Incidental Mutation 'R4771:Crb1'
| ID |
367458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crb1
|
| Ensembl Gene |
ENSMUSG00000063681 |
| Gene Name |
crumbs family member 1, photoreceptor morphogenesis associated |
| Synonyms |
A930008G09Rik, 7530426H14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4771 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
139124794-139304838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139255942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 264
(E264D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059825]
[ENSMUST00000196402]
[ENSMUST00000198445]
[ENSMUST00000200340]
|
| AlphaFold |
Q8VHS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059825
AA Change: E264D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681
AA Change: E264D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
EGF
|
72 |
107 |
5.97e-4 |
SMART |
|
EGF
|
112 |
145 |
9.19e-5 |
SMART |
|
EGF_CA
|
147 |
183 |
2.89e-11 |
SMART |
|
EGF_CA
|
185 |
221 |
1.14e-9 |
SMART |
|
EGF_CA
|
223 |
259 |
2.26e-13 |
SMART |
|
EGF_CA
|
261 |
298 |
5.15e-8 |
SMART |
|
EGF
|
303 |
336 |
8.12e-6 |
SMART |
|
EGF
|
341 |
394 |
2.6e-4 |
SMART |
|
EGF_CA
|
396 |
438 |
2.54e-7 |
SMART |
|
EGF
|
443 |
480 |
1.47e-3 |
SMART |
|
LamG
|
505 |
650 |
1.75e-9 |
SMART |
|
EGF
|
674 |
707 |
6.5e-5 |
SMART |
|
LamG
|
734 |
859 |
1.05e-7 |
SMART |
|
EGF
|
889 |
922 |
1.19e-3 |
SMART |
|
LamG
|
971 |
1104 |
6.85e-12 |
SMART |
|
EGF
|
1141 |
1174 |
7.07e-6 |
SMART |
|
EGF_CA
|
1176 |
1211 |
3.01e-9 |
SMART |
|
EGF
|
1216 |
1249 |
3.57e-2 |
SMART |
|
EGF
|
1257 |
1294 |
6.92e0 |
SMART |
|
EGF_CA
|
1296 |
1332 |
4.19e-8 |
SMART |
|
transmembrane domain
|
1346 |
1368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196402
AA Change: E264D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142702
Gene: ENSMUSG00000063681
AA Change: E264D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
EGF
|
72 |
107 |
5.97e-4 |
SMART |
|
EGF
|
112 |
145 |
9.19e-5 |
SMART |
|
EGF_CA
|
147 |
183 |
2.89e-11 |
SMART |
|
EGF_CA
|
185 |
221 |
1.14e-9 |
SMART |
|
EGF_CA
|
223 |
259 |
2.26e-13 |
SMART |
|
EGF_CA
|
261 |
298 |
5.15e-8 |
SMART |
|
EGF
|
303 |
336 |
8.12e-6 |
SMART |
|
EGF
|
341 |
394 |
2.6e-4 |
SMART |
|
EGF_CA
|
396 |
438 |
2.54e-7 |
SMART |
|
EGF
|
443 |
480 |
1.47e-3 |
SMART |
|
LamG
|
505 |
650 |
1.75e-9 |
SMART |
|
EGF
|
674 |
707 |
6.5e-5 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197035
AA Change: E21D
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198445
AA Change: E264D
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681
AA Change: E264D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
EGF
|
72 |
107 |
5.97e-4 |
SMART |
|
EGF
|
112 |
145 |
9.19e-5 |
SMART |
|
EGF_CA
|
147 |
183 |
2.89e-11 |
SMART |
|
EGF_CA
|
185 |
221 |
1.14e-9 |
SMART |
|
EGF_CA
|
223 |
259 |
2.26e-13 |
SMART |
|
EGF_CA
|
261 |
298 |
5.15e-8 |
SMART |
|
EGF
|
303 |
333 |
1.63e1 |
SMART |
|
EGF_CA
|
335 |
377 |
2.54e-7 |
SMART |
|
EGF
|
382 |
419 |
1.47e-3 |
SMART |
|
LamG
|
444 |
589 |
1.75e-9 |
SMART |
|
EGF
|
613 |
646 |
6.5e-5 |
SMART |
|
LamG
|
673 |
798 |
1.05e-7 |
SMART |
|
EGF
|
828 |
861 |
1.19e-3 |
SMART |
|
LamG
|
910 |
1043 |
6.85e-12 |
SMART |
|
EGF
|
1080 |
1113 |
7.07e-6 |
SMART |
|
EGF_CA
|
1115 |
1150 |
3.01e-9 |
SMART |
|
EGF
|
1155 |
1188 |
3.57e-2 |
SMART |
|
EGF
|
1196 |
1233 |
6.92e0 |
SMART |
|
EGF_CA
|
1235 |
1271 |
4.19e-8 |
SMART |
|
low complexity region
|
1282 |
1296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200340
AA Change: E15D
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142909
Gene: ENSMUSG00000063681
AA Change: E15D
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_CA
|
12 |
49 |
5.15e-8 |
SMART |
|
EGF
|
54 |
88 |
1.47e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygotes for a null allele show focal retinal lesions, loss of adherens junctions between photoreceptors and Muller glia cells, and light-accelerated retinal degeneration. Homozygotes for a spontaneous allele show background-sensitive retinal spotting, photoreceptor dysplasia and degeneration. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(4) Spontaneous(1)
|
| Other mutations in this stock |
Total: 111 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,366,300 (GRCm39) |
T148A |
probably benign |
Het |
| Abcc4 |
G |
T |
14: 118,721,796 (GRCm39) |
N1234K |
probably benign |
Het |
| Adamts20 |
C |
T |
15: 94,249,516 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
C |
T |
9: 71,030,152 (GRCm39) |
G212S |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,570,621 (GRCm39) |
N533I |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,804,518 (GRCm39) |
V1884A |
probably benign |
Het |
| Ccdc106 |
G |
A |
7: 5,060,521 (GRCm39) |
|
probably null |
Het |
| Cfap46 |
A |
T |
7: 139,210,524 (GRCm39) |
L1774Q |
probably null |
Het |
| Cfap95 |
A |
G |
19: 23,536,337 (GRCm39) |
L190P |
probably damaging |
Het |
| Cibar1 |
T |
A |
4: 12,155,689 (GRCm39) |
Q311L |
probably benign |
Het |
| Clec2h |
G |
A |
6: 128,651,118 (GRCm39) |
E133K |
probably damaging |
Het |
| Cntn1 |
T |
A |
15: 92,202,972 (GRCm39) |
F751L |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,630,917 (GRCm39) |
M62L |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,800,993 (GRCm39) |
V1899A |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,612,684 (GRCm39) |
L28* |
probably null |
Het |
| Creb3l2 |
A |
T |
6: 37,311,512 (GRCm39) |
S426T |
probably benign |
Het |
| Cspg5 |
T |
A |
9: 110,080,195 (GRCm39) |
N373K |
probably damaging |
Het |
| Ctso |
T |
C |
3: 81,840,047 (GRCm39) |
S26P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,519,434 (GRCm39) |
D348A |
probably benign |
Het |
| Diaph1 |
A |
T |
18: 37,986,604 (GRCm39) |
M1127K |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,900,375 (GRCm39) |
K397* |
probably null |
Het |
| Dock3 |
T |
A |
9: 106,829,557 (GRCm39) |
H1119L |
possibly damaging |
Het |
| Dok4 |
G |
T |
8: 95,591,795 (GRCm39) |
|
probably null |
Het |
| Dram2 |
A |
G |
3: 106,480,361 (GRCm39) |
T225A |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,288,565 (GRCm39) |
R5603H |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,775,996 (GRCm39) |
F18S |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,298,278 (GRCm39) |
V427A |
probably damaging |
Het |
| Exoc4 |
A |
T |
6: 33,418,884 (GRCm39) |
|
probably null |
Het |
| Exph5 |
C |
T |
9: 53,284,965 (GRCm39) |
T682I |
possibly damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,351,752 (GRCm39) |
S264T |
possibly damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,725,314 (GRCm39) |
D580E |
probably benign |
Het |
| Gm10277 |
G |
A |
11: 77,676,534 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
A |
2: 121,756,126 (GRCm39) |
V352E |
probably damaging |
Het |
| Gtf2a1l |
C |
A |
17: 88,997,448 (GRCm39) |
P93Q |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,259,515 (GRCm39) |
I2496F |
probably benign |
Het |
| Ighv7-2 |
A |
C |
12: 113,876,087 (GRCm39) |
I6S |
probably benign |
Het |
| Irs1 |
A |
G |
1: 82,265,696 (GRCm39) |
V840A |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,927,405 (GRCm39) |
E965G |
probably damaging |
Het |
| Izumo1 |
T |
G |
7: 45,272,233 (GRCm39) |
F5V |
probably benign |
Het |
| Izumo1 |
T |
A |
7: 45,272,234 (GRCm39) |
F5Y |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,978,687 (GRCm39) |
S175P |
probably damaging |
Het |
| Klf14 |
A |
G |
6: 30,934,960 (GRCm39) |
F225L |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,853,773 (GRCm39) |
Y468H |
probably damaging |
Het |
| Krt5 |
T |
A |
15: 101,617,494 (GRCm39) |
Q413L |
probably damaging |
Het |
| Lbr |
T |
C |
1: 181,665,986 (GRCm39) |
Y41C |
probably damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,292,834 (GRCm39) |
N229Y |
probably damaging |
Het |
| Marchf3 |
T |
A |
18: 56,916,170 (GRCm39) |
H175L |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,300,124 (GRCm39) |
|
probably null |
Het |
| Med27 |
T |
A |
2: 29,303,515 (GRCm39) |
L16Q |
probably damaging |
Het |
| Mex3b |
A |
T |
7: 82,518,273 (GRCm39) |
Q196L |
possibly damaging |
Het |
| Mga |
T |
C |
2: 119,794,775 (GRCm39) |
S2820P |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,179,087 (GRCm39) |
L1104F |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,063,103 (GRCm39) |
E166G |
probably damaging |
Het |
| Mthfd2l |
A |
G |
5: 91,096,727 (GRCm39) |
E116G |
possibly damaging |
Het |
| Musk |
A |
G |
4: 58,301,706 (GRCm39) |
I155V |
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,468,314 (GRCm39) |
W834* |
probably null |
Het |
| Myo18b |
T |
A |
5: 112,840,093 (GRCm39) |
R2567* |
probably null |
Het |
| Nars2 |
A |
T |
7: 96,684,452 (GRCm39) |
E325V |
probably damaging |
Het |
| Nploc4 |
A |
G |
11: 120,312,260 (GRCm39) |
V106A |
possibly damaging |
Het |
| Nudcd1 |
A |
T |
15: 44,268,878 (GRCm39) |
S167R |
probably damaging |
Het |
| Nup133 |
T |
A |
8: 124,656,137 (GRCm39) |
D448V |
probably damaging |
Het |
| Or5al1 |
G |
T |
2: 85,990,417 (GRCm39) |
T99N |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,995,229 (GRCm39) |
K301* |
probably null |
Het |
| Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
| Pcdh8 |
C |
T |
14: 80,005,710 (GRCm39) |
A893T |
possibly damaging |
Het |
| Per3 |
A |
T |
4: 151,093,716 (GRCm39) |
V1033E |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,282 (GRCm39) |
S44P |
probably damaging |
Het |
| Pou4f2 |
T |
A |
8: 79,161,865 (GRCm39) |
H246L |
possibly damaging |
Het |
| Psmd2 |
G |
A |
16: 20,481,429 (GRCm39) |
R828Q |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,524,288 (GRCm39) |
S482P |
probably benign |
Het |
| Rbm14 |
G |
T |
19: 4,852,671 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,254,698 (GRCm39) |
D557G |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,499 (GRCm39) |
I242T |
probably benign |
Het |
| Runx1 |
C |
A |
16: 92,492,629 (GRCm39) |
V5L |
possibly damaging |
Het |
| Shld2 |
G |
A |
14: 33,990,663 (GRCm39) |
T81M |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,100,339 (GRCm39) |
Y381* |
probably null |
Het |
| Smyd3 |
A |
T |
1: 178,921,961 (GRCm39) |
C180S |
probably damaging |
Het |
| Sntg2 |
T |
A |
12: 30,326,658 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,934 (GRCm39) |
V678I |
probably damaging |
Het |
| Spag5 |
G |
A |
11: 78,195,592 (GRCm39) |
A300T |
probably damaging |
Het |
| Spdl1 |
T |
A |
11: 34,704,154 (GRCm39) |
R560W |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,199,907 (GRCm39) |
T2884A |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,895,963 (GRCm39) |
Q1752* |
probably null |
Het |
| Srrm4 |
C |
A |
5: 116,613,234 (GRCm39) |
|
probably null |
Het |
| Ssc4d |
A |
G |
5: 135,999,074 (GRCm39) |
L43P |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,437,813 (GRCm39) |
D1324G |
probably damaging |
Het |
| Tkt |
T |
G |
14: 30,288,982 (GRCm39) |
I238S |
probably damaging |
Het |
| Tmem184b |
A |
T |
15: 79,261,377 (GRCm39) |
N76K |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,790,857 (GRCm39) |
M631V |
probably damaging |
Het |
| Ttll6 |
A |
C |
11: 96,024,655 (GRCm39) |
E15A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,569,296 (GRCm39) |
D27199G |
probably damaging |
Het |
| Ubn2 |
A |
T |
6: 38,464,088 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
A |
C |
15: 38,018,541 (GRCm39) |
I866M |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,550,406 (GRCm39) |
T2149A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,529,966 (GRCm39) |
V3252L |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,219,377 (GRCm39) |
|
probably null |
Het |
| Vill |
T |
A |
9: 118,897,502 (GRCm39) |
M259K |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,217,290 (GRCm39) |
I411T |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,887 (GRCm39) |
W301R |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,910,946 (GRCm39) |
S3570N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,836,821 (GRCm39) |
V1773A |
probably benign |
Het |
| Vtn |
A |
G |
11: 78,392,400 (GRCm39) |
D326G |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,426,511 (GRCm39) |
H592L |
probably damaging |
Het |
| Zdhhc19 |
A |
G |
16: 32,317,953 (GRCm39) |
D94G |
probably damaging |
Het |
| Zfand4 |
A |
T |
6: 116,291,311 (GRCm39) |
E188V |
probably damaging |
Het |
| Zfp523 |
C |
A |
17: 28,420,312 (GRCm39) |
|
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,268,309 (GRCm39) |
D369G |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,372 (GRCm39) |
T72S |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,088,286 (GRCm39) |
V705E |
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,625,733 (GRCm39) |
T46A |
probably damaging |
Het |
| Zkscan4 |
C |
T |
13: 21,663,416 (GRCm39) |
Q52* |
probably null |
Het |
|
| Other mutations in Crb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Crb1
|
APN |
1 |
139,250,983 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01591:Crb1
|
APN |
1 |
139,165,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01644:Crb1
|
APN |
1 |
139,165,368 (GRCm39) |
nonsense |
probably null |
|
|
IGL01769:Crb1
|
APN |
1 |
139,264,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02172:Crb1
|
APN |
1 |
139,164,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02294:Crb1
|
APN |
1 |
139,162,520 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02382:Crb1
|
APN |
1 |
139,165,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02411:Crb1
|
APN |
1 |
139,176,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03070:Crb1
|
APN |
1 |
139,168,996 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02984:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL02988:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL02991:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL02991:Crb1
|
UTSW |
1 |
139,164,822 (GRCm39) |
frame shift |
probably null |
|
|
IGL03014:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03050:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03054:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03055:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03097:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03098:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03134:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03138:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
IGL03147:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
P0017:Crb1
|
UTSW |
1 |
139,176,678 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0276:Crb1
|
UTSW |
1 |
139,251,073 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0325:Crb1
|
UTSW |
1 |
139,168,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Crb1
|
UTSW |
1 |
139,126,529 (GRCm39) |
splice site |
probably benign |
|
|
R0479:Crb1
|
UTSW |
1 |
139,126,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0734:Crb1
|
UTSW |
1 |
139,264,822 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1573:Crb1
|
UTSW |
1 |
139,265,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1728:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1729:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1730:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1762:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1762:Crb1
|
UTSW |
1 |
139,165,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1783:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1784:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Crb1
|
UTSW |
1 |
139,170,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Crb1
|
UTSW |
1 |
139,171,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Crb1
|
UTSW |
1 |
139,162,517 (GRCm39) |
missense |
probably benign |
|
|
R1785:Crb1
|
UTSW |
1 |
139,165,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Crb1
|
UTSW |
1 |
139,168,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Crb1
|
UTSW |
1 |
139,164,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1894:Crb1
|
UTSW |
1 |
139,170,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2057:Crb1
|
UTSW |
1 |
139,242,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Crb1
|
UTSW |
1 |
139,265,163 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2140:Crb1
|
UTSW |
1 |
139,164,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2363:Crb1
|
UTSW |
1 |
139,265,016 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3605:Crb1
|
UTSW |
1 |
139,165,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3817:Crb1
|
UTSW |
1 |
139,175,835 (GRCm39) |
missense |
probably benign |
|
|
R3942:Crb1
|
UTSW |
1 |
139,265,211 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4272:Crb1
|
UTSW |
1 |
139,251,049 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4301:Crb1
|
UTSW |
1 |
139,176,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4403:Crb1
|
UTSW |
1 |
139,176,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4700:Crb1
|
UTSW |
1 |
139,126,509 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4845:Crb1
|
UTSW |
1 |
139,170,772 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4867:Crb1
|
UTSW |
1 |
139,170,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Crb1
|
UTSW |
1 |
139,170,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5270:Crb1
|
UTSW |
1 |
139,164,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5347:Crb1
|
UTSW |
1 |
139,265,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Crb1
|
UTSW |
1 |
139,164,559 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5641:Crb1
|
UTSW |
1 |
139,176,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5754:Crb1
|
UTSW |
1 |
139,159,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5968:Crb1
|
UTSW |
1 |
139,170,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Crb1
|
UTSW |
1 |
139,176,686 (GRCm39) |
nonsense |
probably null |
|
|
R6369:Crb1
|
UTSW |
1 |
139,165,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Crb1
|
UTSW |
1 |
139,170,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7020:Crb1
|
UTSW |
1 |
139,159,341 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7072:Crb1
|
UTSW |
1 |
139,165,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Crb1
|
UTSW |
1 |
139,176,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7135:Crb1
|
UTSW |
1 |
139,171,105 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7493:Crb1
|
UTSW |
1 |
139,164,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Crb1
|
UTSW |
1 |
139,175,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:Crb1
|
UTSW |
1 |
139,265,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Crb1
|
UTSW |
1 |
139,164,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7740:Crb1
|
UTSW |
1 |
139,165,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7912:Crb1
|
UTSW |
1 |
139,170,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Crb1
|
UTSW |
1 |
139,165,122 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8042:Crb1
|
UTSW |
1 |
139,242,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8329:Crb1
|
UTSW |
1 |
139,165,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8332:Crb1
|
UTSW |
1 |
139,165,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8880:Crb1
|
UTSW |
1 |
139,164,886 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8894:Crb1
|
UTSW |
1 |
139,175,750 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9052:Crb1
|
UTSW |
1 |
139,171,161 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9138:Crb1
|
UTSW |
1 |
139,162,468 (GRCm39) |
missense |
|
|
|
R9209:Crb1
|
UTSW |
1 |
139,171,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9567:Crb1
|
UTSW |
1 |
139,171,208 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0066:Crb1
|
UTSW |
1 |
139,175,983 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Crb1
|
UTSW |
1 |
139,264,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Crb1
|
UTSW |
1 |
139,176,639 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Crb1
|
UTSW |
1 |
139,164,824 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTCACTCAGGACAGATGTC -3'
(R):5'- GCTAAAACTTTTCTGGCTTTCTGTG -3'
Sequencing Primer
(F):5'- ACAGTAGACCTTGGTCTC -3'
(R):5'- GTTGGCTTTTCTCATAGGCGTGAAC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation