Incidental Mutation 'R8049:Crb2'
| ID |
618914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crb2
|
| Ensembl Gene |
ENSMUSG00000035403 |
| Gene Name |
crumbs family member 2 |
| Synonyms |
|
| MMRRC Submission |
067486-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8049 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37666261-37689115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37683252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 918
(G918D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050372]
|
| AlphaFold |
Q80YA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050372
AA Change: G918D
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: G918D
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
74 |
110 |
1.92e-7 |
SMART |
|
EGF_CA
|
112 |
148 |
1.69e-12 |
SMART |
|
EGF_CA
|
150 |
186 |
3.99e-14 |
SMART |
|
EGF_CA
|
188 |
225 |
8.9e-12 |
SMART |
|
EGF_CA
|
227 |
263 |
3.79e-6 |
SMART |
|
EGF
|
268 |
322 |
1.32e-5 |
SMART |
|
EGF_CA
|
324 |
360 |
5.96e-13 |
SMART |
|
EGF_CA
|
362 |
398 |
2.54e-7 |
SMART |
|
EGF
|
403 |
440 |
2.45e0 |
SMART |
|
low complexity region
|
446 |
457 |
N/A |
INTRINSIC |
|
LamG
|
461 |
592 |
1.18e-6 |
SMART |
|
EGF
|
612 |
645 |
4.59e-5 |
SMART |
|
LamG
|
671 |
778 |
4.45e-2 |
SMART |
|
EGF
|
813 |
846 |
5.2e-4 |
SMART |
|
LamG
|
893 |
1019 |
1.68e-1 |
SMART |
|
EGF
|
1056 |
1089 |
9.55e-3 |
SMART |
|
EGF
|
1094 |
1127 |
9.85e-5 |
SMART |
|
EGF
|
1134 |
1168 |
1.91e1 |
SMART |
|
EGF
|
1173 |
1206 |
3.73e-5 |
SMART |
|
transmembrane domain
|
1222 |
1244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147600
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous inactivation of this gene causes severe gastrulation defects, impaired somitogenesis and organogenesis. and complete embryonic death by E12.5. Several organ primordia, including neuroepithelium, gut, and heart, fail to form properly. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,992 (GRCm39) |
T69S |
probably benign |
Het |
| 5730455P16Rik |
A |
G |
11: 80,268,798 (GRCm39) |
S4P |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,241,867 (GRCm39) |
N1243K |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,303,943 (GRCm39) |
S824T |
probably benign |
Het |
| Armh4 |
G |
T |
14: 50,010,993 (GRCm39) |
A238E |
probably damaging |
Het |
| C3ar1 |
T |
A |
6: 122,827,059 (GRCm39) |
Y386F |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,087,577 (GRCm39) |
N527S |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,669,085 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,804,631 (GRCm39) |
P2279S |
unknown |
Het |
| Dcn |
C |
A |
10: 97,349,479 (GRCm39) |
N250K |
probably damaging |
Het |
| Dctn5 |
G |
A |
7: 121,732,466 (GRCm39) |
|
probably benign |
Het |
| Ddx55 |
T |
C |
5: 124,694,821 (GRCm39) |
V83A |
probably damaging |
Het |
| Dnaja2 |
T |
A |
8: 86,265,876 (GRCm39) |
H403L |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,303,982 (GRCm39) |
I143V |
probably benign |
Het |
| Efna5 |
G |
T |
17: 62,957,977 (GRCm39) |
T93K |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,843,201 (GRCm39) |
V171A |
possibly damaging |
Het |
| Esyt1 |
C |
G |
10: 128,347,955 (GRCm39) |
V942L |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam78a |
C |
A |
2: 31,973,035 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,202,892 (GRCm39) |
Y61H |
probably benign |
Het |
| Fbxw14 |
A |
T |
9: 109,105,211 (GRCm39) |
M318K |
probably damaging |
Het |
| Gm14295 |
A |
G |
2: 176,500,871 (GRCm39) |
I120M |
probably benign |
Het |
| Gm14403 |
T |
A |
2: 177,200,311 (GRCm39) |
Y86N |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr55 |
T |
C |
1: 85,869,419 (GRCm39) |
D54G |
probably benign |
Het |
| Gtf2b |
T |
G |
3: 142,483,975 (GRCm39) |
S50A |
probably damaging |
Het |
| Ifit3 |
A |
T |
19: 34,565,480 (GRCm39) |
E342V |
possibly damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,011,609 (GRCm39) |
I798N |
probably damaging |
Het |
| Kplce |
A |
T |
3: 92,776,202 (GRCm39) |
Y160* |
probably null |
Het |
| Lpin1 |
T |
C |
12: 16,613,685 (GRCm39) |
D494G |
|
Het |
| Lsm12 |
T |
C |
11: 102,056,235 (GRCm39) |
E149G |
possibly damaging |
Het |
| Mtfr2 |
T |
C |
10: 20,228,603 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,414 (GRCm39) |
M231T |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,800,873 (GRCm39) |
V203E |
probably benign |
Het |
| Or1e27-ps1 |
G |
T |
11: 73,555,988 (GRCm39) |
K184N |
possibly damaging |
Het |
| Or52h2 |
C |
A |
7: 103,839,017 (GRCm39) |
L132F |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,346 (GRCm39) |
T196S |
probably damaging |
Het |
| Or9r7 |
A |
T |
10: 129,962,469 (GRCm39) |
Y152* |
probably null |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pde6b |
C |
T |
5: 108,573,118 (GRCm39) |
P496L |
probably benign |
Het |
| Plppr1 |
A |
T |
4: 49,300,942 (GRCm39) |
M92L |
probably benign |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Ptprk |
C |
G |
10: 28,259,565 (GRCm39) |
S335C |
possibly damaging |
Het |
| Rars2 |
T |
A |
4: 34,650,217 (GRCm39) |
M334K |
probably benign |
Het |
| Rasl10a |
A |
T |
11: 5,009,823 (GRCm39) |
I124F |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,183,374 (GRCm39) |
V1007E |
possibly damaging |
Het |
| Rnf122 |
T |
A |
8: 31,618,608 (GRCm39) |
C119S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,584,149 (GRCm39) |
I1489F |
probably damaging |
Het |
| Setd6 |
C |
A |
8: 96,443,316 (GRCm39) |
S186R |
probably benign |
Het |
| Tex19.1 |
A |
G |
11: 121,038,148 (GRCm39) |
T169A |
probably benign |
Het |
| Th |
G |
A |
7: 142,447,860 (GRCm39) |
P408S |
probably damaging |
Het |
| Trappc13 |
T |
C |
13: 104,281,052 (GRCm39) |
M337V |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,609,762 (GRCm39) |
K65* |
probably null |
Het |
| Ubxn4 |
T |
C |
1: 128,183,933 (GRCm39) |
S98P |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,005,960 (GRCm39) |
S601G |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,946,555 (GRCm39) |
L90H |
probably damaging |
Het |
|
| Other mutations in Crb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Crb2
|
APN |
2 |
37,682,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01357:Crb2
|
APN |
2 |
37,685,523 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01363:Crb2
|
APN |
2 |
37,683,845 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02006:Crb2
|
APN |
2 |
37,676,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Crb2
|
APN |
2 |
37,673,447 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02455:Crb2
|
APN |
2 |
37,684,576 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03107:Crb2
|
APN |
2 |
37,681,428 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1350:Crb2
|
UTSW |
2 |
37,682,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1353:Crb2
|
UTSW |
2 |
37,677,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Crb2
|
UTSW |
2 |
37,673,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Crb2
|
UTSW |
2 |
37,673,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Crb2
|
UTSW |
2 |
37,676,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1734:Crb2
|
UTSW |
2 |
37,683,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Crb2
|
UTSW |
2 |
37,673,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2918:Crb2
|
UTSW |
2 |
37,673,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3431:Crb2
|
UTSW |
2 |
37,682,229 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3975:Crb2
|
UTSW |
2 |
37,683,680 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4074:Crb2
|
UTSW |
2 |
37,676,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Crb2
|
UTSW |
2 |
37,680,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Crb2
|
UTSW |
2 |
37,685,349 (GRCm39) |
unclassified |
probably benign |
|
|
R4801:Crb2
|
UTSW |
2 |
37,683,768 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4802:Crb2
|
UTSW |
2 |
37,683,768 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4913:Crb2
|
UTSW |
2 |
37,680,257 (GRCm39) |
missense |
probably benign |
|
|
R4930:Crb2
|
UTSW |
2 |
37,673,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Crb2
|
UTSW |
2 |
37,685,343 (GRCm39) |
unclassified |
probably benign |
|
|
R4959:Crb2
|
UTSW |
2 |
37,680,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5215:Crb2
|
UTSW |
2 |
37,683,765 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5268:Crb2
|
UTSW |
2 |
37,680,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5446:Crb2
|
UTSW |
2 |
37,685,461 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5739:Crb2
|
UTSW |
2 |
37,683,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5875:Crb2
|
UTSW |
2 |
37,677,266 (GRCm39) |
splice site |
probably null |
|
|
R6179:Crb2
|
UTSW |
2 |
37,680,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Crb2
|
UTSW |
2 |
37,683,838 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6569:Crb2
|
UTSW |
2 |
37,682,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6828:Crb2
|
UTSW |
2 |
37,666,421 (GRCm39) |
small deletion |
probably benign |
|
|
R7040:Crb2
|
UTSW |
2 |
37,677,696 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7153:Crb2
|
UTSW |
2 |
37,677,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7362:Crb2
|
UTSW |
2 |
37,680,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7515:Crb2
|
UTSW |
2 |
37,673,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Crb2
|
UTSW |
2 |
37,683,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Crb2
|
UTSW |
2 |
37,680,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7819:Crb2
|
UTSW |
2 |
37,681,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8016:Crb2
|
UTSW |
2 |
37,676,568 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8090:Crb2
|
UTSW |
2 |
37,685,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8907:Crb2
|
UTSW |
2 |
37,685,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9010:Crb2
|
UTSW |
2 |
37,680,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9291:Crb2
|
UTSW |
2 |
37,682,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9448:Crb2
|
UTSW |
2 |
37,677,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9706:Crb2
|
UTSW |
2 |
37,681,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9714:Crb2
|
UTSW |
2 |
37,681,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0025:Crb2
|
UTSW |
2 |
37,682,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Crb2
|
UTSW |
2 |
37,666,383 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Crb2
|
UTSW |
2 |
37,680,836 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Crb2
|
UTSW |
2 |
37,677,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTGGCAGGTCATTTCC -3'
(R):5'- TGAAGTTCTCAGCCAGTAGC -3'
Sequencing Primer
(F):5'- AGGTCATTTCCCAGCGGCTC -3'
(R):5'- TGCAGAAAGCCCAGGTCG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation