Incidental Mutation 'R5574:Cr2'
| ID |
437082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr2
|
| Ensembl Gene |
ENSMUSG00000026616 |
| Gene Name |
complement receptor 2 |
| Synonyms |
C3DR, CD21, Cr-1, Cr1, CD35, Cr-2 |
| MMRRC Submission |
043129-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
195136811-195176716 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 195141236 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 721
(E721V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082321
AA Change: E1018V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: E1018V
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
1.01e-11 |
SMART |
|
CCP
|
91 |
147 |
9.1e-14 |
SMART |
|
CCP
|
155 |
211 |
1.9e-16 |
SMART |
|
CCP
|
216 |
272 |
1.6e-9 |
SMART |
|
CCP
|
277 |
343 |
1.01e-11 |
SMART |
|
CCP
|
352 |
407 |
1.2e-13 |
SMART |
|
CCP
|
411 |
467 |
2.34e-16 |
SMART |
|
CCP
|
472 |
523 |
1.24e0 |
SMART |
|
CCP
|
528 |
594 |
4.48e-13 |
SMART |
|
CCP
|
603 |
658 |
1.95e-13 |
SMART |
|
CCP
|
718 |
778 |
1.75e-15 |
SMART |
|
CCP
|
787 |
842 |
2.06e-12 |
SMART |
|
CCP
|
850 |
906 |
7.92e-14 |
SMART |
|
CCP
|
911 |
967 |
1.29e-13 |
SMART |
|
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192604
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193356
AA Change: E721V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: E721V
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
1 |
46 |
1.2e-1 |
SMART |
|
CCP
|
55 |
110 |
5.9e-16 |
SMART |
|
CCP
|
114 |
170 |
1.1e-18 |
SMART |
|
CCP
|
175 |
226 |
6.1e-3 |
SMART |
|
CCP
|
231 |
297 |
2.2e-15 |
SMART |
|
CCP
|
306 |
361 |
9.4e-16 |
SMART |
|
CCP
|
421 |
481 |
8.3e-18 |
SMART |
|
CCP
|
490 |
545 |
1e-14 |
SMART |
|
CCP
|
553 |
609 |
4e-16 |
SMART |
|
CCP
|
614 |
670 |
6.2e-16 |
SMART |
|
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193436
AA Change: R54S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193801
|
| SMART Domains |
Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195120
AA Change: R1019S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: R1019S
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
4.9e-14 |
SMART |
|
CCP
|
91 |
147 |
4.5e-16 |
SMART |
|
CCP
|
155 |
211 |
9.1e-19 |
SMART |
|
CCP
|
216 |
272 |
8e-12 |
SMART |
|
CCP
|
277 |
343 |
5e-14 |
SMART |
|
CCP
|
352 |
407 |
5.9e-16 |
SMART |
|
CCP
|
411 |
467 |
1.1e-18 |
SMART |
|
CCP
|
472 |
523 |
6.1e-3 |
SMART |
|
CCP
|
528 |
594 |
2.2e-15 |
SMART |
|
CCP
|
603 |
658 |
9.4e-16 |
SMART |
|
CCP
|
718 |
778 |
8.3e-18 |
SMART |
|
CCP
|
787 |
842 |
1e-14 |
SMART |
|
CCP
|
850 |
906 |
4e-16 |
SMART |
|
CCP
|
911 |
967 |
6.2e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195737
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210219
AA Change: E1394V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.3489 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,142,756 (GRCm38) |
N31I |
possibly damaging |
Het |
| 3110002H16Rik |
CTGTGTGTT |
CTGTGTGTTGTGTGTT |
18: 12,185,006 (GRCm38) |
|
probably null |
Het |
| Acvr1b |
T |
A |
15: 101,202,077 (GRCm38) |
M304K |
probably benign |
Het |
| Adamts1 |
G |
T |
16: 85,799,642 (GRCm38) |
D106E |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,499,773 (GRCm38) |
C696F |
probably damaging |
Het |
| Bnip3l-ps |
T |
A |
12: 18,217,118 (GRCm38) |
|
noncoding transcript |
Het |
| C87499 |
T |
G |
4: 88,628,043 (GRCm38) |
E354A |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,693,753 (GRCm38) |
N895I |
probably damaging |
Het |
| Cdhr4 |
A |
T |
9: 107,993,328 (GRCm38) |
|
probably benign |
Het |
| Cfap97 |
T |
C |
8: 46,170,142 (GRCm38) |
S190P |
probably damaging |
Het |
| Chrnb1 |
A |
C |
11: 69,793,683 (GRCm38) |
|
probably benign |
Het |
| Clns1a |
A |
G |
7: 97,720,958 (GRCm38) |
|
probably benign |
Het |
| Col8a2 |
G |
A |
4: 126,311,268 (GRCm38) |
|
probably benign |
Het |
| Csk |
A |
G |
9: 57,629,301 (GRCm38) |
V172A |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,820,740 (GRCm38) |
V466M |
possibly damaging |
Het |
| Cyp4f13 |
A |
G |
17: 32,929,205 (GRCm38) |
Y349H |
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,329,821 (GRCm38) |
Y205C |
probably damaging |
Het |
| Dync1i2 |
A |
T |
2: 71,233,650 (GRCm38) |
T113S |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,716,155 (GRCm38) |
E186G |
probably damaging |
Het |
| Eya2 |
G |
A |
2: 165,763,816 (GRCm38) |
R380H |
probably damaging |
Het |
| Fam214a |
A |
T |
9: 75,010,390 (GRCm38) |
D757V |
probably damaging |
Het |
| Fam60a |
C |
T |
6: 148,944,880 (GRCm38) |
|
probably benign |
Het |
| Gldn |
A |
G |
9: 54,312,922 (GRCm38) |
T132A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 111,100,606 (GRCm38) |
I74K |
unknown |
Het |
| Gm3898 |
C |
T |
9: 43,830,042 (GRCm38) |
|
noncoding transcript |
Het |
| Ighmbp2 |
C |
T |
19: 3,271,536 (GRCm38) |
V408I |
probably benign |
Het |
| Klhdc10 |
C |
T |
6: 30,439,865 (GRCm38) |
L127F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,769,386 (GRCm38) |
T189M |
possibly damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,570,357 (GRCm38) |
I306F |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,787,016 (GRCm38) |
V2000E |
probably damaging |
Het |
| Mettl9 |
A |
T |
7: 121,047,870 (GRCm38) |
E66D |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,433,931 (GRCm38) |
V877D |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,142,767 (GRCm38) |
V3760M |
possibly damaging |
Het |
| Nos3 |
A |
G |
5: 24,368,861 (GRCm38) |
T208A |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,408,945 (GRCm38) |
D284N |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,700,830 (GRCm38) |
T70S |
possibly damaging |
Het |
| Olfr1040 |
T |
C |
2: 86,146,191 (GRCm38) |
D181G |
probably damaging |
Het |
| Olfr1100 |
A |
G |
2: 86,978,523 (GRCm38) |
V91A |
probably benign |
Het |
| Olfr1245 |
C |
T |
2: 89,574,977 (GRCm38) |
V250I |
possibly damaging |
Het |
| Olfr145 |
A |
T |
9: 37,897,581 (GRCm38) |
Y59F |
probably damaging |
Het |
| Olfr69 |
T |
G |
7: 103,768,116 (GRCm38) |
I94L |
possibly damaging |
Het |
| Pate2 |
A |
G |
9: 35,686,115 (GRCm38) |
|
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 58,973,947 (GRCm38) |
F447L |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,920,493 (GRCm38) |
C211R |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,329,947 (GRCm38) |
S929G |
probably benign |
Het |
| Prc1 |
G |
A |
7: 80,294,542 (GRCm38) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,140,058 (GRCm38) |
D574G |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 72,034,120 (GRCm38) |
|
probably null |
Het |
| Rock2 |
T |
C |
12: 16,961,641 (GRCm38) |
M690T |
possibly damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,261,405 (GRCm38) |
I25V |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 105,364,691 (GRCm38) |
I701K |
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,222,133 (GRCm38) |
N765Y |
probably damaging |
Het |
| Ssh2 |
A |
T |
11: 77,450,115 (GRCm38) |
I698L |
probably benign |
Het |
| Stam |
A |
G |
2: 14,115,864 (GRCm38) |
D58G |
probably damaging |
Het |
| Thsd4 |
C |
A |
9: 59,972,400 (GRCm38) |
R1018L |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,711,024 (GRCm38) |
T2911A |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,813,030 (GRCm38) |
F1329L |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,984,248 (GRCm38) |
E126G |
possibly damaging |
Het |
| Tubgcp5 |
G |
A |
7: 55,805,329 (GRCm38) |
V258M |
probably benign |
Het |
| Unc45a |
G |
A |
7: 80,334,856 (GRCm38) |
A232V |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,666,409 (GRCm38) |
V675M |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 85,151,891 (GRCm38) |
H279L |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 86,166,302 (GRCm38) |
A118E |
probably benign |
Het |
| Wdr36 |
A |
T |
18: 32,865,959 (GRCm38) |
Q886L |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,719,291 (GRCm38) |
Y27* |
probably null |
Het |
| Zfp715 |
A |
T |
7: 43,311,039 (GRCm38) |
S43T |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,239,924 (GRCm38) |
S2297P |
possibly damaging |
Het |
|
| Other mutations in Cr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cr2
|
APN |
1 |
195,154,251 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL01326:Cr2
|
APN |
1 |
195,141,221 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL01358:Cr2
|
APN |
1 |
195,159,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01410:Cr2
|
APN |
1 |
195,163,234 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01468:Cr2
|
APN |
1 |
195,168,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01608:Cr2
|
APN |
1 |
195,155,220 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01810:Cr2
|
APN |
1 |
195,159,595 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01843:Cr2
|
APN |
1 |
195,150,914 (GRCm38) |
splice site |
probably benign |
|
|
IGL02332:Cr2
|
APN |
1 |
195,160,322 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02934:Cr2
|
APN |
1 |
195,154,325 (GRCm38) |
splice site |
probably benign |
|
|
IGL02938:Cr2
|
APN |
1 |
195,166,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Cr2
|
APN |
1 |
195,166,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03327:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03346:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Pillar
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
PIT4354001:Cr2
|
UTSW |
1 |
195,166,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Cr2
|
UTSW |
1 |
195,157,452 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0128:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0130:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0380:Cr2
|
UTSW |
1 |
195,157,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0538:Cr2
|
UTSW |
1 |
195,160,359 (GRCm38) |
splice site |
probably benign |
|
|
R0605:Cr2
|
UTSW |
1 |
195,163,596 (GRCm38) |
splice site |
probably benign |
|
|
R0626:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1135:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Cr2
|
UTSW |
1 |
195,169,253 (GRCm38) |
splice site |
probably null |
|
|
R1422:Cr2
|
UTSW |
1 |
195,171,125 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1511:Cr2
|
UTSW |
1 |
195,155,272 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1572:Cr2
|
UTSW |
1 |
195,163,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1714:Cr2
|
UTSW |
1 |
195,151,686 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1748:Cr2
|
UTSW |
1 |
195,155,905 (GRCm38) |
nonsense |
probably null |
|
|
R1761:Cr2
|
UTSW |
1 |
195,155,123 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1824:Cr2
|
UTSW |
1 |
195,157,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1893:Cr2
|
UTSW |
1 |
195,155,187 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1990:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1991:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1992:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2191:Cr2
|
UTSW |
1 |
195,163,381 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2276:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2277:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3548:Cr2
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
R3743:Cr2
|
UTSW |
1 |
195,149,966 (GRCm38) |
splice site |
probably benign |
|
|
R3941:Cr2
|
UTSW |
1 |
195,165,814 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3963:Cr2
|
UTSW |
1 |
195,159,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4211:Cr2
|
UTSW |
1 |
195,156,328 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4484:Cr2
|
UTSW |
1 |
195,154,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4546:Cr2
|
UTSW |
1 |
195,171,041 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4791:Cr2
|
UTSW |
1 |
195,155,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4802:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4874:Cr2
|
UTSW |
1 |
195,176,570 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4885:Cr2
|
UTSW |
1 |
195,158,731 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4889:Cr2
|
UTSW |
1 |
195,176,585 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5154:Cr2
|
UTSW |
1 |
195,159,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5594:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Cr2
|
UTSW |
1 |
195,154,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5700:Cr2
|
UTSW |
1 |
195,159,757 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5929:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6237:Cr2
|
UTSW |
1 |
195,157,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6299:Cr2
|
UTSW |
1 |
195,168,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6368:Cr2
|
UTSW |
1 |
195,168,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6406:Cr2
|
UTSW |
1 |
195,169,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6618:Cr2
|
UTSW |
1 |
195,157,379 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6684:Cr2
|
UTSW |
1 |
195,171,021 (GRCm38) |
nonsense |
probably null |
|
|
R6720:Cr2
|
UTSW |
1 |
195,155,200 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6866:Cr2
|
UTSW |
1 |
195,151,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6915:Cr2
|
UTSW |
1 |
195,171,146 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7057:Cr2
|
UTSW |
1 |
195,151,610 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7117:Cr2
|
UTSW |
1 |
195,160,601 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7200:Cr2
|
UTSW |
1 |
195,163,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7209:Cr2
|
UTSW |
1 |
195,168,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Cr2
|
UTSW |
1 |
195,155,286 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7414:Cr2
|
UTSW |
1 |
195,150,036 (GRCm38) |
missense |
probably benign |
|
|
R7453:Cr2
|
UTSW |
1 |
195,165,257 (GRCm38) |
splice site |
probably null |
|
|
R7479:Cr2
|
UTSW |
1 |
195,158,410 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7480:Cr2
|
UTSW |
1 |
195,154,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7570:Cr2
|
UTSW |
1 |
195,169,340 (GRCm38) |
nonsense |
probably null |
|
|
R7666:Cr2
|
UTSW |
1 |
195,154,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7921:Cr2
|
UTSW |
1 |
195,151,667 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7923:Cr2
|
UTSW |
1 |
195,168,687 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8396:Cr2
|
UTSW |
1 |
195,158,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8503:Cr2
|
UTSW |
1 |
195,163,542 (GRCm38) |
missense |
probably benign |
|
|
R8517:Cr2
|
UTSW |
1 |
195,155,899 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8773:Cr2
|
UTSW |
1 |
195,158,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8849:Cr2
|
UTSW |
1 |
195,157,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8896:Cr2
|
UTSW |
1 |
195,169,273 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8938:Cr2
|
UTSW |
1 |
195,171,116 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9027:Cr2
|
UTSW |
1 |
195,151,721 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9045:Cr2
|
UTSW |
1 |
195,155,372 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9116:Cr2
|
UTSW |
1 |
195,158,669 (GRCm38) |
nonsense |
probably null |
|
|
R9137:Cr2
|
UTSW |
1 |
195,168,332 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9476:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9497:Cr2
|
UTSW |
1 |
195,168,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9510:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9752:Cr2
|
UTSW |
1 |
195,141,267 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9799:Cr2
|
UTSW |
1 |
195,160,680 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0028:Cr2
|
UTSW |
1 |
195,149,982 (GRCm38) |
missense |
probably benign |
0.09 |
|
X0066:Cr2
|
UTSW |
1 |
195,166,321 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Cr2
|
UTSW |
1 |
195,154,153 (GRCm38) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTTGGAATATGAAGTAGGTAAGCT -3'
(R):5'- AAAATTGGGGCCTATGCTGTTTAA -3'
Sequencing Primer
(F):5'- TTTCCTTAAGGCCATGATTT -3'
(R):5'- CTGACAGCTAATGAATCCTTAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation