Incidental Mutation 'R3115:Vmn2r71'
| ID |
263975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r71
|
| Ensembl Gene |
ENSMUSG00000091205 |
| Gene Name |
vomeronasal 2, receptor 71 |
| Synonyms |
EG233445 |
| MMRRC Submission |
040588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85264670-85273755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 85272866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 560
(D560A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172338]
|
| AlphaFold |
L7N2D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172338
AA Change: D560A
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132337
Gene: ENSMUSG00000091205
AA Change: D560A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
468 |
2.1e-31 |
PFAM |
|
Pfam:NCD3G
|
511 |
563 |
8.7e-20 |
PFAM |
|
Pfam:7tm_3
|
593 |
831 |
2e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208273
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,266,653 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
T |
C |
6: 142,634,755 (GRCm39) |
T170A |
probably benign |
Het |
| Agbl2 |
T |
C |
2: 90,636,245 (GRCm39) |
S594P |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cacng7 |
T |
C |
7: 3,387,450 (GRCm39) |
V111A |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,757,705 (GRCm39) |
T38A |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Dcx |
A |
G |
X: 142,706,105 (GRCm39) |
Y229H |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Glul |
T |
C |
1: 153,783,038 (GRCm39) |
F204L |
possibly damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,855,901 (GRCm39) |
Y43F |
possibly damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,118 (GRCm39) |
L440P |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,383,070 (GRCm39) |
D1466G |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,049,942 (GRCm39) |
S257P |
probably damaging |
Het |
| Knl1 |
C |
A |
2: 118,900,872 (GRCm39) |
L858M |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,006,294 (GRCm39) |
R1277Q |
probably benign |
Het |
| Mgp |
A |
C |
6: 136,849,683 (GRCm39) |
Y92D |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,835,208 (GRCm39) |
H521R |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,656,229 (GRCm39) |
|
probably null |
Het |
| Mybph |
A |
G |
1: 134,122,476 (GRCm39) |
I174V |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,661,959 (GRCm39) |
T347M |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,504 (GRCm38) |
|
probably null |
Het |
| Or10g3 |
T |
C |
14: 52,610,397 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
| Prdx4 |
C |
T |
X: 154,113,407 (GRCm39) |
R167Q |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
| Prph |
T |
A |
15: 98,953,337 (GRCm39) |
F84I |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb13 |
A |
T |
1: 106,910,568 (GRCm39) |
E64V |
probably null |
Het |
| Slc12a4 |
A |
T |
8: 106,686,091 (GRCm39) |
S81T |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,258,506 (GRCm39) |
L179P |
possibly damaging |
Het |
| Sp140l2 |
C |
G |
1: 85,235,106 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
C |
1: 28,815,410 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sycp2l |
C |
A |
13: 41,302,274 (GRCm39) |
T456K |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,914,193 (GRCm39) |
L2447P |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,506,900 (GRCm39) |
C614R |
probably damaging |
Het |
| Usp5 |
T |
C |
6: 124,792,560 (GRCm39) |
Y826C |
probably damaging |
Het |
| Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
| Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
| Zfp81 |
C |
T |
17: 33,553,537 (GRCm39) |
A426T |
possibly damaging |
Het |
| Zscan22 |
T |
C |
7: 12,641,217 (GRCm39) |
I328T |
probably benign |
Het |
|
| Other mutations in Vmn2r71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Vmn2r71
|
APN |
7 |
85,267,901 (GRCm39) |
missense |
probably benign |
|
|
IGL00960:Vmn2r71
|
APN |
7 |
85,273,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01372:Vmn2r71
|
APN |
7 |
85,270,022 (GRCm39) |
splice site |
probably benign |
|
|
IGL01690:Vmn2r71
|
APN |
7 |
85,264,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01909:Vmn2r71
|
APN |
7 |
85,270,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01950:Vmn2r71
|
APN |
7 |
85,264,827 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02570:Vmn2r71
|
APN |
7 |
85,264,748 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02650:Vmn2r71
|
APN |
7 |
85,273,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Vmn2r71
|
APN |
7 |
85,268,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03128:Vmn2r71
|
APN |
7 |
85,268,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Vmn2r71
|
APN |
7 |
85,273,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Vmn2r71
|
UTSW |
7 |
85,268,426 (GRCm39) |
frame shift |
probably null |
|
|
R0707:Vmn2r71
|
UTSW |
7 |
85,268,640 (GRCm39) |
missense |
probably benign |
|
|
R0841:Vmn2r71
|
UTSW |
7 |
85,267,749 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0865:Vmn2r71
|
UTSW |
7 |
85,268,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0883:Vmn2r71
|
UTSW |
7 |
85,272,842 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0939:Vmn2r71
|
UTSW |
7 |
85,272,889 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1597:Vmn2r71
|
UTSW |
7 |
85,273,352 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1646:Vmn2r71
|
UTSW |
7 |
85,270,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Vmn2r71
|
UTSW |
7 |
85,270,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Vmn2r71
|
UTSW |
7 |
85,264,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Vmn2r71
|
UTSW |
7 |
85,269,845 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2014:Vmn2r71
|
UTSW |
7 |
85,269,845 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2015:Vmn2r71
|
UTSW |
7 |
85,269,845 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2050:Vmn2r71
|
UTSW |
7 |
85,273,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2084:Vmn2r71
|
UTSW |
7 |
85,267,945 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2221:Vmn2r71
|
UTSW |
7 |
85,273,301 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2223:Vmn2r71
|
UTSW |
7 |
85,273,301 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2245:Vmn2r71
|
UTSW |
7 |
85,273,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Vmn2r71
|
UTSW |
7 |
85,264,828 (GRCm39) |
nonsense |
probably null |
|
|
R3609:Vmn2r71
|
UTSW |
7 |
85,268,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Vmn2r71
|
UTSW |
7 |
85,270,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4305:Vmn2r71
|
UTSW |
7 |
85,273,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4306:Vmn2r71
|
UTSW |
7 |
85,273,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Vmn2r71
|
UTSW |
7 |
85,269,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4569:Vmn2r71
|
UTSW |
7 |
85,273,402 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4622:Vmn2r71
|
UTSW |
7 |
85,269,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4915:Vmn2r71
|
UTSW |
7 |
85,270,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4956:Vmn2r71
|
UTSW |
7 |
85,268,436 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5005:Vmn2r71
|
UTSW |
7 |
85,273,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Vmn2r71
|
UTSW |
7 |
85,273,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5153:Vmn2r71
|
UTSW |
7 |
85,268,430 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5236:Vmn2r71
|
UTSW |
7 |
85,272,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Vmn2r71
|
UTSW |
7 |
85,267,750 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5405:Vmn2r71
|
UTSW |
7 |
85,268,622 (GRCm39) |
missense |
probably benign |
|
|
R5831:Vmn2r71
|
UTSW |
7 |
85,272,922 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6061:Vmn2r71
|
UTSW |
7 |
85,268,482 (GRCm39) |
missense |
probably benign |
|
|
R6518:Vmn2r71
|
UTSW |
7 |
85,270,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Vmn2r71
|
UTSW |
7 |
85,269,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6920:Vmn2r71
|
UTSW |
7 |
85,273,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Vmn2r71
|
UTSW |
7 |
85,273,468 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7453:Vmn2r71
|
UTSW |
7 |
85,273,297 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7560:Vmn2r71
|
UTSW |
7 |
85,273,115 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7871:Vmn2r71
|
UTSW |
7 |
85,272,869 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8267:Vmn2r71
|
UTSW |
7 |
85,264,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8377:Vmn2r71
|
UTSW |
7 |
85,264,707 (GRCm39) |
missense |
probably benign |
|
|
R9278:Vmn2r71
|
UTSW |
7 |
85,269,788 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9319:Vmn2r71
|
UTSW |
7 |
85,273,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Vmn2r71
|
UTSW |
7 |
85,267,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9368:Vmn2r71
|
UTSW |
7 |
85,273,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Vmn2r71
|
UTSW |
7 |
85,268,388 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9756:Vmn2r71
|
UTSW |
7 |
85,268,573 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Vmn2r71
|
UTSW |
7 |
85,267,873 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Vmn2r71
|
UTSW |
7 |
85,273,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGAATGGTCAAGATAAGATATGCG -3'
(R):5'- CAGGTGACCATAGTGGGATG -3'
Sequencing Primer
(F):5'- CAAAAGCATTCATGAAGATGATAAGC -3'
(R):5'- CAAAGCTAAGAGTTTGGTTATTGGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation