Incidental Mutation 'R6518:Vmn2r71'
| ID |
520885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r71
|
| Ensembl Gene |
ENSMUSG00000091205 |
| Gene Name |
vomeronasal 2, receptor 71 |
| Synonyms |
EG233445 |
| MMRRC Submission |
044645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85264670-85273755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 85270436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 534
(C534F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172338]
|
| AlphaFold |
L7N2D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172338
AA Change: C534F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132337
Gene: ENSMUSG00000091205
AA Change: C534F
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208545
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,123,608 (GRCm39) |
D88G |
probably damaging |
Het |
| Abcc12 |
A |
G |
8: 87,235,718 (GRCm39) |
|
|
Het |
| Angptl6 |
T |
C |
9: 20,786,656 (GRCm39) |
H330R |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,649,397 (GRCm39) |
V462E |
probably damaging |
Het |
| Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,498,534 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
A |
17: 35,083,094 (GRCm39) |
I426F |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,953,179 (GRCm39) |
Y1049N |
probably damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,283 (GRCm39) |
M134K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,663,904 (GRCm39) |
D145G |
possibly damaging |
Het |
| Ckap2 |
A |
T |
8: 22,663,319 (GRCm39) |
I492K |
probably benign |
Het |
| Cog2 |
G |
A |
8: 125,253,842 (GRCm39) |
W67* |
probably null |
Het |
| Col7a1 |
T |
C |
9: 108,784,595 (GRCm39) |
F172L |
unknown |
Het |
| Dcaf1 |
T |
C |
9: 106,712,788 (GRCm39) |
I112T |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,741,081 (GRCm39) |
I518V |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,835,419 (GRCm39) |
L908P |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,479 (GRCm39) |
Y563H |
probably benign |
Het |
| Gm16686 |
A |
C |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
A |
T |
7: 118,743,734 (GRCm39) |
F284I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,428 (GRCm39) |
F553I |
possibly damaging |
Het |
| Igkv6-29 |
T |
A |
6: 70,115,497 (GRCm39) |
Q99L |
probably damaging |
Het |
| Lipt1 |
A |
G |
1: 37,914,856 (GRCm39) |
N304S |
probably benign |
Het |
| Lmo1 |
A |
C |
7: 108,742,783 (GRCm39) |
L39R |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,794,878 (GRCm39) |
|
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,386,940 (GRCm39) |
T74A |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,716,501 (GRCm39) |
L624H |
probably damaging |
Het |
| Or11a4 |
G |
T |
17: 37,536,159 (GRCm39) |
A48S |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,334 (GRCm39) |
V78A |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,728,077 (GRCm39) |
I115V |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,116 (GRCm39) |
Y153H |
probably benign |
Het |
| Pdzrn3 |
A |
T |
6: 101,127,475 (GRCm39) |
*1064K |
probably null |
Het |
| Pias1 |
A |
G |
9: 62,859,142 (GRCm39) |
L113P |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,239,342 (GRCm39) |
I514N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,278 (GRCm39) |
T212A |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,900,691 (GRCm39) |
Y151C |
probably damaging |
Het |
| Samhd1 |
G |
A |
2: 156,956,217 (GRCm39) |
T325M |
possibly damaging |
Het |
| Seh1l |
A |
G |
18: 67,922,519 (GRCm39) |
T291A |
probably damaging |
Het |
| Smim24 |
A |
G |
10: 81,229,695 (GRCm39) |
M1V |
probably null |
Het |
| Sp140 |
TTTTTTTTTTTT |
TTTTTTTTTTTTTTTTT |
1: 85,572,291 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
A |
G |
4: 42,791,750 (GRCm39) |
I794T |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,845,462 (GRCm39) |
I165S |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,923,594 (GRCm39) |
|
probably null |
Het |
| Tmem17 |
A |
T |
11: 22,467,427 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Tmem86b |
A |
T |
7: 4,632,608 (GRCm39) |
C85* |
probably null |
Het |
| Try5 |
A |
G |
6: 41,291,613 (GRCm39) |
F6S |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,265,281 (GRCm39) |
D67E |
probably benign |
Het |
| Wars2 |
A |
T |
3: 99,124,116 (GRCm39) |
M326L |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,821 (GRCm39) |
S108R |
unknown |
Het |
| Zfp677 |
A |
G |
17: 21,618,392 (GRCm39) |
H483R |
probably damaging |
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 |
|
R3115:Vmn2r71
|
UTSW |
7 |
85,272,866 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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'- AACAAGGTCTTTCAGTGGATCTC -3'
(R):5'- CCAGGGATCTACAATAGTGAGG -3'
Sequencing Primer
(F):5'- GGATCTCTGTTGTGGGAATCAC -3'
(R):5'- ACAATAGTGAGGCAAAAATACAGTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation