Incidental Mutation 'R1597:Vmn2r71'
| ID |
175867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r71
|
| Ensembl Gene |
ENSMUSG00000091205 |
| Gene Name |
vomeronasal 2, receptor 71 |
| Synonyms |
EG233445 |
| MMRRC Submission |
039634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85264670-85273755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85273352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 722
(V722A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172338]
|
| AlphaFold |
L7N2D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172338
AA Change: V722A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132337
Gene: ENSMUSG00000091205
AA Change: V722A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
A |
T |
19: 34,229,983 (GRCm39) |
|
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,881 (GRCm39) |
N748S |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,326 (GRCm39) |
I77N |
probably damaging |
Het |
| Ap1s1 |
A |
T |
5: 137,072,095 (GRCm39) |
M20K |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,892 (GRCm39) |
|
probably null |
Het |
| Atp1b1 |
G |
T |
1: 164,265,889 (GRCm39) |
R291S |
probably damaging |
Het |
| Birc7 |
T |
C |
2: 180,570,974 (GRCm39) |
V12A |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,582,211 (GRCm39) |
V259A |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,377,343 (GRCm39) |
N434K |
probably benign |
Het |
| Cel |
G |
T |
2: 28,450,479 (GRCm39) |
|
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,074 (GRCm39) |
K349E |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,239,768 (GRCm39) |
V315A |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,994,324 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,595,474 (GRCm39) |
T441A |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,041,152 (GRCm39) |
I286N |
probably damaging |
Het |
| Fbxl17 |
T |
C |
17: 63,794,813 (GRCm39) |
K423R |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,561,940 (GRCm39) |
T856A |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,543,901 (GRCm39) |
E64G |
probably damaging |
Het |
| Gzma |
T |
A |
13: 113,232,331 (GRCm39) |
N190I |
probably damaging |
Het |
| Ifngr1 |
C |
T |
10: 19,485,090 (GRCm39) |
T363M |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,782,732 (GRCm39) |
T690A |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,823,074 (GRCm39) |
E485G |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,123,336 (GRCm39) |
I203M |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,438,647 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
C |
T |
16: 32,770,781 (GRCm39) |
Q128* |
probably null |
Het |
| Lrriq4 |
C |
G |
3: 30,705,037 (GRCm39) |
P355R |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 5,003,563 (GRCm39) |
H551Q |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,319,060 (GRCm39) |
F763L |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,156,758 (GRCm39) |
V55E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,931,016 (GRCm39) |
N92K |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,815,560 (GRCm39) |
S667P |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,753,317 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,256,329 (GRCm39) |
M197L |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,964,483 (GRCm39) |
T844I |
probably benign |
Het |
| Nlrc3 |
T |
A |
16: 3,781,859 (GRCm39) |
R517W |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,573,995 (GRCm39) |
I227F |
probably damaging |
Het |
| Or52a5 |
A |
G |
7: 103,427,267 (GRCm39) |
F95S |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,906,953 (GRCm39) |
N73D |
probably damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,624,820 (GRCm39) |
R717G |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,413,964 (GRCm39) |
M1702L |
probably benign |
Het |
| Plxna2 |
A |
C |
1: 194,431,614 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,630,755 (GRCm39) |
M1221T |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,473,948 (GRCm39) |
D384G |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,925,438 (GRCm39) |
H67L |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,757,035 (GRCm39) |
L63S |
probably damaging |
Het |
| Psme1 |
A |
G |
14: 55,818,222 (GRCm39) |
T150A |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,621,940 (GRCm39) |
R33C |
probably damaging |
Het |
| Rela |
G |
A |
19: 5,695,359 (GRCm39) |
R295H |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,320,421 (GRCm39) |
V326E |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,391,563 (GRCm39) |
R43L |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,143 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,283,587 (GRCm39) |
A469T |
probably benign |
Het |
| Spaca7 |
G |
T |
8: 12,630,991 (GRCm39) |
E48* |
probably null |
Het |
| Syn3 |
G |
T |
10: 85,970,908 (GRCm39) |
T238K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,470,626 (GRCm39) |
S60P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,151,128 (GRCm39) |
I256T |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,552,196 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,061,511 (GRCm39) |
T588A |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,004 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
G |
A |
2: 120,814,843 (GRCm39) |
A169T |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,924,621 (GRCm39) |
S1026P |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,658,418 (GRCm39) |
S568P |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,888 (GRCm39) |
I947F |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,170,402 (GRCm39) |
L832Q |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,363,793 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,841,064 (GRCm39) |
D1009E |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,965,262 (GRCm39) |
E192G |
probably benign |
Het |
| Zfp386 |
T |
C |
12: 116,023,709 (GRCm39) |
S476P |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,755 (GRCm39) |
N1149I |
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 |
|
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 |
|
|
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'- ATTGTGCAGCAGATCACATTTGCC -3'
(R):5'- ACGACAGCCATAATCTTGCCTTTGG -3'
Sequencing Primer
(F):5'- CAGATCACATTTGCCATTGGG -3'
(R):5'- TGAAAGTGATCCAGACACTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation