Incidental Mutation 'R4334:Vmn2r71'
ID |
323696 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r71
|
Ensembl Gene |
ENSMUSG00000091205 |
Gene Name |
vomeronasal 2, receptor 71 |
Synonyms |
EG233445 |
MMRRC Submission |
041664-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R4334 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
85264670-85273755 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85269042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 415
(V415A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172338]
|
AlphaFold |
L7N2D8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172338
AA Change: V415A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000132337 Gene: ENSMUSG00000091205 AA Change: V415A
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
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 |
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 |
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'- CCAAACTGTGGTGGACATATTTTAG -3'
(R):5'- ACAGAAACATAAGCTTCCTCCTATG -3'
Sequencing Primer
(F):5'- AGATGTTCTTTGCCACCATCTAATTG -3'
(R):5'- GGCTTTAGACCATTTGATTC -3'
|
Posted On |
2015-06-24 |