Incidental Mutation 'R0316:Vmn2r96'
ID |
34228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r96
|
Ensembl Gene |
ENSMUSG00000091679 |
Gene Name |
vomeronasal 2, receptor 96 |
Synonyms |
EG433070 |
MMRRC Submission |
038526-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R0316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18802827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 246
(F246I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
AlphaFold |
E9PZU5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165692
AA Change: F54I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131564 Gene: ENSMUSG00000091679 AA Change: F54I
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
257 |
8.6e-20 |
PFAM |
Pfam:NCD3G
|
317 |
370 |
3.7e-22 |
PFAM |
Pfam:7tm_3
|
402 |
638 |
3.9e-53 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177244
AA Change: F246I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135095 Gene: ENSMUSG00000091679 AA Change: F246I
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
245 |
4.2e-19 |
PFAM |
Pfam:NCD3G
|
317 |
370 |
6.9e-21 |
PFAM |
Pfam:7tm_3
|
400 |
639 |
3.4e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231261
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231286
AA Change: F246I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,888,765 (GRCm39) |
F276I |
probably damaging |
Het |
Ado |
A |
G |
10: 67,384,548 (GRCm39) |
L19P |
possibly damaging |
Het |
Ago2 |
T |
C |
15: 73,002,725 (GRCm39) |
H169R |
probably damaging |
Het |
Asic1 |
G |
A |
15: 99,569,819 (GRCm39) |
A47T |
probably benign |
Het |
Atg16l2 |
A |
T |
7: 100,942,603 (GRCm39) |
I364N |
probably damaging |
Het |
C130050O18Rik |
G |
A |
5: 139,400,313 (GRCm39) |
R122Q |
probably damaging |
Het |
Capn7 |
T |
A |
14: 31,069,766 (GRCm39) |
C197S |
probably benign |
Het |
Casp16 |
T |
C |
17: 23,771,066 (GRCm39) |
D113G |
probably damaging |
Het |
Cdh18 |
T |
A |
15: 23,366,999 (GRCm39) |
V235D |
probably damaging |
Het |
Clca4a |
G |
T |
3: 144,659,525 (GRCm39) |
T777K |
probably damaging |
Het |
Col17a1 |
A |
G |
19: 47,673,972 (GRCm39) |
|
probably null |
Het |
Col5a3 |
C |
A |
9: 20,686,621 (GRCm39) |
D1335Y |
unknown |
Het |
Cpxm1 |
T |
C |
2: 130,235,091 (GRCm39) |
E576G |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,253,808 (GRCm39) |
S182P |
probably damaging |
Het |
Dclk1 |
C |
T |
3: 55,410,313 (GRCm39) |
S616L |
probably damaging |
Het |
Dll4 |
C |
A |
2: 119,161,634 (GRCm39) |
D405E |
probably damaging |
Het |
Dnah1 |
G |
A |
14: 31,000,108 (GRCm39) |
R2462C |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,564,882 (GRCm39) |
Y2594N |
possibly damaging |
Het |
Ess2 |
G |
A |
16: 17,727,958 (GRCm39) |
P103S |
probably benign |
Het |
Fam110a |
C |
A |
2: 151,812,006 (GRCm39) |
A255S |
probably benign |
Het |
Fbn2 |
G |
A |
18: 58,246,397 (GRCm39) |
R502W |
probably damaging |
Het |
Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
Gm1527 |
T |
C |
3: 28,969,923 (GRCm39) |
S342P |
probably damaging |
Het |
Gm19668 |
A |
T |
10: 77,634,564 (GRCm39) |
|
probably benign |
Het |
Gm5901 |
A |
T |
7: 105,026,522 (GRCm39) |
T97S |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,547,420 (GRCm39) |
Y1546C |
probably damaging |
Het |
Impg1 |
A |
T |
9: 80,249,347 (GRCm39) |
S619T |
probably damaging |
Het |
Itih2 |
C |
A |
2: 10,110,057 (GRCm39) |
Q565H |
possibly damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,464 (GRCm39) |
N386K |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,652,934 (GRCm39) |
M218T |
probably benign |
Het |
Lipg |
T |
C |
18: 75,094,012 (GRCm39) |
S12G |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mex3d |
G |
T |
10: 80,217,505 (GRCm39) |
P571T |
probably damaging |
Het |
Neb |
A |
C |
2: 52,085,482 (GRCm39) |
Y1538D |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,361,584 (GRCm39) |
I184T |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5b99 |
T |
A |
19: 12,976,766 (GRCm39) |
C139S |
probably damaging |
Het |
Or5w18 |
T |
C |
2: 87,633,525 (GRCm39) |
F264S |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,185,149 (GRCm39) |
|
silent |
Het |
Pdcd11 |
T |
C |
19: 47,101,611 (GRCm39) |
V932A |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,625,032 (GRCm39) |
D276G |
probably damaging |
Het |
Pkia |
T |
A |
3: 7,502,499 (GRCm39) |
D25E |
probably damaging |
Het |
Plxna2 |
A |
C |
1: 194,326,458 (GRCm39) |
S131R |
probably damaging |
Het |
Prelid1 |
T |
C |
13: 55,472,220 (GRCm39) |
V132A |
possibly damaging |
Het |
Psma3 |
T |
C |
12: 71,030,163 (GRCm39) |
Y59H |
probably benign |
Het |
Ptchd3 |
A |
C |
11: 121,732,916 (GRCm39) |
E602A |
possibly damaging |
Het |
Ptpro |
T |
C |
6: 137,353,987 (GRCm39) |
V121A |
possibly damaging |
Het |
Ptprt |
A |
G |
2: 161,449,239 (GRCm39) |
L878P |
probably damaging |
Het |
Pxn |
G |
A |
5: 115,692,027 (GRCm39) |
G370S |
probably damaging |
Het |
Rcn2 |
G |
T |
9: 55,949,453 (GRCm39) |
A40S |
probably benign |
Het |
Rnf215 |
A |
G |
11: 4,089,760 (GRCm39) |
N258D |
probably damaging |
Het |
Rnpc3 |
T |
C |
3: 113,423,622 (GRCm39) |
T28A |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,997,795 (GRCm39) |
V1100E |
possibly damaging |
Het |
Scn3a |
T |
A |
2: 65,291,173 (GRCm39) |
I1858F |
probably damaging |
Het |
Slc9c1 |
G |
A |
16: 45,400,595 (GRCm39) |
R735Q |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,929,788 (GRCm39) |
T449A |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,072,737 (GRCm39) |
W2191R |
probably damaging |
Het |
Thbs1 |
G |
A |
2: 117,948,055 (GRCm39) |
R405H |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,948,137 (GRCm39) |
Y859H |
possibly damaging |
Het |
Tonsl |
A |
G |
15: 76,513,500 (GRCm39) |
S1245P |
possibly damaging |
Het |
Tpcn1 |
G |
A |
5: 120,677,324 (GRCm39) |
T661M |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,863,424 (GRCm39) |
F533L |
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
Vax2 |
T |
C |
6: 83,688,426 (GRCm39) |
S50P |
possibly damaging |
Het |
Vmn1r5 |
A |
C |
6: 56,962,784 (GRCm39) |
E153A |
probably benign |
Het |
Vmn2r14 |
G |
T |
5: 109,366,762 (GRCm39) |
P486Q |
probably benign |
Het |
Zc3h10 |
C |
A |
10: 128,380,624 (GRCm39) |
E244D |
probably damaging |
Het |
Zdhhc18 |
T |
A |
4: 133,340,966 (GRCm39) |
K265* |
probably null |
Het |
|
Other mutations in Vmn2r96 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Vmn2r96
|
APN |
17 |
18,804,077 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00563:Vmn2r96
|
APN |
17 |
18,804,077 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00769:Vmn2r96
|
APN |
17 |
18,804,081 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01314:Vmn2r96
|
APN |
17 |
18,803,226 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01983:Vmn2r96
|
APN |
17 |
18,817,527 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02314:Vmn2r96
|
APN |
17 |
18,804,221 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02600:Vmn2r96
|
APN |
17 |
18,817,829 (GRCm39) |
missense |
probably benign |
|
IGL02672:Vmn2r96
|
APN |
17 |
18,818,376 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02750:Vmn2r96
|
APN |
17 |
18,802,851 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03068:Vmn2r96
|
APN |
17 |
18,803,137 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03411:Vmn2r96
|
APN |
17 |
18,806,634 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0502:Vmn2r96
|
UTSW |
17 |
18,804,262 (GRCm39) |
missense |
probably benign |
|
R0580:Vmn2r96
|
UTSW |
17 |
18,802,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Vmn2r96
|
UTSW |
17 |
18,817,830 (GRCm39) |
missense |
probably benign |
0.05 |
R0789:Vmn2r96
|
UTSW |
17 |
18,802,738 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1462:Vmn2r96
|
UTSW |
17 |
18,817,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1462:Vmn2r96
|
UTSW |
17 |
18,817,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1660:Vmn2r96
|
UTSW |
17 |
18,817,988 (GRCm39) |
missense |
probably benign |
0.00 |
R1755:Vmn2r96
|
UTSW |
17 |
18,802,915 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1843:Vmn2r96
|
UTSW |
17 |
18,818,183 (GRCm39) |
missense |
probably benign |
0.14 |
R1943:Vmn2r96
|
UTSW |
17 |
18,806,664 (GRCm39) |
missense |
probably benign |
0.09 |
R1993:Vmn2r96
|
UTSW |
17 |
18,804,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Vmn2r96
|
UTSW |
17 |
18,804,263 (GRCm39) |
missense |
probably benign |
|
R2405:Vmn2r96
|
UTSW |
17 |
18,818,102 (GRCm39) |
missense |
probably damaging |
0.96 |
R3977:Vmn2r96
|
UTSW |
17 |
18,817,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Vmn2r96
|
UTSW |
17 |
18,817,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R4059:Vmn2r96
|
UTSW |
17 |
18,818,339 (GRCm39) |
missense |
probably benign |
0.20 |
R4693:Vmn2r96
|
UTSW |
17 |
18,803,270 (GRCm39) |
missense |
probably benign |
0.03 |
R4709:Vmn2r96
|
UTSW |
17 |
18,803,088 (GRCm39) |
missense |
probably benign |
0.36 |
R4776:Vmn2r96
|
UTSW |
17 |
18,817,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4882:Vmn2r96
|
UTSW |
17 |
18,817,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4920:Vmn2r96
|
UTSW |
17 |
18,802,918 (GRCm39) |
missense |
probably benign |
0.07 |
R5143:Vmn2r96
|
UTSW |
17 |
18,804,120 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5301:Vmn2r96
|
UTSW |
17 |
18,817,950 (GRCm39) |
missense |
probably damaging |
0.98 |
R5507:Vmn2r96
|
UTSW |
17 |
18,818,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Vmn2r96
|
UTSW |
17 |
18,804,221 (GRCm39) |
missense |
probably benign |
0.01 |
R6181:Vmn2r96
|
UTSW |
17 |
18,804,126 (GRCm39) |
missense |
probably benign |
|
R6339:Vmn2r96
|
UTSW |
17 |
18,804,124 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6404:Vmn2r96
|
UTSW |
17 |
18,817,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6452:Vmn2r96
|
UTSW |
17 |
18,804,117 (GRCm39) |
missense |
probably benign |
0.07 |
R6749:Vmn2r96
|
UTSW |
17 |
18,818,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R6813:Vmn2r96
|
UTSW |
17 |
18,802,116 (GRCm39) |
missense |
probably benign |
0.04 |
R6851:Vmn2r96
|
UTSW |
17 |
18,802,800 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6944:Vmn2r96
|
UTSW |
17 |
18,817,891 (GRCm39) |
missense |
probably benign |
0.16 |
R6949:Vmn2r96
|
UTSW |
17 |
18,818,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6962:Vmn2r96
|
UTSW |
17 |
18,818,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R6990:Vmn2r96
|
UTSW |
17 |
18,804,082 (GRCm39) |
missense |
probably benign |
|
R7149:Vmn2r96
|
UTSW |
17 |
18,817,989 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7346:Vmn2r96
|
UTSW |
17 |
18,803,029 (GRCm39) |
missense |
probably benign |
0.15 |
R7385:Vmn2r96
|
UTSW |
17 |
18,803,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Vmn2r96
|
UTSW |
17 |
18,793,662 (GRCm39) |
missense |
probably benign |
0.02 |
R7509:Vmn2r96
|
UTSW |
17 |
18,802,995 (GRCm39) |
missense |
probably benign |
0.02 |
R7652:Vmn2r96
|
UTSW |
17 |
18,793,832 (GRCm39) |
missense |
probably benign |
|
R7659:Vmn2r96
|
UTSW |
17 |
18,793,749 (GRCm39) |
missense |
probably benign |
0.00 |
R7753:Vmn2r96
|
UTSW |
17 |
18,806,663 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7855:Vmn2r96
|
UTSW |
17 |
18,818,130 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8166:Vmn2r96
|
UTSW |
17 |
18,802,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Vmn2r96
|
UTSW |
17 |
18,804,243 (GRCm39) |
missense |
probably benign |
0.04 |
R8323:Vmn2r96
|
UTSW |
17 |
18,803,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R8787:Vmn2r96
|
UTSW |
17 |
18,818,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R8837:Vmn2r96
|
UTSW |
17 |
18,802,888 (GRCm39) |
missense |
probably benign |
|
R8933:Vmn2r96
|
UTSW |
17 |
18,804,241 (GRCm39) |
missense |
probably benign |
0.11 |
R9306:Vmn2r96
|
UTSW |
17 |
18,803,226 (GRCm39) |
missense |
probably benign |
0.00 |
R9481:Vmn2r96
|
UTSW |
17 |
18,793,621 (GRCm39) |
start gained |
probably benign |
|
R9626:Vmn2r96
|
UTSW |
17 |
18,793,758 (GRCm39) |
missense |
probably benign |
0.14 |
R9629:Vmn2r96
|
UTSW |
17 |
18,803,257 (GRCm39) |
missense |
probably benign |
0.15 |
Z1088:Vmn2r96
|
UTSW |
17 |
18,817,628 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Vmn2r96
|
UTSW |
17 |
18,818,376 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACCTTTTGATCTTCTCCTGAGTGAC -3'
(R):5'- AGCATTGGTTTGACAGTTTTCCAACAC -3'
Sequencing Primer
(F):5'- ATGGTCAGTATCCTTCTCTCTACCAG -3'
(R):5'- GTGCTTAAAAATGAGGCTCCC -3'
|
Posted On |
2013-05-09 |