Incidental Mutation 'R6962:Vmn2r96'
ID |
541849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r96
|
Ensembl Gene |
ENSMUSG00000091679 |
Gene Name |
vomeronasal 2, receptor 96 |
Synonyms |
EG433070 |
MMRRC Submission |
045072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R6962 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 18818283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 812
(I812S)
|
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: I620S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131564 Gene: ENSMUSG00000091679 AA Change: I620S
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: I812S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135095 Gene: ENSMUSG00000091679 AA Change: I812S
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: I812S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
96% (74/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,150 (GRCm39) |
K1016E |
probably benign |
Het |
Abca3 |
T |
C |
17: 24,583,700 (GRCm39) |
F30L |
probably benign |
Het |
Arhgap17 |
C |
T |
7: 122,895,655 (GRCm39) |
G490R |
probably damaging |
Het |
Arsg |
T |
A |
11: 109,412,495 (GRCm39) |
L140H |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,179,097 (GRCm39) |
C130* |
probably null |
Het |
C4b |
T |
C |
17: 34,951,140 (GRCm39) |
|
probably null |
Het |
Cdk5r2 |
A |
G |
1: 74,894,975 (GRCm39) |
Y240C |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,237,738 (GRCm39) |
|
probably benign |
Het |
Cubn |
G |
A |
2: 13,352,840 (GRCm39) |
S1966F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,058,208 (GRCm39) |
Y1509C |
probably benign |
Het |
Dpp4 |
A |
G |
2: 62,203,174 (GRCm39) |
V265A |
probably benign |
Het |
Dync2i1 |
A |
T |
12: 116,175,398 (GRCm39) |
D926E |
probably damaging |
Het |
Fbxl8 |
C |
A |
8: 105,995,338 (GRCm39) |
N283K |
possibly damaging |
Het |
Fev |
T |
A |
1: 74,921,299 (GRCm39) |
Q122L |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,301,951 (GRCm39) |
|
probably null |
Het |
Fnip2 |
A |
C |
3: 79,396,610 (GRCm39) |
L439R |
probably damaging |
Het |
Git1 |
C |
A |
11: 77,395,469 (GRCm39) |
Q389K |
probably benign |
Het |
Gm10509 |
C |
G |
17: 21,909,833 (GRCm39) |
I53M |
possibly damaging |
Het |
Gm5773 |
A |
T |
3: 93,681,234 (GRCm39) |
H302L |
possibly damaging |
Het |
Greb1l |
G |
T |
18: 10,547,327 (GRCm39) |
R1515L |
probably damaging |
Het |
Gsc2 |
T |
C |
16: 17,732,902 (GRCm39) |
Y2C |
possibly damaging |
Het |
H60b |
A |
G |
10: 22,162,053 (GRCm39) |
N93D |
probably benign |
Het |
Hgf |
G |
A |
5: 16,820,752 (GRCm39) |
R633Q |
probably benign |
Het |
Hmgb1 |
C |
T |
5: 148,985,633 (GRCm39) |
|
probably benign |
Het |
Hmmr |
T |
C |
11: 40,598,242 (GRCm39) |
T657A |
probably damaging |
Het |
Htt |
G |
T |
5: 35,057,115 (GRCm39) |
|
probably null |
Het |
Ift80 |
G |
A |
3: 68,901,878 (GRCm39) |
|
probably benign |
Het |
Kcnq5 |
G |
T |
1: 21,576,017 (GRCm39) |
T229K |
probably damaging |
Het |
Kcp |
C |
T |
6: 29,482,839 (GRCm39) |
R1410Q |
probably benign |
Het |
Klhl30 |
T |
G |
1: 91,285,137 (GRCm39) |
V331G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrrc37 |
G |
A |
11: 103,505,126 (GRCm39) |
P105S |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,334,515 (GRCm39) |
R2849Q |
probably benign |
Het |
Mex3b |
T |
G |
7: 82,518,473 (GRCm39) |
S263A |
probably benign |
Het |
Mrgpre |
A |
G |
7: 143,334,799 (GRCm39) |
S235P |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,307,363 (GRCm39) |
V226D |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Nudt8 |
G |
T |
19: 4,051,831 (GRCm39) |
L147F |
probably damaging |
Het |
Or2aj5 |
T |
A |
16: 19,424,672 (GRCm39) |
I249L |
probably benign |
Het |
Or52e8 |
T |
A |
7: 104,624,580 (GRCm39) |
N208I |
probably benign |
Het |
Or5w17 |
A |
G |
2: 87,584,071 (GRCm39) |
Y89H |
probably benign |
Het |
Or6z7 |
A |
T |
7: 6,484,008 (GRCm39) |
I49N |
probably benign |
Het |
P4htm |
C |
A |
9: 108,456,394 (GRCm39) |
A469S |
possibly damaging |
Het |
Pld4 |
A |
T |
12: 112,733,288 (GRCm39) |
H288L |
probably benign |
Het |
Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
Ppcs |
T |
G |
4: 119,279,375 (GRCm39) |
N59T |
probably damaging |
Het |
Ppm1k |
A |
T |
6: 57,492,645 (GRCm39) |
C214S |
probably damaging |
Het |
Psg25 |
C |
T |
7: 18,263,679 (GRCm39) |
G48E |
probably damaging |
Het |
Rassf7 |
A |
G |
7: 140,797,503 (GRCm39) |
T239A |
possibly damaging |
Het |
Rgs3 |
G |
T |
4: 62,618,952 (GRCm39) |
|
probably benign |
Het |
Scaper |
T |
C |
9: 55,767,055 (GRCm39) |
T465A |
probably benign |
Het |
Slc4a7 |
G |
T |
14: 14,746,021 (GRCm38) |
G405C |
probably damaging |
Het |
Smpd3 |
T |
C |
8: 106,991,851 (GRCm39) |
D234G |
probably benign |
Het |
Spata31f1e |
T |
C |
4: 42,793,323 (GRCm39) |
T270A |
probably damaging |
Het |
Ssc4d |
A |
G |
5: 135,991,775 (GRCm39) |
|
probably null |
Het |
Sugct |
G |
T |
13: 17,032,606 (GRCm39) |
|
probably null |
Het |
Taok2 |
C |
A |
7: 126,466,088 (GRCm39) |
|
probably null |
Het |
Tbx20 |
A |
G |
9: 24,681,036 (GRCm39) |
V152A |
probably damaging |
Het |
Tbx4 |
A |
G |
11: 85,781,085 (GRCm39) |
E66G |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,902,082 (GRCm39) |
E382G |
probably benign |
Het |
Ticrr |
T |
G |
7: 79,315,645 (GRCm39) |
S300A |
possibly damaging |
Het |
Trim46 |
A |
G |
3: 89,146,303 (GRCm39) |
L396P |
probably damaging |
Het |
Trim56 |
A |
G |
5: 137,141,501 (GRCm39) |
F672L |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,858,453 (GRCm39) |
L712S |
probably damaging |
Het |
Unc93b1 |
T |
G |
19: 3,986,303 (GRCm39) |
D112E |
possibly damaging |
Het |
Usp17lc |
T |
C |
7: 103,068,118 (GRCm39) |
L471P |
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,261,452 (GRCm39) |
I295T |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,998,359 (GRCm39) |
C1102Y |
possibly damaging |
Het |
Wnt9b |
G |
T |
11: 103,624,515 (GRCm39) |
Q92K |
probably null |
Het |
Zbtb26 |
A |
T |
2: 37,326,106 (GRCm39) |
M310K |
possibly damaging |
Het |
Zdhhc1 |
T |
C |
8: 106,210,279 (GRCm39) |
H46R |
probably damaging |
Het |
Zfp628 |
G |
T |
7: 4,922,549 (GRCm39) |
R257L |
probably benign |
Het |
Zfp747l1 |
A |
T |
7: 126,983,487 (GRCm39) |
D538E |
possibly damaging |
Het |
Zmat4 |
A |
G |
8: 24,392,181 (GRCm39) |
T46A |
probably benign |
Het |
Zmiz2 |
T |
A |
11: 6,352,455 (GRCm39) |
W637R |
probably damaging |
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 |
R0316:Vmn2r96
|
UTSW |
17 |
18,802,827 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ATGGCCCTTGGGAGTTATGC -3'
(R):5'- ATCAGGTCTTATACTCAGAGAAGC -3'
Sequencing Primer
(F):5'- CCCTTGGGAGTTATGCTATGGCC -3'
(R):5'- TGAATAATGCCATTCATGAGGTTG -3'
|
Posted On |
2018-11-28 |