Incidental Mutation 'R8778:Vmn2r75'
ID |
670118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r75
|
Ensembl Gene |
ENSMUSG00000090436 |
Gene Name |
vomeronasal 2, receptor 75 |
Synonyms |
EG546981 |
MMRRC Submission |
068603-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8778 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
85797250-85820932 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85813497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 435
(I435N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167830]
|
AlphaFold |
G5E8Z7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167830
AA Change: I435N
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126973 Gene: ENSMUSG00000090436 AA Change: I435N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
80 |
466 |
2.8e-31 |
PFAM |
Pfam:NCD3G
|
510 |
562 |
4.6e-20 |
PFAM |
Pfam:7tm_3
|
593 |
829 |
7.7e-51 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
A |
5: 138,645,149 (GRCm39) |
C345S |
possibly damaging |
Het |
Acod1 |
A |
G |
14: 103,292,918 (GRCm39) |
T481A |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 85,432,687 (GRCm39) |
V5A |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,783,158 (GRCm38) |
Q1023L |
|
Het |
Akt1 |
C |
T |
12: 112,625,102 (GRCm39) |
E149K |
probably benign |
Het |
Arhgap10 |
T |
C |
8: 78,140,240 (GRCm39) |
E240G |
probably damaging |
Het |
Asap1 |
G |
A |
15: 63,999,258 (GRCm39) |
P516S |
probably benign |
Het |
Ccdc88c |
T |
C |
12: 100,911,483 (GRCm39) |
R784G |
probably benign |
Het |
Cep290 |
T |
A |
10: 100,350,374 (GRCm39) |
L656* |
probably null |
Het |
Chd2 |
A |
C |
7: 73,079,483 (GRCm39) |
S1806A |
possibly damaging |
Het |
Cyp4f15 |
G |
T |
17: 32,921,378 (GRCm39) |
A475S |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,455,718 (GRCm39) |
T814A |
probably benign |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Eif4g1 |
G |
A |
16: 20,492,196 (GRCm39) |
|
probably benign |
Het |
Entpd8 |
G |
A |
2: 24,971,858 (GRCm39) |
V9I |
probably benign |
Het |
Frmd4a |
C |
T |
2: 4,478,026 (GRCm39) |
T65M |
probably damaging |
Het |
Gabrr2 |
T |
C |
4: 33,095,517 (GRCm39) |
Y469H |
probably damaging |
Het |
Gjd3 |
T |
C |
11: 98,873,842 (GRCm39) |
M1V |
probably null |
Het |
Golga7 |
T |
C |
8: 23,735,944 (GRCm39) |
N101D |
possibly damaging |
Het |
Hebp1 |
A |
G |
6: 135,145,068 (GRCm39) |
F10L |
probably benign |
Het |
Hs3st3a1 |
T |
A |
11: 64,327,251 (GRCm39) |
V120E |
probably benign |
Het |
Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
Iho1 |
A |
G |
9: 108,282,807 (GRCm39) |
S294P |
probably damaging |
Het |
Inhbc |
A |
G |
10: 127,193,693 (GRCm39) |
S108P |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,078,075 (GRCm39) |
D188E |
probably benign |
Het |
Lmo7 |
T |
G |
14: 102,149,503 (GRCm39) |
S1091A |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,156,655 (GRCm39) |
V1275A |
probably benign |
Het |
Lrrc25 |
T |
G |
8: 71,070,242 (GRCm39) |
L8V |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,810,361 (GRCm39) |
I677T |
possibly damaging |
Het |
Lyst |
A |
G |
13: 13,903,152 (GRCm39) |
N3174S |
possibly damaging |
Het |
Mgst3 |
C |
T |
1: 167,203,032 (GRCm39) |
V80I |
probably benign |
Het |
Mtmr12 |
A |
G |
15: 12,270,006 (GRCm39) |
N698S |
probably benign |
Het |
Myo18a |
A |
G |
11: 77,714,150 (GRCm39) |
Y748C |
probably damaging |
Het |
Myoz2 |
T |
C |
3: 122,800,156 (GRCm39) |
N224S |
possibly damaging |
Het |
Nebl |
T |
C |
2: 17,409,078 (GRCm39) |
Y340C |
probably damaging |
Het |
Or10h28 |
T |
C |
17: 33,488,420 (GRCm39) |
S241P |
probably damaging |
Het |
Pcdha9 |
G |
T |
18: 37,132,244 (GRCm39) |
V438L |
possibly damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,466 (GRCm39) |
D367G |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,943,356 (GRCm39) |
E208V |
probably damaging |
Het |
Sfrp2 |
T |
G |
3: 83,674,093 (GRCm39) |
L82R |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,624,815 (GRCm39) |
L239Q |
probably damaging |
Het |
Syncrip |
A |
T |
9: 88,338,294 (GRCm39) |
I590N |
unknown |
Het |
Syne1 |
T |
C |
10: 5,309,066 (GRCm39) |
T648A |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,222,816 (GRCm39) |
Y172C |
unknown |
Het |
Trim30a |
A |
T |
7: 104,060,772 (GRCm39) |
Y335N |
probably benign |
Het |
Trmt10c |
A |
G |
16: 55,855,372 (GRCm39) |
S88P |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,725,070 (GRCm39) |
E302G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,591,580 (GRCm39) |
T21030A |
possibly damaging |
Het |
Uba6 |
G |
T |
5: 86,260,556 (GRCm39) |
P1039T |
possibly damaging |
Het |
Zfp1008 |
T |
C |
13: 62,753,169 (GRCm39) |
K73E |
possibly damaging |
Het |
Zkscan5 |
T |
C |
5: 145,155,142 (GRCm39) |
V271A |
probably benign |
Het |
|
Other mutations in Vmn2r75 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Vmn2r75
|
APN |
7 |
85,797,240 (GRCm39) |
unclassified |
probably benign |
|
IGL01287:Vmn2r75
|
APN |
7 |
85,797,801 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01318:Vmn2r75
|
APN |
7 |
85,814,774 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01331:Vmn2r75
|
APN |
7 |
85,820,870 (GRCm39) |
nonsense |
probably null |
|
IGL01406:Vmn2r75
|
APN |
7 |
85,812,500 (GRCm39) |
splice site |
probably benign |
|
IGL01615:Vmn2r75
|
APN |
7 |
85,797,681 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01657:Vmn2r75
|
APN |
7 |
85,813,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02237:Vmn2r75
|
APN |
7 |
85,814,786 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02275:Vmn2r75
|
APN |
7 |
85,814,348 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02307:Vmn2r75
|
APN |
7 |
85,814,974 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03136:Vmn2r75
|
APN |
7 |
85,797,911 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03160:Vmn2r75
|
APN |
7 |
85,797,644 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03244:Vmn2r75
|
APN |
7 |
85,820,933 (GRCm39) |
unclassified |
probably benign |
|
PIT4449001:Vmn2r75
|
UTSW |
7 |
85,814,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Vmn2r75
|
UTSW |
7 |
85,797,309 (GRCm39) |
nonsense |
probably null |
|
R0049:Vmn2r75
|
UTSW |
7 |
85,797,309 (GRCm39) |
nonsense |
probably null |
|
R0083:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
R0108:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
R0276:Vmn2r75
|
UTSW |
7 |
85,797,515 (GRCm39) |
missense |
probably benign |
0.01 |
R0320:Vmn2r75
|
UTSW |
7 |
85,814,288 (GRCm39) |
missense |
probably benign |
0.36 |
R0471:Vmn2r75
|
UTSW |
7 |
85,814,721 (GRCm39) |
missense |
probably benign |
0.01 |
R0562:Vmn2r75
|
UTSW |
7 |
85,797,449 (GRCm39) |
nonsense |
probably null |
|
R0631:Vmn2r75
|
UTSW |
7 |
85,812,478 (GRCm39) |
missense |
probably null |
1.00 |
R0661:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
R0811:Vmn2r75
|
UTSW |
7 |
85,814,575 (GRCm39) |
missense |
probably benign |
0.38 |
R0812:Vmn2r75
|
UTSW |
7 |
85,814,575 (GRCm39) |
missense |
probably benign |
0.38 |
R0891:Vmn2r75
|
UTSW |
7 |
85,813,476 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1340:Vmn2r75
|
UTSW |
7 |
85,797,798 (GRCm39) |
missense |
probably damaging |
0.98 |
R1501:Vmn2r75
|
UTSW |
7 |
85,814,850 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1760:Vmn2r75
|
UTSW |
7 |
85,798,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Vmn2r75
|
UTSW |
7 |
85,797,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Vmn2r75
|
UTSW |
7 |
85,814,372 (GRCm39) |
missense |
probably benign |
0.00 |
R2292:Vmn2r75
|
UTSW |
7 |
85,798,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R3688:Vmn2r75
|
UTSW |
7 |
85,797,629 (GRCm39) |
missense |
probably damaging |
0.99 |
R3892:Vmn2r75
|
UTSW |
7 |
85,813,494 (GRCm39) |
missense |
probably null |
1.00 |
R4532:Vmn2r75
|
UTSW |
7 |
85,797,349 (GRCm39) |
nonsense |
probably null |
|
R4583:Vmn2r75
|
UTSW |
7 |
85,813,290 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4592:Vmn2r75
|
UTSW |
7 |
85,815,494 (GRCm39) |
missense |
probably benign |
0.00 |
R4792:Vmn2r75
|
UTSW |
7 |
85,812,378 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4859:Vmn2r75
|
UTSW |
7 |
85,797,611 (GRCm39) |
missense |
probably benign |
0.35 |
R4896:Vmn2r75
|
UTSW |
7 |
85,820,787 (GRCm39) |
missense |
probably benign |
0.01 |
R4943:Vmn2r75
|
UTSW |
7 |
85,814,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R4992:Vmn2r75
|
UTSW |
7 |
85,815,375 (GRCm39) |
critical splice donor site |
probably null |
|
R5048:Vmn2r75
|
UTSW |
7 |
85,814,735 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5063:Vmn2r75
|
UTSW |
7 |
85,813,372 (GRCm39) |
missense |
probably benign |
|
R5156:Vmn2r75
|
UTSW |
7 |
85,813,436 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5243:Vmn2r75
|
UTSW |
7 |
85,813,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R5277:Vmn2r75
|
UTSW |
7 |
85,815,500 (GRCm39) |
missense |
probably benign |
|
R5574:Vmn2r75
|
UTSW |
7 |
85,815,510 (GRCm39) |
missense |
probably benign |
0.22 |
R5622:Vmn2r75
|
UTSW |
7 |
85,797,702 (GRCm39) |
missense |
probably benign |
0.15 |
R5680:Vmn2r75
|
UTSW |
7 |
85,820,779 (GRCm39) |
missense |
probably benign |
0.10 |
R5884:Vmn2r75
|
UTSW |
7 |
85,814,578 (GRCm39) |
missense |
probably benign |
|
R6021:Vmn2r75
|
UTSW |
7 |
85,820,820 (GRCm39) |
missense |
probably benign |
0.01 |
R6217:Vmn2r75
|
UTSW |
7 |
85,815,375 (GRCm39) |
critical splice donor site |
probably benign |
|
R6242:Vmn2r75
|
UTSW |
7 |
85,814,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Vmn2r75
|
UTSW |
7 |
85,814,482 (GRCm39) |
missense |
probably benign |
0.12 |
R6441:Vmn2r75
|
UTSW |
7 |
85,820,784 (GRCm39) |
missense |
probably damaging |
0.99 |
R6495:Vmn2r75
|
UTSW |
7 |
85,813,287 (GRCm39) |
missense |
probably benign |
0.00 |
R6553:Vmn2r75
|
UTSW |
7 |
85,813,453 (GRCm39) |
missense |
probably benign |
0.28 |
R6670:Vmn2r75
|
UTSW |
7 |
85,797,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R7078:Vmn2r75
|
UTSW |
7 |
85,815,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Vmn2r75
|
UTSW |
7 |
85,814,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R8411:Vmn2r75
|
UTSW |
7 |
85,797,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R8507:Vmn2r75
|
UTSW |
7 |
85,797,685 (GRCm39) |
nonsense |
probably null |
|
R8559:Vmn2r75
|
UTSW |
7 |
85,815,480 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8677:Vmn2r75
|
UTSW |
7 |
85,814,410 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8708:Vmn2r75
|
UTSW |
7 |
85,812,476 (GRCm39) |
missense |
probably damaging |
0.99 |
R8968:Vmn2r75
|
UTSW |
7 |
85,820,765 (GRCm39) |
nonsense |
probably null |
|
R9145:Vmn2r75
|
UTSW |
7 |
85,813,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R9316:Vmn2r75
|
UTSW |
7 |
85,797,313 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9363:Vmn2r75
|
UTSW |
7 |
85,815,423 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGTTGACCACTTGGAAG -3'
(R):5'- CACTATTGGCAGTTAAAACACAGAG -3'
Sequencing Primer
(F):5'- GCTGTTGACCACTTGGAAGATAACC -3'
(R):5'- AGAATGTGTCATTACTCTTCAAACAG -3'
|
Posted On |
2021-04-30 |