Incidental Mutation 'R4850:Vmn2r95'
| ID |
373496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r95
|
| Ensembl Gene |
ENSMUSG00000091631 |
| Gene Name |
vomeronasal 2, receptor 95 |
| Synonyms |
|
| MMRRC Submission |
042462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18644366-18672586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18671915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 551
(Y551H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166327]
[ENSMUST00000232090]
[ENSMUST00000232464]
|
| AlphaFold |
A0A338P6T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166327
|
| SMART Domains |
Protein: ENSMUSP00000126106
Gene: ENSMUSG00000091631
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
82 |
462 |
1.8e-35 |
PFAM |
|
Pfam:NCD3G
|
509 |
562 |
3.2e-20 |
PFAM |
|
Pfam:7tm_3
|
594 |
830 |
3.2e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232090
AA Change: Y623H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232464
AA Change: Y551H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
99% (79/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,709,429 (GRCm39) |
A42T |
probably benign |
Het |
| Acsf3 |
T |
C |
8: 123,544,175 (GRCm39) |
V551A |
probably damaging |
Het |
| Adgrl2 |
G |
A |
3: 148,564,656 (GRCm39) |
T304I |
probably damaging |
Het |
| Akr1d1 |
A |
G |
6: 37,531,522 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,412,645 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,047,998 (GRCm39) |
I847T |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 4,993,251 (GRCm39) |
G257S |
probably benign |
Het |
| Cand2 |
A |
T |
6: 115,778,909 (GRCm39) |
T1158S |
probably benign |
Het |
| Cic |
G |
A |
7: 24,972,327 (GRCm39) |
R686H |
probably damaging |
Het |
| Cldn1 |
T |
A |
16: 26,181,913 (GRCm39) |
T99S |
probably benign |
Het |
| Cnga3 |
G |
T |
1: 37,297,087 (GRCm39) |
E173* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
| Cryge |
G |
T |
1: 65,090,211 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,376,445 (GRCm39) |
L1410H |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,134,364 (GRCm39) |
T1548A |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,756,878 (GRCm39) |
D1917G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fn3krp |
A |
T |
11: 121,315,879 (GRCm39) |
H90L |
possibly damaging |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,469,908 (GRCm39) |
I55K |
probably damaging |
Het |
| Gsn |
T |
A |
2: 35,173,912 (GRCm39) |
|
probably null |
Het |
| H2bc11 |
G |
T |
13: 22,227,421 (GRCm39) |
|
probably benign |
Het |
| Haghl |
T |
C |
17: 26,001,980 (GRCm39) |
|
probably benign |
Het |
| Hmg20b |
T |
A |
10: 81,182,761 (GRCm39) |
E139V |
probably damaging |
Het |
| Hsd3b6 |
G |
A |
3: 98,715,221 (GRCm39) |
T57I |
probably benign |
Het |
| Igkv5-48 |
A |
G |
6: 69,703,780 (GRCm39) |
S42P |
probably damaging |
Het |
| Igsf23 |
T |
C |
7: 19,687,859 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,798,112 (GRCm39) |
F874L |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,237,162 (GRCm39) |
F110L |
possibly damaging |
Het |
| Mtpap |
C |
T |
18: 4,387,044 (GRCm39) |
R365W |
probably damaging |
Het |
| Mtus1 |
A |
C |
8: 41,537,507 (GRCm39) |
S70A |
possibly damaging |
Het |
| Nfatc1 |
T |
A |
18: 80,741,080 (GRCm39) |
T307S |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,162,657 (GRCm39) |
S379A |
possibly damaging |
Het |
| Nup205 |
A |
G |
6: 35,207,465 (GRCm39) |
T1506A |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,450 (GRCm39) |
S18P |
possibly damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,015 (GRCm39) |
I49F |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,860,762 (GRCm39) |
Y606F |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,297,281 (GRCm39) |
V123A |
probably benign |
Het |
| Pex1 |
C |
T |
5: 3,674,426 (GRCm39) |
T809I |
probably benign |
Het |
| Prdm13 |
C |
A |
4: 21,678,243 (GRCm39) |
R749L |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,705,887 (GRCm39) |
E67V |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,359,063 (GRCm39) |
E417G |
possibly damaging |
Het |
| Rangrf |
A |
G |
11: 68,864,466 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,418,898 (GRCm39) |
K738M |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,683,706 (GRCm39) |
D3119E |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,760,638 (GRCm39) |
R1482C |
probably damaging |
Het |
| Sbspon |
T |
A |
1: 15,929,192 (GRCm39) |
T200S |
probably damaging |
Het |
| Sfxn5 |
T |
C |
6: 85,309,358 (GRCm39) |
|
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,873,857 (GRCm39) |
I377F |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,786,657 (GRCm39) |
F72L |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,456,112 (GRCm39) |
F256L |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,839,558 (GRCm39) |
|
noncoding transcript |
Het |
| Smpd1 |
A |
G |
7: 105,205,192 (GRCm39) |
H357R |
probably benign |
Het |
| Sncaip |
A |
T |
18: 53,004,456 (GRCm39) |
H361L |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 35,914,315 (GRCm39) |
Y2406* |
probably null |
Het |
| Terb1 |
T |
A |
8: 105,212,057 (GRCm39) |
H308L |
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,070 (GRCm39) |
L397H |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,035,594 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,611,899 (GRCm39) |
E9007D |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,592,302 (GRCm39) |
C319* |
probably null |
Het |
| Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
| Xdh |
A |
G |
17: 74,205,330 (GRCm39) |
L1045P |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,956,457 (GRCm39) |
I1688T |
possibly damaging |
Het |
| Zwint |
T |
A |
10: 72,491,788 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Vmn2r95
|
APN |
17 |
18,672,590 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01479:Vmn2r95
|
APN |
17 |
18,664,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01890:Vmn2r95
|
APN |
17 |
18,671,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Vmn2r95
|
APN |
17 |
18,660,473 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02113:Vmn2r95
|
APN |
17 |
18,660,169 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02154:Vmn2r95
|
APN |
17 |
18,672,248 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02190:Vmn2r95
|
APN |
17 |
18,672,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02412:Vmn2r95
|
APN |
17 |
18,660,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Vmn2r95
|
APN |
17 |
18,671,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02679:Vmn2r95
|
APN |
17 |
18,664,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Vmn2r95
|
APN |
17 |
18,672,120 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02990:Vmn2r95
|
APN |
17 |
18,672,298 (GRCm39) |
nonsense |
probably null |
|
|
IGL03032:Vmn2r95
|
APN |
17 |
18,672,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0416:Vmn2r95
|
UTSW |
17 |
18,661,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Vmn2r95
|
UTSW |
17 |
18,672,005 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0514:Vmn2r95
|
UTSW |
17 |
18,671,844 (GRCm39) |
missense |
probably benign |
|
|
R0519:Vmn2r95
|
UTSW |
17 |
18,659,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Vmn2r95
|
UTSW |
17 |
18,672,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Vmn2r95
|
UTSW |
17 |
18,660,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:Vmn2r95
|
UTSW |
17 |
18,672,575 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1613:Vmn2r95
|
UTSW |
17 |
18,660,901 (GRCm39) |
splice site |
probably benign |
|
|
R1861:Vmn2r95
|
UTSW |
17 |
18,672,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Vmn2r95
|
UTSW |
17 |
18,644,575 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1986:Vmn2r95
|
UTSW |
17 |
18,671,805 (GRCm39) |
missense |
probably benign |
|
|
R2031:Vmn2r95
|
UTSW |
17 |
18,659,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2040:Vmn2r95
|
UTSW |
17 |
18,661,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Vmn2r95
|
UTSW |
17 |
18,660,235 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3727:Vmn2r95
|
UTSW |
17 |
18,661,744 (GRCm39) |
nonsense |
probably null |
|
|
R3953:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3955:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3957:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4474:Vmn2r95
|
UTSW |
17 |
18,672,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Vmn2r95
|
UTSW |
17 |
18,672,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Vmn2r95
|
UTSW |
17 |
18,671,708 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5178:Vmn2r95
|
UTSW |
17 |
18,660,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5980:Vmn2r95
|
UTSW |
17 |
18,661,624 (GRCm39) |
missense |
probably benign |
|
|
R6183:Vmn2r95
|
UTSW |
17 |
18,664,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6276:Vmn2r95
|
UTSW |
17 |
18,671,732 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6651:Vmn2r95
|
UTSW |
17 |
18,660,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6682:Vmn2r95
|
UTSW |
17 |
18,660,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Vmn2r95
|
UTSW |
17 |
18,672,551 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6799:Vmn2r95
|
UTSW |
17 |
18,659,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Vmn2r95
|
UTSW |
17 |
18,664,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Vmn2r95
|
UTSW |
17 |
18,664,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Vmn2r95
|
UTSW |
17 |
18,672,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Vmn2r95
|
UTSW |
17 |
18,661,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7226:Vmn2r95
|
UTSW |
17 |
18,672,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7240:Vmn2r95
|
UTSW |
17 |
18,672,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7383:Vmn2r95
|
UTSW |
17 |
18,660,734 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7614:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
|
R7755:Vmn2r95
|
UTSW |
17 |
18,644,367 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7942:Vmn2r95
|
UTSW |
17 |
18,660,529 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8355:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
|
R8455:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
|
R8478:Vmn2r95
|
UTSW |
17 |
18,672,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8547:Vmn2r95
|
UTSW |
17 |
18,664,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r95
|
UTSW |
17 |
18,661,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8788:Vmn2r95
|
UTSW |
17 |
18,671,790 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8852:Vmn2r95
|
UTSW |
17 |
18,664,113 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9098:Vmn2r95
|
UTSW |
17 |
18,660,167 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9202:Vmn2r95
|
UTSW |
17 |
18,644,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9244:Vmn2r95
|
UTSW |
17 |
18,672,189 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9546:Vmn2r95
|
UTSW |
17 |
18,661,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9665:Vmn2r95
|
UTSW |
17 |
18,660,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r95
|
UTSW |
17 |
18,660,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTGTGTGAAGTGTCCAG -3'
(R):5'- TCTCCCTGGAAAACTGACCTTAAAG -3'
Sequencing Primer
(F):5'- AGTGTCCAGAGAGTCATTATGC -3'
(R):5'- TGACCTTAAAGGCAAGGACC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation