Incidental Mutation 'R6017:Vmn2r105'
ID |
478673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r105
|
Ensembl Gene |
ENSMUSG00000091670 |
Gene Name |
vomeronasal 2, receptor 105 |
Synonyms |
EG627743 |
MMRRC Submission |
044191-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6017 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20428492-20455134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20428889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 729
(H729L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167382]
|
AlphaFold |
E9Q3A5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167382
AA Change: H729L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129762 Gene: ENSMUSG00000091670 AA Change: H729L
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
85 |
469 |
6.5e-42 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
3.2e-21 |
PFAM |
Pfam:7tm_3
|
598 |
833 |
2.5e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
Validation Efficiency |
97% (62/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,325,780 (GRCm39) |
I56M |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,545,542 (GRCm39) |
L5581* |
probably null |
Het |
Arpc2 |
C |
A |
1: 74,301,645 (GRCm39) |
H193N |
probably benign |
Het |
B3galt5 |
A |
G |
16: 96,116,384 (GRCm39) |
T6A |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,976,103 (GRCm39) |
V1737E |
probably benign |
Het |
Cacfd1 |
T |
G |
2: 26,903,440 (GRCm39) |
|
probably benign |
Het |
Cdc42ep4 |
A |
T |
11: 113,620,192 (GRCm39) |
D66E |
probably benign |
Het |
Cldn1 |
G |
T |
16: 26,181,969 (GRCm39) |
T80N |
probably damaging |
Het |
Cmtm1 |
C |
A |
8: 105,037,583 (GRCm39) |
|
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,411,693 (GRCm39) |
I526F |
probably benign |
Het |
Copb1 |
T |
C |
7: 113,836,032 (GRCm39) |
K450E |
probably benign |
Het |
Crebrf |
A |
C |
17: 26,976,823 (GRCm39) |
I416L |
probably benign |
Het |
Csmd3 |
C |
A |
15: 48,177,408 (GRCm39) |
V377F |
possibly damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,588,313 (GRCm39) |
K304E |
probably damaging |
Het |
Cyp2d26 |
A |
G |
15: 82,674,774 (GRCm39) |
S403P |
possibly damaging |
Het |
Cyp4a12a |
T |
A |
4: 115,183,476 (GRCm39) |
C198* |
probably null |
Het |
Ddx11 |
A |
G |
17: 66,437,012 (GRCm39) |
D102G |
|
Het |
Dpys |
T |
A |
15: 39,710,114 (GRCm39) |
Q105L |
probably null |
Het |
Dsn1 |
C |
A |
2: 156,838,162 (GRCm39) |
R334L |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,659,054 (GRCm39) |
H867N |
probably damaging |
Het |
Ephb3 |
T |
C |
16: 21,040,781 (GRCm39) |
L643P |
probably damaging |
Het |
Fbxo44 |
G |
T |
4: 148,243,010 (GRCm39) |
H83Q |
probably benign |
Het |
Gm13102 |
T |
C |
4: 143,835,807 (GRCm39) |
Y477H |
possibly damaging |
Het |
Gm7347 |
T |
C |
5: 26,262,276 (GRCm39) |
T82A |
probably benign |
Het |
Gss |
C |
A |
2: 155,429,385 (GRCm39) |
A36S |
probably benign |
Het |
Hepacam |
A |
G |
9: 37,292,056 (GRCm39) |
D128G |
probably benign |
Het |
Hepacam2 |
C |
A |
6: 3,483,332 (GRCm39) |
V226F |
probably damaging |
Het |
Hgfac |
T |
C |
5: 35,201,739 (GRCm39) |
Y291H |
probably damaging |
Het |
Ip6k2 |
G |
A |
9: 108,674,466 (GRCm39) |
R88H |
probably benign |
Het |
Irx5 |
T |
A |
8: 93,084,878 (GRCm39) |
Y23N |
probably damaging |
Het |
Kcnf1 |
T |
C |
12: 17,225,082 (GRCm39) |
M380V |
probably damaging |
Het |
Kcnj1 |
A |
T |
9: 32,305,400 (GRCm39) |
|
probably benign |
Het |
Kcnk12 |
T |
C |
17: 88,054,164 (GRCm39) |
E166G |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,391,996 (GRCm39) |
C195R |
probably damaging |
Het |
Kif28 |
T |
A |
1: 179,527,018 (GRCm39) |
I718F |
probably benign |
Het |
Lce1e |
T |
A |
3: 92,615,240 (GRCm39) |
K36* |
probably null |
Het |
Map4 |
T |
C |
9: 109,863,687 (GRCm39) |
L304P |
probably benign |
Het |
Mettl17 |
C |
T |
14: 52,129,074 (GRCm39) |
|
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,160,518 (GRCm39) |
D595G |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,732,349 (GRCm39) |
K1282E |
probably damaging |
Het |
Nf2 |
A |
T |
11: 4,766,137 (GRCm39) |
V131D |
possibly damaging |
Het |
Or7g35 |
T |
C |
9: 19,496,730 (GRCm39) |
V299A |
probably benign |
Het |
Or8b3 |
A |
T |
9: 38,314,916 (GRCm39) |
M249L |
probably benign |
Het |
Oxsr1 |
A |
G |
9: 119,093,843 (GRCm39) |
L270S |
probably benign |
Het |
Plekhg2 |
G |
A |
7: 28,062,309 (GRCm39) |
T536I |
probably damaging |
Het |
Ppp1r9a |
T |
A |
6: 4,906,363 (GRCm39) |
V306D |
probably benign |
Het |
Ptk6 |
C |
T |
2: 180,837,605 (GRCm39) |
C438Y |
probably benign |
Het |
Scfd1 |
T |
C |
12: 51,492,461 (GRCm39) |
V590A |
probably damaging |
Het |
Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
Skor2 |
T |
A |
18: 76,946,622 (GRCm39) |
C115S |
unknown |
Het |
Slc2a7 |
T |
C |
4: 150,249,629 (GRCm39) |
S407P |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,955,683 (GRCm39) |
S452P |
probably damaging |
Het |
Spata31d1c |
A |
G |
13: 65,182,893 (GRCm39) |
D145G |
possibly damaging |
Het |
Spata6 |
C |
A |
4: 111,632,024 (GRCm39) |
T145K |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,863,501 (GRCm39) |
R2087H |
probably benign |
Het |
Stk24 |
C |
T |
14: 121,539,657 (GRCm39) |
V180M |
probably benign |
Het |
Trrap |
A |
G |
5: 144,781,051 (GRCm39) |
T3271A |
probably damaging |
Het |
Tyro3 |
T |
A |
2: 119,647,147 (GRCm39) |
W755R |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,689,711 (GRCm39) |
|
probably null |
Het |
Uts2b |
T |
C |
16: 27,179,793 (GRCm39) |
|
probably null |
Het |
Vps35l |
T |
A |
7: 118,409,144 (GRCm39) |
V635D |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,999,225 (GRCm39) |
I3068V |
probably benign |
Het |
Zfp457 |
G |
A |
13: 67,441,763 (GRCm39) |
H175Y |
probably damaging |
Het |
Zfp758 |
A |
G |
17: 22,592,712 (GRCm39) |
D40G |
probably damaging |
Het |
|
Other mutations in Vmn2r105 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:Vmn2r105
|
APN |
17 |
20,448,817 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01909:Vmn2r105
|
APN |
17 |
20,444,918 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01925:Vmn2r105
|
APN |
17 |
20,428,973 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02021:Vmn2r105
|
APN |
17 |
20,448,157 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02828:Vmn2r105
|
APN |
17 |
20,429,345 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02838:Vmn2r105
|
APN |
17 |
20,447,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03343:Vmn2r105
|
APN |
17 |
20,446,631 (GRCm39) |
nonsense |
probably null |
|
R0096:Vmn2r105
|
UTSW |
17 |
20,447,741 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0096:Vmn2r105
|
UTSW |
17 |
20,447,741 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0212:Vmn2r105
|
UTSW |
17 |
20,428,827 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0268:Vmn2r105
|
UTSW |
17 |
20,428,938 (GRCm39) |
missense |
probably benign |
0.18 |
R0271:Vmn2r105
|
UTSW |
17 |
20,454,965 (GRCm39) |
missense |
probably damaging |
0.96 |
R0613:Vmn2r105
|
UTSW |
17 |
20,428,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R0765:Vmn2r105
|
UTSW |
17 |
20,448,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R0765:Vmn2r105
|
UTSW |
17 |
20,447,973 (GRCm39) |
missense |
probably benign |
0.20 |
R1162:Vmn2r105
|
UTSW |
17 |
20,447,973 (GRCm39) |
missense |
probably benign |
0.20 |
R1263:Vmn2r105
|
UTSW |
17 |
20,428,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R1363:Vmn2r105
|
UTSW |
17 |
20,428,932 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Vmn2r105
|
UTSW |
17 |
20,449,004 (GRCm39) |
splice site |
probably benign |
|
R2029:Vmn2r105
|
UTSW |
17 |
20,444,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R2420:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
R2421:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
R2422:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
R2570:Vmn2r105
|
UTSW |
17 |
20,447,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Vmn2r105
|
UTSW |
17 |
20,428,952 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3848:Vmn2r105
|
UTSW |
17 |
20,428,952 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4030:Vmn2r105
|
UTSW |
17 |
20,429,016 (GRCm39) |
missense |
probably damaging |
0.99 |
R4275:Vmn2r105
|
UTSW |
17 |
20,448,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R4551:Vmn2r105
|
UTSW |
17 |
20,446,613 (GRCm39) |
missense |
probably benign |
|
R4801:Vmn2r105
|
UTSW |
17 |
20,447,556 (GRCm39) |
missense |
probably benign |
0.00 |
R4802:Vmn2r105
|
UTSW |
17 |
20,447,556 (GRCm39) |
missense |
probably benign |
0.00 |
R4816:Vmn2r105
|
UTSW |
17 |
20,428,953 (GRCm39) |
missense |
probably benign |
0.27 |
R4929:Vmn2r105
|
UTSW |
17 |
20,448,280 (GRCm39) |
missense |
probably benign |
0.44 |
R5022:Vmn2r105
|
UTSW |
17 |
20,428,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R5475:Vmn2r105
|
UTSW |
17 |
20,455,044 (GRCm39) |
missense |
probably benign |
|
R5576:Vmn2r105
|
UTSW |
17 |
20,444,836 (GRCm39) |
critical splice donor site |
probably null |
|
R5795:Vmn2r105
|
UTSW |
17 |
20,448,998 (GRCm39) |
missense |
probably benign |
0.00 |
R5895:Vmn2r105
|
UTSW |
17 |
20,448,929 (GRCm39) |
missense |
probably benign |
0.10 |
R6210:Vmn2r105
|
UTSW |
17 |
20,448,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R6491:Vmn2r105
|
UTSW |
17 |
20,447,992 (GRCm39) |
nonsense |
probably null |
|
R6542:Vmn2r105
|
UTSW |
17 |
20,448,803 (GRCm39) |
missense |
probably benign |
0.03 |
R6729:Vmn2r105
|
UTSW |
17 |
20,428,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R7020:Vmn2r105
|
UTSW |
17 |
20,429,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Vmn2r105
|
UTSW |
17 |
20,428,874 (GRCm39) |
missense |
probably damaging |
0.97 |
R7488:Vmn2r105
|
UTSW |
17 |
20,429,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Vmn2r105
|
UTSW |
17 |
20,448,827 (GRCm39) |
missense |
probably benign |
0.02 |
R7555:Vmn2r105
|
UTSW |
17 |
20,447,937 (GRCm39) |
missense |
probably damaging |
0.98 |
R7863:Vmn2r105
|
UTSW |
17 |
20,428,937 (GRCm39) |
missense |
probably benign |
0.18 |
R8137:Vmn2r105
|
UTSW |
17 |
20,454,966 (GRCm39) |
missense |
probably benign |
0.02 |
R8166:Vmn2r105
|
UTSW |
17 |
20,428,904 (GRCm39) |
missense |
probably benign |
0.07 |
R8186:Vmn2r105
|
UTSW |
17 |
20,444,880 (GRCm39) |
nonsense |
probably null |
|
R8214:Vmn2r105
|
UTSW |
17 |
20,448,775 (GRCm39) |
missense |
probably benign |
0.02 |
R8497:Vmn2r105
|
UTSW |
17 |
20,455,134 (GRCm39) |
start codon destroyed |
probably null |
0.75 |
R8850:Vmn2r105
|
UTSW |
17 |
20,428,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:Vmn2r105
|
UTSW |
17 |
20,429,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R9272:Vmn2r105
|
UTSW |
17 |
20,447,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R9506:Vmn2r105
|
UTSW |
17 |
20,429,404 (GRCm39) |
missense |
probably benign |
0.00 |
R9549:Vmn2r105
|
UTSW |
17 |
20,448,023 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACACCAGCAAGCTGAATG -3'
(R):5'- CCTGCAGCAGACCACATTTG -3'
Sequencing Primer
(F):5'- TGACAGAAATTTGGATTCATTGAATG -3'
(R):5'- CACTGTGTTGGCCAAAGCTATTACTG -3'
|
Posted On |
2017-06-26 |