Incidental Mutation 'R7755:Vmn2r88'
| ID |
628361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r3, V2r13 |
| MMRRC Submission |
045811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7755 (G1)
|
| Quality Score |
42.0073 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51410819-51419527 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 51413046 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 72
(A72G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: A72G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: A72G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: A72G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163019
AA Change: A47G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: A47G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: A72G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,189,413 (GRCm38) |
M1179I |
probably benign |
Het |
| 4930402F06Rik |
T |
C |
2: 35,376,337 (GRCm38) |
Y107C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,398,379 (GRCm38) |
S452P |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,794,558 (GRCm38) |
D615G |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,052,876 (GRCm38) |
L215P |
probably benign |
Het |
| Carf |
T |
A |
1: 60,148,055 (GRCm38) |
S606T |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,461,684 (GRCm38) |
T522S |
probably benign |
Het |
| Ctsll3 |
A |
T |
13: 60,800,405 (GRCm38) |
F153I |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,280,078 (GRCm38) |
T3509I |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,691,933 (GRCm38) |
S377P |
probably benign |
Het |
| Dnmbp |
G |
A |
19: 43,850,086 (GRCm38) |
A659V |
probably benign |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,178,361 (GRCm38) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,015,490 (GRCm38) |
D3598G |
probably benign |
Het |
| Fam35a |
T |
C |
14: 34,248,890 (GRCm38) |
K627E |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 78,049,513 (GRCm38) |
F29L |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,802,220 (GRCm38) |
I367K |
possibly damaging |
Het |
| Ikbkap |
T |
C |
4: 56,774,552 (GRCm38) |
N779S |
possibly damaging |
Het |
| Ivl |
T |
A |
3: 92,572,010 (GRCm38) |
K249N |
probably damaging |
Het |
| Kdelc1 |
T |
C |
1: 44,118,573 (GRCm38) |
|
probably benign |
Het |
| Khnyn |
A |
G |
14: 55,887,968 (GRCm38) |
T503A |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,844,585 (GRCm38) |
I490F |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,229,556 (GRCm38) |
T690A |
probably benign |
Het |
| Mmp1a |
T |
A |
9: 7,467,004 (GRCm38) |
D227E |
possibly damaging |
Het |
| Mrgprf |
T |
C |
7: 145,308,643 (GRCm38) |
L314P |
probably damaging |
Het |
| Ndufb9 |
T |
G |
15: 58,936,406 (GRCm38) |
Y80* |
probably null |
Het |
| Neto2 |
C |
T |
8: 85,669,656 (GRCm38) |
R155H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,559,170 (GRCm38) |
N365K |
possibly damaging |
Het |
| Nsl1 |
G |
A |
1: 191,063,183 (GRCm38) |
V49M |
probably benign |
Het |
| Nudt21 |
T |
A |
8: 94,022,865 (GRCm38) |
Y191F |
probably benign |
Het |
| Olfr225 |
A |
G |
11: 59,613,641 (GRCm38) |
R226G |
probably damaging |
Het |
| Olfr921 |
T |
G |
9: 38,775,777 (GRCm38) |
I174S |
possibly damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,754,829 (GRCm38) |
Y679C |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 109,630,166 (GRCm38) |
D741G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,547,493 (GRCm38) |
D956G |
probably damaging |
Het |
| Pparg |
C |
T |
6: 115,463,106 (GRCm38) |
P214S |
probably damaging |
Het |
| Ppargc1a |
T |
A |
5: 51,473,541 (GRCm38) |
Y582F |
unknown |
Het |
| Prdm9 |
C |
T |
17: 15,544,964 (GRCm38) |
C518Y |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,973,714 (GRCm38) |
E2V |
probably damaging |
Het |
| Rpl19 |
T |
C |
11: 98,028,367 (GRCm38) |
I45T |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,872,463 (GRCm38) |
D255G |
possibly damaging |
Het |
| Sirt3 |
T |
C |
7: 140,878,050 (GRCm38) |
D62G |
|
Het |
| Slc22a30 |
T |
C |
19: 8,336,769 (GRCm38) |
T518A |
probably damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,911,306 (GRCm38) |
T329A |
probably damaging |
Het |
| Slc6a17 |
C |
T |
3: 107,474,355 (GRCm38) |
G470D |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,997,407 (GRCm38) |
I3923L |
probably benign |
Het |
| Tiam2 |
C |
T |
17: 3,421,316 (GRCm38) |
S411L |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,270,182 (GRCm38) |
C638R |
unknown |
Het |
| Tnrc6c |
A |
G |
11: 117,758,086 (GRCm38) |
T1528A |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,262,274 (GRCm38) |
I404T |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,891,468 (GRCm38) |
S375T |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,110,049 (GRCm38) |
I532F |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,424,105 (GRCm38) |
M1T |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,515,182 (GRCm38) |
V2589A |
probably benign |
Het |
| Zfp128 |
C |
T |
7: 12,890,313 (GRCm38) |
Q203* |
probably null |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,256 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,125 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,417,980 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,418,373 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,414,140 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,414,502 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,418,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,418,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,416,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,413,030 (GRCm38) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,418,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,418,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,413,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,413,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,414,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,418,689 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,413,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,418,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,413,978 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,413,190 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,415,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,413,289 (GRCm38) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,417,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,418,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,418,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,418,793 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,418,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,413,334 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,413,339 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,413,245 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,413,181 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,411,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,413,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,418,149 (GRCm38) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,415,369 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,414,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,413,969 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,418,643 (GRCm38) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,413,796 (GRCm38) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,418,319 (GRCm38) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,414,255 (GRCm38) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,410,858 (GRCm38) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,413,997 (GRCm38) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,417,989 (GRCm38) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,418,449 (GRCm38) |
missense |
|
|
|
R7811:Vmn2r88
|
UTSW |
14 |
51,418,703 (GRCm38) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,413,132 (GRCm38) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,414,107 (GRCm38) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,413,073 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,414,066 (GRCm38) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,418,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,411,136 (GRCm38) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,418,526 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,413,167 (GRCm38) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,414,033 (GRCm38) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,410,872 (GRCm38) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,418,740 (GRCm38) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,411,184 (GRCm38) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,413,732 (GRCm38) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,413,127 (GRCm38) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,413,832 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,187 (GRCm38) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,046 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,413,201 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCTCAGACAACACTTAAAGGAC -3'
(R):5'- GTCCTGTAAGACCTATGGCAC -3'
Sequencing Primer
(F):5'- ACTTGATATGTACAAGACCCTAAAGG -3'
(R):5'- TGGCACATGAATCATCTAAATAACAG -3'
|
| Posted On |
2020-03-11 |
Incidental Mutation