Incidental Mutation 'R8916:Vmn2r88'
| ID |
678957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r13, V2r3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R8916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51648593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 46
(C46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022438
AA Change: C46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: C46S
| 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: C46S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: C21S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228139
AA Change: C46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
G |
13: 70,941,307 (GRCm39) |
L360S |
probably damaging |
Het |
| AW554918 |
T |
C |
18: 25,423,049 (GRCm39) |
Y167H |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,410,813 (GRCm39) |
I433F |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,790,352 (GRCm39) |
F566I |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,652,915 (GRCm39) |
Y795N |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,501,667 (GRCm39) |
G362E |
unknown |
Het |
| Crebrf |
A |
G |
17: 26,958,583 (GRCm39) |
T18A |
probably damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,056,254 (GRCm39) |
V529I |
probably benign |
Het |
| Dars2 |
T |
C |
1: 160,881,552 (GRCm39) |
T326A |
probably benign |
Het |
| Eif4e |
T |
C |
3: 138,256,043 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,722 (GRCm39) |
M413V |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,245,149 (GRCm39) |
D246G |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,837,514 (GRCm39) |
S241P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,900,774 (GRCm39) |
F2998L |
probably damaging |
Het |
| Garin4 |
A |
G |
1: 190,895,857 (GRCm39) |
I262T |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,901,599 (GRCm39) |
T192A |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
T |
9: 44,209,673 (GRCm39) |
F234I |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,649,530 (GRCm39) |
I652N |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,963 (GRCm39) |
K771E |
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,061,170 (GRCm39) |
|
probably null |
Het |
| Lnpk |
A |
T |
2: 74,358,486 (GRCm39) |
S358T |
probably benign |
Het |
| Lpcat2 |
A |
T |
8: 93,596,316 (GRCm39) |
M118L |
probably benign |
Het |
| Lypd1 |
T |
A |
1: 125,801,120 (GRCm39) |
T127S |
unknown |
Het |
| Mettl23 |
C |
T |
11: 116,740,111 (GRCm39) |
T194I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,788,819 (GRCm39) |
V2227A |
possibly damaging |
Het |
| Mus81 |
A |
T |
19: 5,534,214 (GRCm39) |
V368E |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,457,704 (GRCm39) |
F1046I |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,888,667 (GRCm39) |
V222I |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,811,106 (GRCm39) |
M372K |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,991,101 (GRCm39) |
E586G |
probably benign |
Het |
| Nr2e1 |
G |
A |
10: 42,443,864 (GRCm39) |
A286V |
possibly damaging |
Het |
| Nup153 |
G |
A |
13: 46,863,462 (GRCm39) |
Q300* |
probably null |
Het |
| Plaat1 |
A |
G |
16: 29,039,259 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,234 (GRCm39) |
L202P |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,010,103 (GRCm39) |
H77L |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,063,495 (GRCm39) |
F183L |
probably benign |
Het |
| Rint1 |
G |
T |
5: 23,992,826 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,608,635 (GRCm39) |
R2335L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,108,127 (GRCm39) |
D1544G |
probably damaging |
Het |
| Sec31b |
A |
C |
19: 44,520,783 (GRCm39) |
S175A |
|
Het |
| Sgcg |
A |
G |
14: 61,474,341 (GRCm39) |
S101P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,489,154 (GRCm39) |
S241T |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,193,118 (GRCm39) |
L545Q |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,973,034 (GRCm39) |
P789H |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,725,266 (GRCm39) |
E164* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,255,108 (GRCm39) |
N880K |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,899,931 (GRCm39) |
V894A |
probably benign |
Het |
| Tgfa |
T |
G |
6: 86,248,436 (GRCm39) |
L146R |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
| Tlr4 |
G |
A |
4: 66,847,268 (GRCm39) |
V132I |
probably benign |
Het |
| Tsen34 |
C |
T |
7: 3,697,340 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
T |
G |
8: 125,409,976 (GRCm39) |
K412T |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,139 (GRCm39) |
Y203C |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,665 (GRCm39) |
T340S |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,931,830 (GRCm39) |
D443E |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,796 (GRCm39) |
R754G |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,664,351 (GRCm39) |
E478V |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,136 (GRCm39) |
Y590* |
probably null |
Het |
| Zfp9 |
A |
T |
6: 118,442,223 (GRCm39) |
C146* |
probably null |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,655,437 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,655,830 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,651,597 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,651,959 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,655,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,656,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,654,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,650,487 (GRCm39) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,655,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,655,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,650,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,651,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,651,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,656,146 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,651,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,656,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,651,435 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,650,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,652,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,650,746 (GRCm39) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,655,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,655,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,655,531 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,656,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,655,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,650,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,650,796 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,650,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,650,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,648,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,651,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,655,606 (GRCm39) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,652,826 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,651,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,651,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,656,100 (GRCm39) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,651,253 (GRCm39) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,655,776 (GRCm39) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,651,712 (GRCm39) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,648,315 (GRCm39) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,651,454 (GRCm39) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,655,446 (GRCm39) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,655,906 (GRCm39) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,656,160 (GRCm39) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,650,589 (GRCm39) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,651,564 (GRCm39) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,650,530 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,651,523 (GRCm39) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,656,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8936:Vmn2r88
|
UTSW |
14 |
51,655,983 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,650,624 (GRCm39) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,651,490 (GRCm39) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,648,329 (GRCm39) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,656,197 (GRCm39) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,648,641 (GRCm39) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,651,189 (GRCm39) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,650,584 (GRCm39) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,651,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,644 (GRCm39) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,503 (GRCm39) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,650,658 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCCAGACAGCAGTAGCC -3'
(R):5'- CCAGGGGTTCTTAAAGTTACATTG -3'
Sequencing Primer
(F):5'- GTAGCCTTAAAACAGACACATAGG -3'
(R):5'- CATTGTGAGAAAGAGAACAGAACCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation