Incidental Mutation 'IGL03064:Vmn2r53'
| ID |
409591 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL03064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12334937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 241
(I241N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118665
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170412
AA Change: I241N
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: I241N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.6e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
3.1e-53 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,174,864 (GRCm39) |
T210A |
probably damaging |
Het |
| Adgb |
T |
A |
10: 10,276,316 (GRCm39) |
T351S |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,755 (GRCm39) |
H1112R |
probably damaging |
Het |
| Angptl6 |
A |
T |
9: 20,786,939 (GRCm39) |
Y261* |
probably null |
Het |
| Arhgef10l |
A |
C |
4: 140,306,590 (GRCm39) |
F395V |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,659,373 (GRCm39) |
N328S |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,039,731 (GRCm39) |
N1186D |
probably damaging |
Het |
| Cacna2d2 |
C |
A |
9: 107,386,474 (GRCm39) |
F200L |
probably damaging |
Het |
| Calca |
G |
A |
7: 114,232,919 (GRCm39) |
S110L |
probably benign |
Het |
| Ccdc120 |
G |
A |
X: 7,601,601 (GRCm39) |
P263S |
probably benign |
Het |
| Dcaf8l |
A |
G |
X: 88,448,857 (GRCm39) |
V424A |
possibly damaging |
Het |
| Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| F5 |
A |
T |
1: 164,023,163 (GRCm39) |
T1574S |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,968,762 (GRCm39) |
|
probably null |
Het |
| Gm20521 |
T |
A |
14: 55,134,680 (GRCm39) |
S301T |
possibly damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,787,287 (GRCm39) |
I239N |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,663,514 (GRCm39) |
E163D |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,086,099 (GRCm39) |
Y1446F |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,572,406 (GRCm39) |
T537M |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,354,636 (GRCm39) |
Y770* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,313,477 (GRCm39) |
V2418E |
probably damaging |
Het |
| Maip1 |
A |
G |
1: 57,446,359 (GRCm39) |
E143G |
probably damaging |
Het |
| Mast4 |
G |
T |
13: 102,897,472 (GRCm39) |
S739* |
probably null |
Het |
| Mctp1 |
C |
T |
13: 76,949,632 (GRCm39) |
Q555* |
probably null |
Het |
| Med14 |
A |
T |
X: 12,613,742 (GRCm39) |
D291E |
probably benign |
Het |
| Mgat2 |
T |
A |
12: 69,231,777 (GRCm39) |
V117D |
probably damaging |
Het |
| Mllt1 |
A |
T |
17: 57,207,094 (GRCm39) |
M250K |
probably benign |
Het |
| Myt1 |
A |
C |
2: 181,439,594 (GRCm39) |
Y372S |
probably benign |
Het |
| Naa16 |
T |
A |
14: 79,577,068 (GRCm39) |
Q735H |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,135,102 (GRCm39) |
Y53C |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,148,934 (GRCm39) |
K180N |
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,746,861 (GRCm39) |
V472A |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,847,315 (GRCm39) |
T705A |
probably benign |
Het |
| Odf2 |
T |
A |
2: 29,791,091 (GRCm39) |
N79K |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,768 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pard3b |
G |
A |
1: 62,237,930 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
G |
A |
13: 95,182,906 (GRCm39) |
T388I |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,264,457 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
T |
C |
11: 77,874,186 (GRCm39) |
S17P |
probably damaging |
Het |
| Psmg2 |
T |
A |
18: 67,779,102 (GRCm39) |
L90* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,658,788 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,423,952 (GRCm39) |
F534L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,483,686 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
A |
T |
13: 100,947,818 (GRCm39) |
L463Q |
probably damaging |
Het |
| Slc35g3 |
T |
C |
11: 69,651,895 (GRCm39) |
H52R |
possibly damaging |
Het |
| Slc6a3 |
G |
T |
13: 73,719,585 (GRCm39) |
S538I |
probably damaging |
Het |
| Socs2 |
G |
T |
10: 95,248,713 (GRCm39) |
C133* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,076,423 (GRCm39) |
R691H |
probably benign |
Het |
| Tlr11 |
C |
A |
14: 50,598,557 (GRCm39) |
P181Q |
probably damaging |
Het |
| Tlr7 |
T |
A |
X: 166,089,203 (GRCm39) |
Q761L |
possibly damaging |
Het |
| Tmem120b |
T |
A |
5: 123,240,336 (GRCm39) |
Y90N |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,675,631 (GRCm39) |
I778V |
possibly damaging |
Het |
| Ttll8 |
T |
C |
15: 88,803,797 (GRCm39) |
T385A |
probably benign |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,153 (GRCm39) |
R249H |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,083,863 (GRCm39) |
R808G |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,308,565 (GRCm39) |
S231C |
probably damaging |
Het |
|
| Other mutations in Vmn2r53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Vmn2r53
|
APN |
7 |
12,334,835 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01997:Vmn2r53
|
APN |
7 |
12,316,373 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02442:Vmn2r53
|
APN |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02449:Vmn2r53
|
APN |
7 |
12,316,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02589:Vmn2r53
|
APN |
7 |
12,315,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02986:Vmn2r53
|
APN |
7 |
12,315,393 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03093:Vmn2r53
|
APN |
7 |
12,334,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03244:Vmn2r53
|
APN |
7 |
12,340,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Vmn2r53
|
APN |
7 |
12,340,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Vmn2r53
|
APN |
7 |
12,315,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03293:Vmn2r53
|
APN |
7 |
12,332,349 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0109:Vmn2r53
|
UTSW |
7 |
12,315,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Vmn2r53
|
UTSW |
7 |
12,316,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Vmn2r53
|
UTSW |
7 |
12,315,707 (GRCm39) |
missense |
probably benign |
|
|
R0881:Vmn2r53
|
UTSW |
7 |
12,334,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0894:Vmn2r53
|
UTSW |
7 |
12,335,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0990:Vmn2r53
|
UTSW |
7 |
12,315,429 (GRCm39) |
missense |
probably benign |
|
|
R1102:Vmn2r53
|
UTSW |
7 |
12,332,410 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1141:Vmn2r53
|
UTSW |
7 |
12,334,673 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1263:Vmn2r53
|
UTSW |
7 |
12,315,533 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1343:Vmn2r53
|
UTSW |
7 |
12,318,701 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1750:Vmn2r53
|
UTSW |
7 |
12,315,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Vmn2r53
|
UTSW |
7 |
12,334,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Vmn2r53
|
UTSW |
7 |
12,332,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2202:Vmn2r53
|
UTSW |
7 |
12,335,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Vmn2r53
|
UTSW |
7 |
12,315,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4372:Vmn2r53
|
UTSW |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4615:Vmn2r53
|
UTSW |
7 |
12,316,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Vmn2r53
|
UTSW |
7 |
12,315,932 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4663:Vmn2r53
|
UTSW |
7 |
12,334,901 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4708:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4710:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4774:Vmn2r53
|
UTSW |
7 |
12,334,692 (GRCm39) |
nonsense |
probably null |
|
|
R4859:Vmn2r53
|
UTSW |
7 |
12,335,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Vmn2r53
|
UTSW |
7 |
12,315,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5561:Vmn2r53
|
UTSW |
7 |
12,335,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Vmn2r53
|
UTSW |
7 |
12,334,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r53
|
UTSW |
7 |
12,316,328 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6083:Vmn2r53
|
UTSW |
7 |
12,315,808 (GRCm39) |
missense |
probably benign |
|
|
R6312:Vmn2r53
|
UTSW |
7 |
12,332,566 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6700:Vmn2r53
|
UTSW |
7 |
12,315,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6783:Vmn2r53
|
UTSW |
7 |
12,335,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Vmn2r53
|
UTSW |
7 |
12,340,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6889:Vmn2r53
|
UTSW |
7 |
12,335,069 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6940:Vmn2r53
|
UTSW |
7 |
12,316,343 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7100:Vmn2r53
|
UTSW |
7 |
12,315,513 (GRCm39) |
nonsense |
probably null |
|
|
R7174:Vmn2r53
|
UTSW |
7 |
12,315,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7213:Vmn2r53
|
UTSW |
7 |
12,334,983 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7276:Vmn2r53
|
UTSW |
7 |
12,340,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7515:Vmn2r53
|
UTSW |
7 |
12,315,846 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7678:Vmn2r53
|
UTSW |
7 |
12,332,425 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7714:Vmn2r53
|
UTSW |
7 |
12,340,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Vmn2r53
|
UTSW |
7 |
12,316,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Vmn2r53
|
UTSW |
7 |
12,335,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8211:Vmn2r53
|
UTSW |
7 |
12,315,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8478:Vmn2r53
|
UTSW |
7 |
12,340,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8853:Vmn2r53
|
UTSW |
7 |
12,315,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Vmn2r53
|
UTSW |
7 |
12,334,752 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8963:Vmn2r53
|
UTSW |
7 |
12,315,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Vmn2r53
|
UTSW |
7 |
12,315,435 (GRCm39) |
missense |
probably benign |
|
|
R9076:Vmn2r53
|
UTSW |
7 |
12,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Vmn2r53
|
UTSW |
7 |
12,335,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Vmn2r53
|
UTSW |
7 |
12,315,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r53
|
UTSW |
7 |
12,335,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation