Incidental Mutation 'IGL02958:Vmn1r43'
ID |
365205 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn1r43
|
Ensembl Gene |
ENSMUSG00000068231 |
Gene Name |
vomeronasal 1 receptor 43 |
Synonyms |
V1ra5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL02958
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
89846443-89847511 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89847031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 152
(I152V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089418]
[ENSMUST00000226741]
[ENSMUST00000226983]
[ENSMUST00000227279]
[ENSMUST00000228709]
|
AlphaFold |
Q8VIC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089418
AA Change: I152V
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000086839 Gene: ENSMUSG00000068231 AA Change: I152V
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
54 |
318 |
2.9e-126 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226240
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226741
AA Change: I152V
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226983
AA Change: I152V
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227279
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228709
AA Change: I152V
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
T |
17: 45,829,098 (GRCm39) |
V755L |
probably benign |
Het |
Abhd15 |
T |
C |
11: 77,406,791 (GRCm39) |
V256A |
possibly damaging |
Het |
Agtr1b |
A |
T |
3: 20,370,258 (GRCm39) |
V116E |
possibly damaging |
Het |
Ahi1 |
A |
T |
10: 20,839,698 (GRCm39) |
D203V |
probably damaging |
Het |
Aplp2 |
G |
T |
9: 31,075,972 (GRCm39) |
|
probably benign |
Het |
Arid4a |
T |
C |
12: 71,144,337 (GRCm39) |
S1249P |
probably benign |
Het |
Asz1 |
T |
A |
6: 18,073,813 (GRCm39) |
K298M |
possibly damaging |
Het |
C4bp |
A |
G |
1: 130,564,532 (GRCm39) |
I384T |
probably damaging |
Het |
Cacna1e |
C |
A |
1: 154,341,487 (GRCm39) |
A1236S |
probably damaging |
Het |
Cdh13 |
T |
C |
8: 120,039,460 (GRCm39) |
I634T |
possibly damaging |
Het |
Cemip |
A |
T |
7: 83,624,263 (GRCm39) |
F524L |
probably damaging |
Het |
Dnah7c |
G |
A |
1: 46,696,271 (GRCm39) |
R2051H |
probably damaging |
Het |
Dnajc17 |
T |
C |
2: 119,016,243 (GRCm39) |
K77E |
probably benign |
Het |
Efhc2 |
C |
T |
X: 17,027,485 (GRCm39) |
|
probably benign |
Het |
Ergic2 |
A |
T |
6: 148,083,441 (GRCm39) |
*50K |
probably null |
Het |
Fam83g |
C |
T |
11: 61,598,548 (GRCm39) |
P812S |
probably damaging |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Itih3 |
T |
C |
14: 30,635,139 (GRCm39) |
T73A |
probably benign |
Het |
Kcnj1 |
A |
G |
9: 32,307,851 (GRCm39) |
S72G |
probably damaging |
Het |
Kcnn4 |
T |
C |
7: 24,074,170 (GRCm39) |
V78A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,192,928 (GRCm39) |
D1353V |
probably damaging |
Het |
Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
Mplkipl1 |
G |
T |
19: 61,164,118 (GRCm39) |
Q106K |
possibly damaging |
Het |
Ndufs8 |
T |
C |
19: 3,961,232 (GRCm39) |
E45G |
probably benign |
Het |
Nell1 |
G |
A |
7: 49,870,085 (GRCm39) |
|
probably null |
Het |
Nxt1 |
A |
G |
2: 148,517,692 (GRCm39) |
|
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,127 (GRCm39) |
Y256C |
probably benign |
Het |
Or5al5 |
T |
A |
2: 85,961,351 (GRCm39) |
I219F |
probably benign |
Het |
Pdzd8 |
A |
T |
19: 59,288,804 (GRCm39) |
C865* |
probably null |
Het |
Pop1 |
G |
T |
15: 34,530,509 (GRCm39) |
C969F |
probably damaging |
Het |
Rc3h2 |
A |
C |
2: 37,304,712 (GRCm39) |
I16S |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,003,897 (GRCm39) |
V1863A |
possibly damaging |
Het |
Slc15a4 |
A |
T |
5: 127,681,729 (GRCm39) |
L296Q |
possibly damaging |
Het |
Spmip1 |
G |
A |
6: 29,471,625 (GRCm39) |
G34R |
probably damaging |
Het |
Ssr4 |
T |
C |
X: 72,830,856 (GRCm39) |
|
probably benign |
Het |
Supt20 |
T |
A |
3: 54,621,144 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
A |
T |
12: 98,930,803 (GRCm39) |
K282N |
probably benign |
Het |
Usp40 |
A |
T |
1: 87,906,207 (GRCm39) |
V676E |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,949,361 (GRCm39) |
I594F |
probably benign |
Het |
Vps53 |
A |
C |
11: 76,008,537 (GRCm39) |
I261S |
probably damaging |
Het |
Wdr19 |
T |
A |
5: 65,370,150 (GRCm39) |
|
probably null |
Het |
Zc3hav1 |
T |
A |
6: 38,309,919 (GRCm39) |
D301V |
probably damaging |
Het |
|
Other mutations in Vmn1r43 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01748:Vmn1r43
|
APN |
6 |
89,847,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02476:Vmn1r43
|
APN |
6 |
89,847,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0413:Vmn1r43
|
UTSW |
6 |
89,846,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R1662:Vmn1r43
|
UTSW |
6 |
89,846,572 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1668:Vmn1r43
|
UTSW |
6 |
89,846,683 (GRCm39) |
missense |
probably benign |
0.01 |
R4419:Vmn1r43
|
UTSW |
6 |
89,846,629 (GRCm39) |
missense |
probably benign |
0.01 |
R4719:Vmn1r43
|
UTSW |
6 |
89,846,837 (GRCm39) |
missense |
probably benign |
0.02 |
R4798:Vmn1r43
|
UTSW |
6 |
89,846,892 (GRCm39) |
missense |
probably benign |
0.01 |
R5520:Vmn1r43
|
UTSW |
6 |
89,846,728 (GRCm39) |
missense |
probably damaging |
0.98 |
R5643:Vmn1r43
|
UTSW |
6 |
89,847,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Vmn1r43
|
UTSW |
6 |
89,847,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Vmn1r43
|
UTSW |
6 |
89,846,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R6647:Vmn1r43
|
UTSW |
6 |
89,846,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R6914:Vmn1r43
|
UTSW |
6 |
89,847,319 (GRCm39) |
missense |
probably benign |
0.02 |
R6942:Vmn1r43
|
UTSW |
6 |
89,847,319 (GRCm39) |
missense |
probably benign |
0.02 |
R7092:Vmn1r43
|
UTSW |
6 |
89,846,885 (GRCm39) |
missense |
probably benign |
0.02 |
R7402:Vmn1r43
|
UTSW |
6 |
89,846,803 (GRCm39) |
missense |
probably benign |
0.02 |
R7457:Vmn1r43
|
UTSW |
6 |
89,847,172 (GRCm39) |
missense |
probably damaging |
0.98 |
R7572:Vmn1r43
|
UTSW |
6 |
89,846,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7807:Vmn1r43
|
UTSW |
6 |
89,847,219 (GRCm39) |
missense |
probably benign |
0.07 |
R8406:Vmn1r43
|
UTSW |
6 |
89,847,414 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8696:Vmn1r43
|
UTSW |
6 |
89,847,321 (GRCm39) |
missense |
probably damaging |
0.99 |
R8859:Vmn1r43
|
UTSW |
6 |
89,846,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R8894:Vmn1r43
|
UTSW |
6 |
89,846,746 (GRCm39) |
missense |
probably benign |
0.02 |
R9072:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9073:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9076:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9237:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9239:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9240:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9293:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9383:Vmn1r43
|
UTSW |
6 |
89,846,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9398:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9399:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9401:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9402:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9594:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9595:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9596:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9624:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9628:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R9656:Vmn1r43
|
UTSW |
6 |
89,847,440 (GRCm39) |
missense |
possibly damaging |
0.47 |
X0020:Vmn1r43
|
UTSW |
6 |
89,847,316 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Vmn1r43
|
UTSW |
6 |
89,847,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-12-18 |