Incidental Mutation 'IGL01751:Vmn1r195'
| ID |
278826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r195
|
| Ensembl Gene |
ENSMUSG00000069296 |
| Gene Name |
vomeronasal 1 receptor 195 |
| Synonyms |
V1ri6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
22462487-22463574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 22463421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 297
(C297F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091736]
[ENSMUST00000228711]
|
| AlphaFold |
Q5SVD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091736
AA Change: C297F
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089330
Gene: ENSMUSG00000069296
AA Change: C297F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
34 |
300 |
5.6e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228711
AA Change: C297F
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,979,981 (GRCm39) |
|
probably null |
Het |
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,522 (GRCm39) |
H174L |
possibly damaging |
Het |
| Auts2 |
G |
T |
5: 131,501,198 (GRCm39) |
Q72K |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,049 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,342,372 (GRCm39) |
E1555G |
probably benign |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
A |
G |
1: 16,840,208 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6605 |
T |
C |
7: 38,147,630 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,516 (GRCm39) |
N576I |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,065,130 (GRCm39) |
D638G |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,039,014 (GRCm39) |
N887I |
probably damaging |
Het |
| Itpkc |
G |
A |
7: 26,912,491 (GRCm39) |
|
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,786,403 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
T |
11: 105,216,560 (GRCm39) |
L116F |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,978,171 (GRCm39) |
D226G |
probably damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,811 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or14c39 |
A |
T |
7: 86,343,997 (GRCm39) |
Q111L |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,977 (GRCm39) |
C139S |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Scn3a |
T |
A |
2: 65,291,596 (GRCm39) |
M1717L |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,719,812 (GRCm39) |
D903G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,825,025 (GRCm39) |
N68I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,567,943 (GRCm39) |
V25904A |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,139 (GRCm39) |
V507M |
probably damaging |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
|
| Other mutations in Vmn1r195 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01752:Vmn1r195
|
APN |
13 |
22,463,421 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01780:Vmn1r195
|
APN |
13 |
22,463,255 (GRCm39) |
missense |
probably benign |
0.34 |
|
PIT4812001:Vmn1r195
|
UTSW |
13 |
22,463,033 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0066:Vmn1r195
|
UTSW |
13 |
22,463,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0066:Vmn1r195
|
UTSW |
13 |
22,463,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0350:Vmn1r195
|
UTSW |
13 |
22,463,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Vmn1r195
|
UTSW |
13 |
22,463,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Vmn1r195
|
UTSW |
13 |
22,463,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Vmn1r195
|
UTSW |
13 |
22,463,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Vmn1r195
|
UTSW |
13 |
22,463,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1464:Vmn1r195
|
UTSW |
13 |
22,463,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1999:Vmn1r195
|
UTSW |
13 |
22,462,934 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2150:Vmn1r195
|
UTSW |
13 |
22,462,934 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4924:Vmn1r195
|
UTSW |
13 |
22,463,189 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5190:Vmn1r195
|
UTSW |
13 |
22,462,556 (GRCm39) |
nonsense |
probably null |
|
|
R5522:Vmn1r195
|
UTSW |
13 |
22,463,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Vmn1r195
|
UTSW |
13 |
22,462,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6509:Vmn1r195
|
UTSW |
13 |
22,463,279 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7288:Vmn1r195
|
UTSW |
13 |
22,463,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Vmn1r195
|
UTSW |
13 |
22,462,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Vmn1r195
|
UTSW |
13 |
22,463,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7810:Vmn1r195
|
UTSW |
13 |
22,463,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8704:Vmn1r195
|
UTSW |
13 |
22,463,058 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8916:Vmn1r195
|
UTSW |
13 |
22,463,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Vmn1r195
|
UTSW |
13 |
22,463,335 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9255:Vmn1r195
|
UTSW |
13 |
22,463,342 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9390:Vmn1r195
|
UTSW |
13 |
22,462,535 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9802:Vmn1r195
|
UTSW |
13 |
22,463,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation