Incidental Mutation 'IGL02540:Vmn1r172'
| ID |
297664 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r172
|
| Ensembl Gene |
ENSMUSG00000035523 |
| Gene Name |
vomeronasal 1 receptor 172 |
| Synonyms |
V3R9, V1rd9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL02540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23357741-23360088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23359350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 78
(F78L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038694]
[ENSMUST00000173101]
|
| AlphaFold |
Q9EPS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038694
AA Change: F78L
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041653
Gene: ENSMUSG00000035523
AA Change: F78L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
301 |
7.1e-9 |
PFAM |
|
Pfam:7tm_1
|
30 |
268 |
3.6e-9 |
PFAM |
|
Pfam:V1R
|
43 |
301 |
7.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173101
AA Change: F78L
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133887
Gene: ENSMUSG00000035523
AA Change: F78L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
301 |
7.2e-9 |
PFAM |
|
Pfam:V1R
|
43 |
301 |
7.2e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor2 |
C |
A |
6: 119,336,456 (GRCm39) |
R169L |
probably benign |
Het |
| Arhgap1 |
C |
T |
2: 91,500,584 (GRCm39) |
T371I |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,047,328 (GRCm39) |
P1031S |
probably damaging |
Het |
| Cenpu |
A |
G |
8: 47,031,354 (GRCm39) |
H245R |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,414,309 (GRCm39) |
S18P |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,285 (GRCm39) |
T217A |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,805,534 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,731 (GRCm39) |
|
probably null |
Het |
| Fez1 |
A |
G |
9: 36,761,695 (GRCm39) |
R122G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,081,001 (GRCm39) |
M1417K |
probably damaging |
Het |
| Higd1c |
T |
C |
15: 100,263,247 (GRCm39) |
|
probably benign |
Het |
| Icosl |
G |
A |
10: 77,905,370 (GRCm39) |
|
probably null |
Het |
| Il24 |
T |
C |
1: 130,815,040 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,038,161 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,050,880 (GRCm39) |
L624P |
probably benign |
Het |
| Mov10l1 |
C |
A |
15: 88,902,414 (GRCm39) |
T768K |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,386 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,269,259 (GRCm39) |
M81T |
probably benign |
Het |
| Or5aq7 |
A |
T |
2: 86,938,386 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,515,465 (GRCm39) |
F649I |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,083,309 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,550,706 (GRCm39) |
S86L |
probably damaging |
Het |
| Rai1 |
G |
A |
11: 60,077,750 (GRCm39) |
A605T |
probably benign |
Het |
| Reln |
T |
A |
5: 22,239,750 (GRCm39) |
Q839L |
probably damaging |
Het |
| Rrp9 |
T |
C |
9: 106,360,746 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,200 (GRCm39) |
C178S |
probably benign |
Het |
| Zfpm1 |
A |
G |
8: 123,058,859 (GRCm39) |
S160G |
possibly damaging |
Het |
|
| Other mutations in Vmn1r172 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02295:Vmn1r172
|
APN |
7 |
23,359,342 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02407:Vmn1r172
|
APN |
7 |
23,359,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Vmn1r172
|
APN |
7 |
23,359,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0396:Vmn1r172
|
UTSW |
7 |
23,359,957 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1087:Vmn1r172
|
UTSW |
7 |
23,359,673 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1502:Vmn1r172
|
UTSW |
7 |
23,359,681 (GRCm39) |
nonsense |
probably null |
|
|
R1701:Vmn1r172
|
UTSW |
7 |
23,359,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Vmn1r172
|
UTSW |
7 |
23,359,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Vmn1r172
|
UTSW |
7 |
23,359,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4646:Vmn1r172
|
UTSW |
7 |
23,359,919 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4653:Vmn1r172
|
UTSW |
7 |
23,359,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4709:Vmn1r172
|
UTSW |
7 |
23,359,606 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4937:Vmn1r172
|
UTSW |
7 |
23,359,312 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4945:Vmn1r172
|
UTSW |
7 |
23,359,745 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5840:Vmn1r172
|
UTSW |
7 |
23,359,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6154:Vmn1r172
|
UTSW |
7 |
23,359,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6317:Vmn1r172
|
UTSW |
7 |
23,359,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Vmn1r172
|
UTSW |
7 |
23,359,582 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7290:Vmn1r172
|
UTSW |
7 |
23,360,048 (GRCm39) |
missense |
unknown |
|
|
R7362:Vmn1r172
|
UTSW |
7 |
23,359,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Vmn1r172
|
UTSW |
7 |
23,360,030 (GRCm39) |
missense |
unknown |
|
|
R7528:Vmn1r172
|
UTSW |
7 |
23,359,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7946:Vmn1r172
|
UTSW |
7 |
23,358,857 (GRCm39) |
splice site |
probably null |
|
|
R8193:Vmn1r172
|
UTSW |
7 |
23,359,752 (GRCm39) |
nonsense |
probably null |
|
|
R8540:Vmn1r172
|
UTSW |
7 |
23,359,498 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8863:Vmn1r172
|
UTSW |
7 |
23,359,210 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8974:Vmn1r172
|
UTSW |
7 |
23,359,840 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9006:Vmn1r172
|
UTSW |
7 |
23,359,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9021:Vmn1r172
|
UTSW |
7 |
23,359,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9246:Vmn1r172
|
UTSW |
7 |
23,359,593 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9604:Vmn1r172
|
UTSW |
7 |
23,359,193 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
U24488:Vmn1r172
|
UTSW |
7 |
23,359,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation