Incidental Mutation 'R1745:Vmn1r71'
| ID |
193920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r71
|
| Ensembl Gene |
ENSMUSG00000059206 |
| Gene Name |
vomeronasal 1 receptor 71 |
| Synonyms |
V1re13 |
| MMRRC Submission |
039777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R1745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10481429-10483465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10482196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 98
(D98G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079113]
[ENSMUST00000226874]
[ENSMUST00000227003]
[ENSMUST00000227702]
[ENSMUST00000227940]
[ENSMUST00000228098]
[ENSMUST00000228374]
[ENSMUST00000228561]
[ENSMUST00000228526]
[ENSMUST00000228248]
|
| AlphaFold |
Q8VIC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079113
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000078116
Gene: ENSMUSG00000059206
AA Change: D164G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
3 |
304 |
2e-8 |
PFAM |
|
Pfam:7tm_1
|
22 |
289 |
3.1e-6 |
PFAM |
|
Pfam:V1R
|
34 |
297 |
4.8e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226874
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227003
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227702
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227940
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228098
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228374
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228561
AA Change: D98G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228526
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228248
AA Change: D164G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,359 (GRCm39) |
V851E |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,870,620 (GRCm39) |
I351T |
probably benign |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,556,369 (GRCm39) |
E285G |
probably damaging |
Het |
| Arfgef1 |
A |
C |
1: 10,243,480 (GRCm39) |
I1023R |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,451,833 (GRCm39) |
V133I |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,753,403 (GRCm39) |
T401A |
possibly damaging |
Het |
| Capn3 |
G |
A |
2: 120,320,170 (GRCm39) |
V283M |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,823,587 (GRCm39) |
V1261E |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,636 (GRCm39) |
A174T |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,054,198 (GRCm39) |
V27A |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,859,766 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,203,996 (GRCm39) |
L554P |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,358,696 (GRCm39) |
H293L |
probably benign |
Het |
| Erbin |
G |
T |
13: 103,975,957 (GRCm39) |
H646N |
probably damaging |
Het |
| Faiml |
T |
C |
9: 99,116,511 (GRCm39) |
N60D |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,723 (GRCm39) |
S245P |
probably benign |
Het |
| Flot1 |
A |
G |
17: 36,135,552 (GRCm39) |
E102G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,190,204 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
A |
T |
10: 99,281,386 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
A |
G |
1: 54,473,371 (GRCm39) |
S81P |
probably damaging |
Het |
| Hs1bp3 |
C |
T |
12: 8,371,690 (GRCm39) |
Q91* |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,819,661 (GRCm39) |
C324R |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,443,275 (GRCm39) |
T276I |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Kctd1 |
A |
T |
18: 15,196,263 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,285,275 (GRCm39) |
M539K |
possibly damaging |
Het |
| Man2b1 |
T |
A |
8: 85,820,563 (GRCm39) |
F617I |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,473,570 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,806,691 (GRCm39) |
K1543R |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,165 (GRCm39) |
Y265C |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,424 (GRCm39) |
N185K |
probably benign |
Het |
| Nkx2-1 |
A |
G |
12: 56,580,529 (GRCm39) |
M137T |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,270 (GRCm39) |
T269A |
probably benign |
Het |
| Prickle2 |
A |
T |
6: 92,353,574 (GRCm39) |
Y631N |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,377,643 (GRCm39) |
T698A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,648,059 (GRCm39) |
I690V |
probably benign |
Het |
| Rnf44 |
G |
A |
13: 54,830,005 (GRCm39) |
R271W |
probably damaging |
Het |
| Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,805,153 (GRCm39) |
Y904H |
probably damaging |
Het |
| Suz12 |
T |
C |
11: 79,912,922 (GRCm39) |
L322P |
probably damaging |
Het |
| Tnfsf13 |
G |
A |
11: 69,575,973 (GRCm39) |
A38V |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,186,044 (GRCm39) |
R62H |
probably benign |
Het |
| Tor1aip1 |
G |
T |
1: 155,906,180 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
T |
5: 114,771,215 (GRCm39) |
V438E |
probably damaging |
Het |
| Tsku |
A |
T |
7: 98,001,386 (GRCm39) |
V315E |
possibly damaging |
Het |
| Ttc38 |
T |
C |
15: 85,717,373 (GRCm39) |
L16P |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,759 (GRCm39) |
I54V |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,096,795 (GRCm39) |
D334E |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,494 (GRCm39) |
F3311Y |
unknown |
Het |
| Zswim9 |
A |
G |
7: 13,003,482 (GRCm39) |
S123P |
probably damaging |
Het |
|
| Other mutations in Vmn1r71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Vmn1r71
|
APN |
7 |
10,482,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01921:Vmn1r71
|
APN |
7 |
10,482,199 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02397:Vmn1r71
|
APN |
7 |
10,482,199 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02654:Vmn1r71
|
APN |
7 |
10,482,242 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02900:Vmn1r71
|
APN |
7 |
10,482,601 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03236:Vmn1r71
|
APN |
7 |
10,482,211 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03269:Vmn1r71
|
APN |
7 |
10,482,571 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
FR4976:Vmn1r71
|
UTSW |
7 |
10,482,048 (GRCm39) |
missense |
probably benign |
|
|
R0389:Vmn1r71
|
UTSW |
7 |
10,482,238 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0443:Vmn1r71
|
UTSW |
7 |
10,482,238 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0470:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0471:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0472:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0567:Vmn1r71
|
UTSW |
7 |
10,482,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Vmn1r71
|
UTSW |
7 |
10,482,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2350:Vmn1r71
|
UTSW |
7 |
10,481,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2970:Vmn1r71
|
UTSW |
7 |
10,482,641 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3522:Vmn1r71
|
UTSW |
7 |
10,481,792 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4193:Vmn1r71
|
UTSW |
7 |
10,482,175 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4736:Vmn1r71
|
UTSW |
7 |
10,481,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5115:Vmn1r71
|
UTSW |
7 |
10,481,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6108:Vmn1r71
|
UTSW |
7 |
10,482,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6455:Vmn1r71
|
UTSW |
7 |
10,482,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6582:Vmn1r71
|
UTSW |
7 |
10,482,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6696:Vmn1r71
|
UTSW |
7 |
10,482,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6778:Vmn1r71
|
UTSW |
7 |
10,482,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7347:Vmn1r71
|
UTSW |
7 |
10,482,428 (GRCm39) |
missense |
not run |
|
|
R7631:Vmn1r71
|
UTSW |
7 |
10,482,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Vmn1r71
|
UTSW |
7 |
10,482,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7820:Vmn1r71
|
UTSW |
7 |
10,482,652 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7836:Vmn1r71
|
UTSW |
7 |
10,482,277 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGATGTGTTGGACACTCTTCTTG -3'
(R):5'- GGCAGCCAATCTGGTGATACTTCTC -3'
Sequencing Primer
(F):5'- TTGCCAAGGCAGTAAGCA -3'
(R):5'- GTCGAAGTATGTCCATTTGCAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation