Incidental Mutation 'R7795:Vmn1r71'
ID |
600172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r71
|
Ensembl Gene |
ENSMUSG00000059206 |
Gene Name |
vomeronasal 1 receptor 71 |
Synonyms |
V1re13 |
MMRRC Submission |
045851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R7795 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
10481429-10483465 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10482136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 184
(L184S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079113]
[ENSMUST00000226874]
[ENSMUST00000227003]
[ENSMUST00000227702]
[ENSMUST00000227940]
[ENSMUST00000228098]
[ENSMUST00000228248]
[ENSMUST00000228374]
[ENSMUST00000228526]
[ENSMUST00000228561]
|
AlphaFold |
Q8VIC0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079113
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078116 Gene: ENSMUSG00000059206 AA Change: L184S
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 |
probably damaging
Transcript: ENSMUST00000226874
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227003
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227702
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227940
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228098
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228248
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228374
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228526
AA Change: L184S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228561
AA Change: L118S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankle1 |
T |
C |
8: 71,861,337 (GRCm39) |
S391P |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,811,570 (GRCm39) |
Q606R |
probably benign |
Het |
Bmf |
A |
G |
2: 118,377,358 (GRCm39) |
L130P |
probably damaging |
Het |
Ccdc88c |
G |
A |
12: 100,889,570 (GRCm39) |
T1491I |
probably benign |
Het |
Cyp2c69 |
G |
A |
19: 39,864,663 (GRCm39) |
R272C |
probably benign |
Het |
Defa27 |
A |
G |
8: 21,806,354 (GRCm39) |
N78S |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,101,447 (GRCm39) |
D912E |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,099,288 (GRCm39) |
D743N |
probably damaging |
Het |
Epcam |
T |
C |
17: 87,950,983 (GRCm39) |
V190A |
probably benign |
Het |
Exoc2 |
G |
A |
13: 31,060,756 (GRCm39) |
R583* |
probably null |
Het |
Extl1 |
T |
A |
4: 134,091,990 (GRCm39) |
I288F |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fcer2a |
T |
A |
8: 3,732,910 (GRCm39) |
Y299F |
probably benign |
Het |
Frmd4a |
G |
A |
2: 4,595,506 (GRCm39) |
G439R |
probably damaging |
Het |
Gal3st4 |
T |
C |
5: 138,269,100 (GRCm39) |
H120R |
probably benign |
Het |
Grid1 |
C |
A |
14: 35,043,642 (GRCm39) |
N332K |
probably damaging |
Het |
Igkv4-68 |
A |
G |
6: 69,281,896 (GRCm39) |
Y92H |
probably damaging |
Het |
Itga1 |
T |
C |
13: 115,148,772 (GRCm39) |
E283G |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lrrc24 |
A |
G |
15: 76,602,248 (GRCm39) |
L169P |
probably benign |
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Mettl8 |
T |
C |
2: 70,812,243 (GRCm39) |
T131A |
probably benign |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,460,154 (GRCm39) |
D383E |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,479,198 (GRCm39) |
K167N |
probably benign |
Het |
Nkx6-1 |
A |
T |
5: 101,811,628 (GRCm39) |
L158Q |
unknown |
Het |
Nlrp5 |
G |
A |
7: 23,118,219 (GRCm39) |
V648M |
possibly damaging |
Het |
Nvl |
G |
T |
1: 180,924,722 (GRCm39) |
Q811K |
probably benign |
Het |
Or13a21 |
A |
G |
7: 139,999,027 (GRCm39) |
F220L |
possibly damaging |
Het |
Or13p3 |
C |
A |
4: 118,566,855 (GRCm39) |
H84N |
possibly damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,453 (GRCm39) |
T222A |
probably benign |
Het |
Or3a1c |
T |
A |
11: 74,046,844 (GRCm39) |
L288Q |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,881,316 (GRCm39) |
Y224C |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,657 (GRCm39) |
Y324H |
probably benign |
Het |
Pecam1 |
C |
A |
11: 106,586,658 (GRCm39) |
E286* |
probably null |
Het |
Prl7d1 |
A |
T |
13: 27,893,263 (GRCm39) |
L215Q |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,319,729 (GRCm39) |
Y2514* |
probably null |
Het |
Rgs11 |
A |
G |
17: 26,426,552 (GRCm39) |
H261R |
possibly damaging |
Het |
Samd15 |
A |
G |
12: 87,247,506 (GRCm39) |
T64A |
probably benign |
Het |
Shc4 |
T |
A |
2: 125,565,285 (GRCm39) |
S5C |
probably damaging |
Het |
Shroom3 |
G |
A |
5: 93,067,508 (GRCm39) |
V109M |
probably damaging |
Het |
Spata13 |
T |
C |
14: 60,929,291 (GRCm39) |
I283T |
possibly damaging |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Synj2bp |
G |
A |
12: 81,548,922 (GRCm39) |
P106S |
probably benign |
Het |
Tasor |
T |
C |
14: 27,203,340 (GRCm39) |
S289P |
|
Het |
Thoc1 |
T |
C |
18: 9,986,300 (GRCm39) |
V344A |
probably damaging |
Het |
Vps45 |
A |
G |
3: 95,926,936 (GRCm39) |
I537T |
probably benign |
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 |
R1745:Vmn1r71
|
UTSW |
7 |
10,482,196 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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'- AAGCCTCTTAAGATGGTGGTGAG -3'
(R):5'- CAACGCAGCCAAGTACATTG -3'
Sequencing Primer
(F):5'- CCTCTTAAGATGGTGGTGAGAGAAC -3'
(R):5'- GTACATTGGCAGTTGTACTTCC -3'
|
Posted On |
2019-11-26 |