Incidental Mutation 'R5115:Vmn1r71'
| ID |
394148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r71
|
| Ensembl Gene |
ENSMUSG00000059206 |
| Gene Name |
vomeronasal 1 receptor 71 |
| Synonyms |
V1re13 |
| MMRRC Submission |
042703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10481429-10483465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10481885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 202
(M202L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079113]
[ENSMUST00000226874]
[ENSMUST00000227003]
[ENSMUST00000227702]
[ENSMUST00000227940]
[ENSMUST00000228098]
[ENSMUST00000228561]
[ENSMUST00000228248]
[ENSMUST00000228374]
[ENSMUST00000228526]
|
| AlphaFold |
Q8VIC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079113
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000078116
Gene: ENSMUSG00000059206
AA Change: M268L
| 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: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227003
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227702
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227940
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228098
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228561
AA Change: M202L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228248
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228374
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228526
AA Change: M268L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
C |
T |
11: 54,231,324 (GRCm39) |
|
probably null |
Het |
| Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
| Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
| Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,604,751 (GRCm39) |
H488R |
probably benign |
Het |
| Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
| Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
| Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
| Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
| Mfn1 |
T |
C |
3: 32,618,456 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
| Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
| Plin1 |
AGGCCACCAGGGGGTGGGC |
AGGC |
7: 79,379,692 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,227,636 (GRCm39) |
S405G |
probably damaging |
Het |
| Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
| Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
| Tmc6 |
G |
A |
11: 117,666,014 (GRCm39) |
T300I |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,831,510 (GRCm39) |
|
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
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 |
|
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'- GACAAGGAATGGCTCTCTTAATG -3'
(R):5'- TTGGCAAGTGTCTCCATGATTG -3'
Sequencing Primer
(F):5'- GGCTCTCTTAATGTTCTTTATTGACC -3'
(R):5'- CCATGATTGTCATTCTGTACAGACAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation