Incidental Mutation 'R1185:Vmn1r11'
| ID |
200852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r11
|
| Ensembl Gene |
ENSMUSG00000115236 |
| Gene Name |
vomeronasal 1 receptor 11 |
| Synonyms |
V1rc3 |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1185 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57114338-57115237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57114492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 52
(L52Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071304]
[ENSMUST00000176954]
[ENSMUST00000226968]
[ENSMUST00000228235]
|
| AlphaFold |
Q3SXA2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071304
AA Change: L52Q
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071272
Gene: ENSMUSG00000115236
AA Change: L52Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
4.5e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176954
AA Change: L52Q
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135192
Gene: ENSMUSG00000093635
AA Change: L52Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
9.7e-59 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226968
AA Change: L52Q
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228235
AA Change: L15Q
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Ift70a1 |
A |
T |
2: 75,810,696 (GRCm39) |
N462K |
probably damaging |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
| Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
Het |
|
| Other mutations in Vmn1r11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02134:Vmn1r11
|
APN |
6 |
57,115,022 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02141:Vmn1r11
|
APN |
6 |
57,114,364 (GRCm39) |
nonsense |
probably null |
|
|
IGL03147:Vmn1r11
|
UTSW |
6 |
57,114,650 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0908:Vmn1r11
|
UTSW |
6 |
57,115,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Vmn1r11
|
UTSW |
6 |
57,114,492 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1185:Vmn1r11
|
UTSW |
6 |
57,114,492 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1347:Vmn1r11
|
UTSW |
6 |
57,114,963 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1347:Vmn1r11
|
UTSW |
6 |
57,114,963 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1348:Vmn1r11
|
UTSW |
6 |
57,114,963 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1349:Vmn1r11
|
UTSW |
6 |
57,114,963 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1373:Vmn1r11
|
UTSW |
6 |
57,114,963 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1497:Vmn1r11
|
UTSW |
6 |
57,114,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Vmn1r11
|
UTSW |
6 |
57,114,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2367:Vmn1r11
|
UTSW |
6 |
57,114,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3087:Vmn1r11
|
UTSW |
6 |
57,114,691 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4445:Vmn1r11
|
UTSW |
6 |
57,114,515 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4667:Vmn1r11
|
UTSW |
6 |
57,114,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Vmn1r11
|
UTSW |
6 |
57,114,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Vmn1r11
|
UTSW |
6 |
57,114,617 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5841:Vmn1r11
|
UTSW |
6 |
57,114,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Vmn1r11
|
UTSW |
6 |
57,114,645 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7155:Vmn1r11
|
UTSW |
6 |
57,115,147 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7359:Vmn1r11
|
UTSW |
6 |
57,115,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8846:Vmn1r11
|
UTSW |
6 |
57,114,807 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9222:Vmn1r11
|
UTSW |
6 |
57,114,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9300:Vmn1r11
|
UTSW |
6 |
57,114,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9517:Vmn1r11
|
UTSW |
6 |
57,114,555 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTCAGGTGCAATCCAGGCACAG -3'
(R):5'- AGGTATTGGGACTGATGGTGACAGC -3'
Sequencing Primer
(F):5'- CTGTTCAGTGAATCACAAGACTGATG -3'
(R):5'- TGGTGACAGCCTGGAACAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation