Incidental Mutation 'R0908:Vmn1r11'
| ID |
83388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r11
|
| Ensembl Gene |
ENSMUSG00000115236 |
| Gene Name |
vomeronasal 1 receptor 11 |
| Synonyms |
V1rc3 |
| MMRRC Submission |
039066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57114338-57115237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57115049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 201
(V201L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071304]
[ENSMUST00000176954]
[ENSMUST00000226968]
[ENSMUST00000228235]
|
| AlphaFold |
Q3SXA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071304
AA Change: V238L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071272
Gene: ENSMUSG00000115236
AA Change: V238L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
4.5e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176954
AA Change: V238L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135192
Gene: ENSMUSG00000093635
AA Change: V238L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
9.7e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226968
AA Change: V238L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228235
AA Change: V201L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
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 |
|
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 |
|
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'- ACCAATGTGAGTGAGACTAACCAGATGA -3'
(R):5'- GCTAGaccaacatggcacctaccc -3'
Sequencing Primer
(F):5'- TGAGACTAACCAGATGAAAGTCAC -3'
(R):5'- acctacccccacctgaaac -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation