Incidental Mutation 'R1347:Vmn1r11'
ID |
156534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r11
|
Ensembl Gene |
ENSMUSG00000115236 |
Gene Name |
vomeronasal 1 receptor 11 |
Synonyms |
V1rc3 |
MMRRC Submission |
039412-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R1347 (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 A
at 57114963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 209
(C209Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071304]
[ENSMUST00000176954]
[ENSMUST00000226968]
[ENSMUST00000228235]
|
AlphaFold |
Q3SXA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071304
AA Change: C209Y
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000071272 Gene: ENSMUSG00000115236 AA Change: C209Y
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
293 |
4.5e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176954
AA Change: C209Y
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000135192 Gene: ENSMUSG00000093635 AA Change: C209Y
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
293 |
9.7e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226968
AA Change: C209Y
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228235
AA Change: C172Y
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 96.4%
- 10x: 88.6%
- 20x: 71.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
Arpc1a |
G |
T |
5: 145,034,082 (GRCm39) |
W150L |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,350 (GRCm39) |
D646G |
probably damaging |
Het |
Foxa1 |
A |
T |
12: 57,589,070 (GRCm39) |
H383Q |
probably damaging |
Het |
Fpr-rs6 |
T |
C |
17: 20,403,011 (GRCm39) |
T117A |
probably benign |
Het |
Fry |
A |
T |
5: 150,419,283 (GRCm39) |
E905V |
probably damaging |
Het |
Glyr1 |
T |
C |
16: 4,839,203 (GRCm39) |
D338G |
probably damaging |
Het |
Gpd2 |
A |
T |
2: 57,247,683 (GRCm39) |
K542M |
probably damaging |
Het |
Itpr3 |
T |
C |
17: 27,330,535 (GRCm39) |
F1679L |
probably benign |
Het |
Kif23 |
A |
G |
9: 61,834,438 (GRCm39) |
M427T |
probably damaging |
Het |
Kpna1 |
T |
A |
16: 35,829,696 (GRCm39) |
I83N |
probably benign |
Het |
Man2a1 |
T |
C |
17: 65,019,445 (GRCm39) |
F770L |
probably damaging |
Het |
Mrpl44 |
T |
A |
1: 79,755,669 (GRCm39) |
F92I |
probably damaging |
Het |
Or2a56 |
A |
C |
6: 42,932,639 (GRCm39) |
D69A |
probably damaging |
Het |
Or5b105 |
T |
C |
19: 13,080,054 (GRCm39) |
I199V |
probably benign |
Het |
Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
Rims3 |
G |
A |
4: 120,740,322 (GRCm39) |
G90S |
probably damaging |
Het |
Rock2 |
G |
A |
12: 17,027,625 (GRCm39) |
C1314Y |
possibly damaging |
Het |
Serpinb6e |
C |
T |
13: 34,025,180 (GRCm39) |
C37Y |
possibly damaging |
Het |
Spata31d1c |
C |
T |
13: 65,183,202 (GRCm39) |
T248I |
probably benign |
Het |
Tbx15 |
C |
A |
3: 99,259,427 (GRCm39) |
Q433K |
possibly damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Zim1 |
C |
A |
7: 6,680,430 (GRCm39) |
C411F |
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 |
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 |
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 |
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'- CCCAATACCTCGCTGTTGGCAAAA -3'
(R):5'- GTCAGGATGACTGGGTCATACATCCAT -3'
Sequencing Primer
(F):5'- GTGCTTATACCAATGTGAGTGAGAC -3'
(R):5'- TGGGTCATACATCCATAACAGG -3'
|
Posted On |
2014-02-11 |