Incidental Mutation 'R1373:Vmn1r11'
ID |
157401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r11
|
Ensembl Gene |
ENSMUSG00000115236 |
Gene Name |
vomeronasal 1 receptor 11 |
Synonyms |
V1rc3 |
MMRRC Submission |
039437-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R1373 (G1)
|
Quality Score |
225 |
Status
|
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: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.2%
|
Validation Efficiency |
94% (34/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
G |
A |
14: 68,808,400 (GRCm39) |
R317C |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,664,392 (GRCm39) |
V1261A |
probably benign |
Het |
Btla |
G |
A |
16: 45,044,783 (GRCm39) |
G23D |
probably benign |
Het |
Card19 |
T |
C |
13: 49,357,440 (GRCm39) |
D110G |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
Ccng2 |
C |
T |
5: 93,418,914 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,667,808 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,268,583 (GRCm39) |
N1437S |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,735,079 (GRCm39) |
I676V |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,314,064 (GRCm39) |
|
probably benign |
Het |
Dock1 |
T |
C |
7: 134,768,904 (GRCm39) |
S1758P |
probably benign |
Het |
Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
Ice2 |
G |
A |
9: 69,314,401 (GRCm39) |
R50H |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,557,913 (GRCm39) |
D275V |
unknown |
Het |
Nrxn2 |
C |
T |
19: 6,522,331 (GRCm39) |
T190M |
probably damaging |
Het |
Odad4 |
T |
C |
11: 100,436,658 (GRCm39) |
F11S |
probably damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,251 (GRCm39) |
I221M |
probably damaging |
Het |
Or2ag17 |
C |
T |
7: 106,389,963 (GRCm39) |
V82I |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,715,544 (GRCm39) |
L1494P |
probably damaging |
Het |
Pitrm1 |
G |
T |
13: 6,620,736 (GRCm39) |
M739I |
probably benign |
Het |
Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
Sfr1 |
C |
G |
19: 47,723,355 (GRCm39) |
D286E |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,803,374 (GRCm39) |
S1147P |
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
Tgfbr3 |
T |
C |
5: 107,362,809 (GRCm39) |
I68V |
probably benign |
Het |
Tpmt |
A |
C |
13: 47,180,734 (GRCm39) |
|
probably null |
Het |
Trpm5 |
A |
G |
7: 142,640,579 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,859,273 (GRCm39) |
|
probably benign |
Het |
Vps13c |
A |
T |
9: 67,834,793 (GRCm39) |
K1707N |
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 |
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 |
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'- CCCAATACCTCGCTGTTGGCAAA -3'
(R):5'- GTCAGGATGACTGGGTCATACATCCAT -3'
Sequencing Primer
(F):5'- GTGCTTATACCAATGTGAGTGAGAC -3'
(R):5'- TGGGTCATACATCCATAACAGG -3'
|
Posted On |
2014-02-18 |