Incidental Mutation 'V1662:Vmn1r193'
| ID |
63497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r193
|
| Ensembl Gene |
ENSMUSG00000046932 |
| Gene Name |
vomeronasal 1 receptor 193 |
| Synonyms |
V1ri9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
V1662 ()
of strain
633
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22403031-22403990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22403245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 249
(I249T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057516]
[ENSMUST00000227457]
[ENSMUST00000227562]
[ENSMUST00000228303]
|
| AlphaFold |
Q8R258 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057516
AA Change: I249T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058480
Gene: ENSMUSG00000046932
AA Change: I249T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
23 |
317 |
4.4e-8 |
PFAM |
|
Pfam:V1R
|
52 |
315 |
5.1e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227457
AA Change: I249T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227562
AA Change: I249T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228303
AA Change: I249T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
C |
5: 114,376,769 (GRCm39) |
G1951R |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,071,894 (GRCm39) |
L146Q |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,323,540 (GRCm39) |
V601M |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,540,636 (GRCm39) |
R154Q |
probably damaging |
Het |
| Bank1 |
T |
A |
3: 135,760,179 (GRCm39) |
D782V |
probably damaging |
Het |
| Bhlha9 |
G |
T |
11: 76,563,862 (GRCm39) |
R163L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,596,283 (GRCm39) |
N1913D |
possibly damaging |
Het |
| Cd7 |
T |
C |
11: 120,927,952 (GRCm39) |
I184V |
probably benign |
Het |
| Cdk2ap1 |
T |
A |
5: 124,486,739 (GRCm39) |
I68F |
possibly damaging |
Het |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,874 (GRCm39) |
S346P |
unknown |
Het |
| Daam2 |
A |
G |
17: 49,771,629 (GRCm39) |
L839P |
possibly damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,091 (GRCm39) |
R82G |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| H2-T9 |
A |
G |
17: 36,439,823 (GRCm39) |
Y104H |
probably benign |
Het |
| Itgav |
C |
T |
2: 83,614,198 (GRCm39) |
R519W |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Or2y8 |
T |
C |
11: 52,036,004 (GRCm39) |
M118V |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or5m13 |
C |
A |
2: 85,748,938 (GRCm39) |
T223K |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,304,169 (GRCm39) |
G307S |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,783 (GRCm39) |
Y443F |
probably damaging |
Het |
| Rpusd4 |
C |
A |
9: 35,184,057 (GRCm39) |
S237R |
probably benign |
Het |
| Sdk2 |
A |
C |
11: 113,725,734 (GRCm39) |
W1172G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
|
| Other mutations in Vmn1r193 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Vmn1r193
|
APN |
13 |
22,403,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Vmn1r193
|
APN |
13 |
22,403,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01939:Vmn1r193
|
APN |
13 |
22,403,893 (GRCm39) |
nonsense |
probably null |
|
|
IGL03394:Vmn1r193
|
APN |
13 |
22,403,939 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0158:Vmn1r193
|
UTSW |
13 |
22,403,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Vmn1r193
|
UTSW |
13 |
22,403,561 (GRCm39) |
missense |
probably benign |
|
|
R2035:Vmn1r193
|
UTSW |
13 |
22,403,732 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4651:Vmn1r193
|
UTSW |
13 |
22,403,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Vmn1r193
|
UTSW |
13 |
22,403,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5298:Vmn1r193
|
UTSW |
13 |
22,403,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Vmn1r193
|
UTSW |
13 |
22,403,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Vmn1r193
|
UTSW |
13 |
22,403,138 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6958:Vmn1r193
|
UTSW |
13 |
22,404,144 (GRCm39) |
start gained |
probably benign |
|
|
R8095:Vmn1r193
|
UTSW |
13 |
22,403,231 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8128:Vmn1r193
|
UTSW |
13 |
22,403,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8211:Vmn1r193
|
UTSW |
13 |
22,403,286 (GRCm39) |
nonsense |
probably null |
|
|
R8308:Vmn1r193
|
UTSW |
13 |
22,403,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8889:Vmn1r193
|
UTSW |
13 |
22,403,839 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8949:Vmn1r193
|
UTSW |
13 |
22,403,920 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9138:Vmn1r193
|
UTSW |
13 |
22,403,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9364:Vmn1r193
|
UTSW |
13 |
22,403,989 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R9554:Vmn1r193
|
UTSW |
13 |
22,403,989 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
Z1177:Vmn1r193
|
UTSW |
13 |
22,403,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATTGCTCAGGGGACACAGCAGG -3'
(R):5'- ATATGCTGCCATCCAGGCACAC -3'
Sequencing Primer
(F):5'- ATCCTTGATGATCAGGATAAAAGGGC -3'
(R):5'- TCCAGGCACACAGTTAAGTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation