Incidental Mutation 'R9237:Vmn1r43'
| ID |
700533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r43
|
| Ensembl Gene |
ENSMUSG00000068231 |
| Gene Name |
vomeronasal 1 receptor 43 |
| Synonyms |
V1ra5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R9237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
89846443-89847511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89846877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 203
(T203M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089418]
[ENSMUST00000226741]
[ENSMUST00000226983]
[ENSMUST00000227279]
[ENSMUST00000228709]
|
| AlphaFold |
Q8VIC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089418
AA Change: T203M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: T203M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
54 |
318 |
2.9e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226741
AA Change: T203M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226983
AA Change: T203M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227279
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228709
AA Change: T203M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,318,557 (GRCm39) |
N1815K |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,494,816 (GRCm39) |
A359S |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,470 (GRCm39) |
N206D |
possibly damaging |
Het |
| Adgrf4 |
T |
A |
17: 42,980,782 (GRCm39) |
H101L |
probably benign |
Het |
| Ager |
T |
A |
17: 34,816,869 (GRCm39) |
M1K |
probably null |
Het |
| Akap12 |
T |
C |
10: 4,307,231 (GRCm39) |
I1452T |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
| Bnip5 |
T |
C |
17: 29,123,522 (GRCm39) |
E392G |
probably benign |
Het |
| C8b |
A |
G |
4: 104,650,481 (GRCm39) |
T430A |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,873,025 (GRCm39) |
R455W |
probably damaging |
Het |
| Erbb4 |
T |
G |
1: 68,081,601 (GRCm39) |
Q1144H |
possibly damaging |
Het |
| Exoc2 |
G |
A |
13: 31,048,858 (GRCm39) |
H732Y |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,632,483 (GRCm39) |
M1219L |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,359,683 (GRCm39) |
K36E |
possibly damaging |
Het |
| Gpr156 |
C |
T |
16: 37,825,648 (GRCm39) |
Q622* |
probably null |
Het |
| Grip1 |
C |
T |
10: 119,911,310 (GRCm39) |
S1091L |
probably benign |
Het |
| H4c12 |
A |
G |
13: 21,934,534 (GRCm39) |
S48P |
probably damaging |
Het |
| Helt |
A |
G |
8: 46,745,536 (GRCm39) |
F154L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Ighg2b |
A |
T |
12: 113,270,217 (GRCm39) |
V267E |
|
Het |
| Map3k10 |
C |
T |
7: 27,357,842 (GRCm39) |
W645* |
probably null |
Het |
| Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,810,444 (GRCm39) |
E657G |
probably benign |
Het |
| Myom1 |
C |
T |
17: 71,408,051 (GRCm39) |
T1195I |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,152,591 (GRCm39) |
V646A |
possibly damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,783,073 (GRCm39) |
M128K |
probably benign |
Het |
| Nr2f6 |
A |
C |
8: 71,831,073 (GRCm39) |
C112W |
probably damaging |
Het |
| Or5af1 |
A |
T |
11: 58,722,057 (GRCm39) |
I26F |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,754,267 (GRCm39) |
Y218* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,853,896 (GRCm39) |
N139S |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,145,260 (GRCm39) |
N450K |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,034 (GRCm39) |
I106T |
possibly damaging |
Het |
| Phyhipl |
C |
A |
10: 70,406,720 (GRCm39) |
R78L |
possibly damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,246,932 (GRCm39) |
D268G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rcbtb2 |
C |
A |
14: 73,411,936 (GRCm39) |
H408Q |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,096,803 (GRCm39) |
V271E |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,408,605 (GRCm39) |
V240E |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,146,073 (GRCm39) |
N742S |
probably benign |
Het |
| Tas2r118 |
T |
A |
6: 23,969,617 (GRCm39) |
Y148F |
probably benign |
Het |
| Trmt5 |
G |
T |
12: 73,331,568 (GRCm39) |
Q163K |
probably benign |
Het |
| Ube2d1 |
T |
A |
10: 71,097,925 (GRCm39) |
I37F |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,841,479 (GRCm39) |
P2503L |
probably damaging |
Het |
|
| Other mutations in Vmn1r43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01748:Vmn1r43
|
APN |
6 |
89,847,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02476:Vmn1r43
|
APN |
6 |
89,847,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02958:Vmn1r43
|
APN |
6 |
89,847,031 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0413:Vmn1r43
|
UTSW |
6 |
89,846,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Vmn1r43
|
UTSW |
6 |
89,846,572 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1668:Vmn1r43
|
UTSW |
6 |
89,846,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4419:Vmn1r43
|
UTSW |
6 |
89,846,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4719:Vmn1r43
|
UTSW |
6 |
89,846,837 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4798:Vmn1r43
|
UTSW |
6 |
89,846,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5520:Vmn1r43
|
UTSW |
6 |
89,846,728 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5643:Vmn1r43
|
UTSW |
6 |
89,847,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Vmn1r43
|
UTSW |
6 |
89,847,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5717:Vmn1r43
|
UTSW |
6 |
89,846,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Vmn1r43
|
UTSW |
6 |
89,846,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Vmn1r43
|
UTSW |
6 |
89,847,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6942:Vmn1r43
|
UTSW |
6 |
89,847,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7092:Vmn1r43
|
UTSW |
6 |
89,846,885 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7402:Vmn1r43
|
UTSW |
6 |
89,846,803 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7457:Vmn1r43
|
UTSW |
6 |
89,847,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7572:Vmn1r43
|
UTSW |
6 |
89,846,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7807:Vmn1r43
|
UTSW |
6 |
89,847,219 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8406:Vmn1r43
|
UTSW |
6 |
89,847,414 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8696:Vmn1r43
|
UTSW |
6 |
89,847,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8859:Vmn1r43
|
UTSW |
6 |
89,846,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Vmn1r43
|
UTSW |
6 |
89,846,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9072:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9293:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Vmn1r43
|
UTSW |
6 |
89,846,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9398:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9594:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9656:Vmn1r43
|
UTSW |
6 |
89,847,440 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
X0020:Vmn1r43
|
UTSW |
6 |
89,847,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn1r43
|
UTSW |
6 |
89,847,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATGAGCATCAGGATGG -3'
(R):5'- CCATCATTCTTAGTCCCAGAAGC -3'
Sequencing Primer
(F):5'- CATCAGGATGGTCTGGGTAGCAC -3'
(R):5'- GTCCCAGAAGCTCCTGTTTATCAAAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation