Incidental Mutation 'R9595:Vmn1r43'
| ID |
723213 |
| 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 # |
R9595 (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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,464,566 (GRCm39) |
M921T |
probably benign |
Het |
| Ankrd33 |
T |
C |
15: 101,013,785 (GRCm39) |
|
probably null |
Het |
| Azin2 |
A |
G |
4: 128,853,617 (GRCm39) |
V80A |
probably benign |
Het |
| Capza3 |
A |
T |
6: 139,987,712 (GRCm39) |
I104F |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,451,762 (GRCm39) |
L418P |
probably damaging |
Het |
| Cd86 |
A |
T |
16: 36,441,275 (GRCm39) |
V64D |
probably damaging |
Het |
| Cfap65 |
A |
G |
1: 74,946,537 (GRCm39) |
S1352P |
probably damaging |
Het |
| Chst10 |
C |
A |
1: 38,913,029 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
G |
T |
4: 95,933,797 (GRCm39) |
C362* |
probably null |
Het |
| Ddn |
T |
C |
15: 98,705,577 (GRCm39) |
T40A |
possibly damaging |
Het |
| Dennd2b |
C |
T |
7: 109,155,973 (GRCm39) |
R259Q |
probably damaging |
Het |
| Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
| Fermt3 |
C |
T |
19: 6,979,619 (GRCm39) |
V505M |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,433,720 (GRCm39) |
H88R |
probably benign |
Het |
| Glyat |
A |
G |
19: 12,623,728 (GRCm39) |
D48G |
probably damaging |
Het |
| Hdac5 |
A |
G |
11: 102,096,129 (GRCm39) |
V348A |
probably benign |
Het |
| Ighv2-3 |
T |
C |
12: 113,575,084 (GRCm39) |
K24E |
probably benign |
Het |
| Iglv1 |
A |
G |
16: 18,903,948 (GRCm39) |
V57A |
possibly damaging |
Het |
| Il16 |
G |
T |
7: 83,322,273 (GRCm39) |
Y347* |
probably null |
Het |
| Il20rb |
G |
A |
9: 100,368,311 (GRCm39) |
T24M |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,016,182 (GRCm39) |
D797G |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,392,552 (GRCm39) |
T958S |
probably benign |
Het |
| Mall |
G |
T |
2: 127,571,751 (GRCm39) |
Y12* |
probably null |
Het |
| N4bp3 |
C |
T |
11: 51,536,932 (GRCm39) |
R47Q |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,551,790 (GRCm39) |
D467G |
probably damaging |
Het |
| Or12k8 |
C |
A |
2: 36,975,204 (GRCm39) |
K185N |
possibly damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,939 (GRCm39) |
S279P |
probably damaging |
Het |
| Or1af1 |
T |
A |
2: 37,110,281 (GRCm39) |
I260N |
probably damaging |
Het |
| Or4f61 |
T |
C |
2: 111,922,375 (GRCm39) |
T224A |
probably damaging |
Het |
| Or7a40 |
G |
A |
16: 16,491,470 (GRCm39) |
A125V |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,211,661 (GRCm39) |
N56S |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,909 (GRCm39) |
E397G |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,524,817 (GRCm39) |
I111K |
possibly damaging |
Het |
| Pcnx1 |
T |
A |
12: 81,965,688 (GRCm39) |
H90Q |
|
Het |
| Pde4dip |
C |
T |
3: 97,602,207 (GRCm39) |
|
probably null |
Het |
| Peli2 |
T |
A |
14: 48,493,846 (GRCm39) |
V356D |
probably damaging |
Het |
| Phyhipl |
G |
T |
10: 70,395,512 (GRCm39) |
C231* |
probably null |
Het |
| Pirb |
A |
T |
7: 3,722,406 (GRCm39) |
S146T |
possibly damaging |
Het |
| Rac1 |
G |
A |
5: 143,513,643 (GRCm39) |
|
probably benign |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,672 (GRCm39) |
R230Q |
probably damaging |
Het |
| Slc38a8 |
C |
A |
8: 120,209,403 (GRCm39) |
C390F |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,592,688 (GRCm39) |
L454F |
possibly damaging |
Het |
| Slit1 |
A |
C |
19: 41,637,851 (GRCm39) |
I314S |
probably damaging |
Het |
| Son |
T |
G |
16: 91,454,241 (GRCm39) |
M996R |
possibly damaging |
Het |
| Sp4 |
A |
G |
12: 118,262,690 (GRCm39) |
V452A |
possibly damaging |
Het |
| Tmf1 |
C |
T |
6: 97,135,457 (GRCm39) |
D940N |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,259,350 (GRCm39) |
P1013L |
probably damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,508 (GRCm39) |
S40T |
probably damaging |
Het |
| Wdr49 |
C |
T |
3: 75,265,747 (GRCm39) |
C233Y |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,758,961 (GRCm39) |
E999G |
probably benign |
Het |
| Yju2b |
C |
T |
8: 84,988,400 (GRCm39) |
V76I |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,611,462 (GRCm39) |
C778S |
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 |
|
R9237: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 |
|
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'- ATCATTCTTAGTCCCAGAAGCTCC -3'
Sequencing Primer
(F):5'- CATCAGGATGGTCTGGGTAGCAC -3'
(R):5'- GTCCCAGAAGCTCCTGTTTATCAAAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation