Incidental Mutation 'R9075:Vmn1r43'
ID |
689727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r43
|
Ensembl Gene |
ENSMUSG00000068231 |
Gene Name |
vomeronasal 1 receptor 43 |
Synonyms |
V1ra5 |
MMRRC Submission |
068896-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R9075 (G1)
|
Quality Score |
225.009 |
Status
|
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 |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
G |
1: 120,097,014 (GRCm39) |
S137A |
|
Het |
Actl6a |
G |
T |
3: 32,769,641 (GRCm39) |
C152F |
possibly damaging |
Het |
Adam26b |
A |
T |
8: 43,973,405 (GRCm39) |
D532E |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,598,793 (GRCm39) |
N878S |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,975,597 (GRCm39) |
S387P |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,153,541 (GRCm39) |
S2350P |
probably damaging |
Het |
Cdh4 |
A |
G |
2: 179,501,940 (GRCm39) |
D300G |
probably damaging |
Het |
Cngb1 |
T |
C |
8: 95,979,993 (GRCm39) |
Y969C |
probably damaging |
Het |
Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
Fam168a |
T |
A |
7: 100,484,582 (GRCm39) |
V224D |
probably damaging |
Het |
Fam210a |
C |
T |
18: 68,405,693 (GRCm39) |
V177M |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,447,646 (GRCm39) |
I1150F |
probably damaging |
Het |
Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
Gm11555 |
C |
T |
11: 99,540,694 (GRCm39) |
C95Y |
|
Het |
Gns |
A |
G |
10: 121,226,542 (GRCm39) |
N397S |
probably benign |
Het |
Grin2b |
CA |
C |
6: 135,709,509 (GRCm39) |
|
probably null |
Het |
Ifi204 |
T |
A |
1: 173,589,282 (GRCm39) |
N50Y |
possibly damaging |
Het |
Iqub |
T |
A |
6: 24,446,124 (GRCm39) |
I767F |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,857,588 (GRCm39) |
L3087Q |
probably damaging |
Het |
Mars2 |
A |
G |
1: 55,278,154 (GRCm39) |
T586A |
probably damaging |
Het |
Mrps28 |
G |
T |
3: 8,867,312 (GRCm39) |
S185R |
probably benign |
Het |
Nphp4 |
T |
C |
4: 152,591,905 (GRCm39) |
Y363H |
probably damaging |
Het |
Nploc4 |
T |
C |
11: 120,304,526 (GRCm39) |
T232A |
possibly damaging |
Het |
Pate3 |
A |
G |
9: 35,557,893 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
G |
A |
3: 49,699,339 (GRCm39) |
A1041V |
probably benign |
Het |
Plpp5 |
T |
A |
8: 26,210,379 (GRCm39) |
Y50N |
probably benign |
Het |
Ppp4r4 |
G |
T |
12: 103,570,290 (GRCm39) |
G755* |
probably null |
Het |
Psmd14 |
T |
A |
2: 61,607,021 (GRCm39) |
V156D |
probably damaging |
Het |
Ptch1 |
G |
A |
13: 63,681,335 (GRCm39) |
R651C |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,589,403 (GRCm39) |
E265G |
probably damaging |
Het |
Rbmx |
G |
A |
X: 56,432,717 (GRCm39) |
P301L |
probably benign |
Het |
Rimbp2 |
T |
A |
5: 128,851,312 (GRCm39) |
D878V |
probably damaging |
Het |
Sarm1 |
T |
C |
11: 78,374,023 (GRCm39) |
K668R |
probably benign |
Het |
Slc10a2 |
C |
A |
8: 5,155,267 (GRCm39) |
|
probably benign |
Het |
Slc15a3 |
T |
C |
19: 10,826,094 (GRCm39) |
S262P |
probably damaging |
Het |
Slf2 |
T |
C |
19: 44,930,860 (GRCm39) |
Y646H |
probably damaging |
Het |
Smpd4 |
C |
T |
16: 17,457,849 (GRCm39) |
P406S |
unknown |
Het |
Sv2b |
A |
G |
7: 74,789,845 (GRCm39) |
V396A |
possibly damaging |
Het |
Swt1 |
A |
G |
1: 151,246,245 (GRCm39) |
|
probably benign |
Het |
Sympk |
A |
G |
7: 18,776,563 (GRCm39) |
E485G |
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,982,501 (GRCm39) |
V762A |
probably benign |
Het |
Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,341,356 (GRCm39) |
G275V |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,754,259 (GRCm39) |
Y998C |
probably damaging |
Het |
Trappc10 |
A |
T |
10: 78,040,130 (GRCm39) |
V607E |
possibly damaging |
Het |
Trim69 |
A |
T |
2: 122,009,264 (GRCm39) |
R441S |
probably benign |
Het |
Trio |
G |
T |
15: 27,774,022 (GRCm39) |
S1814* |
probably null |
Het |
Vmn1r192 |
C |
T |
13: 22,371,333 (GRCm39) |
V296I |
probably benign |
Het |
Vmn1r223 |
A |
G |
13: 23,433,600 (GRCm39) |
S65G |
possibly damaging |
Het |
Vmn2r41 |
A |
G |
7: 8,141,250 (GRCm39) |
V738A |
probably benign |
Het |
Zfp408 |
A |
G |
2: 91,476,065 (GRCm39) |
V363A |
possibly damaging |
Het |
Zfp583 |
A |
T |
7: 6,319,870 (GRCm39) |
C381S |
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 |
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 |
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'- AGGTCATGAGCATCAGGATG -3'
(R):5'- AGGCCATCATTCTTAGTCCCAG -3'
Sequencing Primer
(F):5'- CATCAGGATGGTCTGGGTAGCAC -3'
(R):5'- GTCCCAGAAGCTCCTGTTTATCAAAG -3'
|
Posted On |
2021-11-19 |