Incidental Mutation 'R5717:Vmn1r43'
ID |
451214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r43
|
Ensembl Gene |
ENSMUSG00000068231 |
Gene Name |
vomeronasal 1 receptor 43 |
Synonyms |
V1ra5 |
MMRRC Submission |
043337-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R5717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
89846443-89847511 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89846905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 194
(S194G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089418]
[ENSMUST00000226741]
[ENSMUST00000226983]
[ENSMUST00000227279]
[ENSMUST00000228709]
|
AlphaFold |
Q8VIC9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089418
AA Change: S194G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086839 Gene: ENSMUSG00000068231 AA Change: S194G
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
54 |
318 |
2.9e-126 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226240
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226741
AA Change: S194G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226983
AA Change: S194G
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: S194G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
A |
T |
19: 42,041,484 (GRCm39) |
H205L |
probably benign |
Het |
Acss2 |
T |
C |
2: 155,403,073 (GRCm39) |
L617S |
probably damaging |
Het |
Adgrl4 |
T |
C |
3: 151,197,971 (GRCm39) |
V77A |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,171,479 (GRCm39) |
S977P |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,619,377 (GRCm39) |
K1492E |
possibly damaging |
Het |
B4galt5 |
G |
A |
2: 167,148,549 (GRCm39) |
R190C |
probably damaging |
Het |
Bbs1 |
A |
G |
19: 4,947,354 (GRCm39) |
V355A |
possibly damaging |
Het |
Cenpj |
GTTTT |
GTTTTT |
14: 56,790,978 (GRCm39) |
|
probably null |
Het |
Ckap2 |
T |
C |
8: 22,665,063 (GRCm39) |
E467G |
probably damaging |
Het |
Cry1 |
A |
T |
10: 84,982,280 (GRCm39) |
H355Q |
probably damaging |
Het |
Cspg4 |
G |
T |
9: 56,793,082 (GRCm39) |
M272I |
probably benign |
Het |
Dicer1 |
T |
A |
12: 104,671,387 (GRCm39) |
Y961F |
probably damaging |
Het |
Epha2 |
A |
T |
4: 141,049,382 (GRCm39) |
M689L |
probably benign |
Het |
Foxc1 |
C |
T |
13: 31,991,471 (GRCm39) |
A94V |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,929,596 (GRCm39) |
V4000A |
possibly damaging |
Het |
Frmd8 |
G |
T |
19: 5,923,396 (GRCm39) |
|
probably benign |
Het |
Gm5218 |
A |
G |
15: 81,383,478 (GRCm39) |
|
noncoding transcript |
Het |
Gm7735 |
T |
C |
16: 88,966,430 (GRCm39) |
L18P |
unknown |
Het |
Hr |
C |
T |
14: 70,803,616 (GRCm39) |
T808I |
probably benign |
Het |
Hyal6 |
T |
C |
6: 24,743,690 (GRCm39) |
M462T |
probably benign |
Het |
Igkv6-20 |
T |
A |
6: 70,313,412 (GRCm39) |
|
probably benign |
Het |
Igkv8-27 |
T |
A |
6: 70,148,918 (GRCm39) |
T59S |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,659,531 (GRCm39) |
T428A |
probably benign |
Het |
Klk1b16 |
A |
G |
7: 43,788,913 (GRCm39) |
I49V |
probably benign |
Het |
Matn2 |
G |
T |
15: 34,399,237 (GRCm39) |
E375* |
probably null |
Het |
Msgn1 |
T |
C |
12: 11,258,519 (GRCm39) |
Y144C |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,099,782 (GRCm39) |
N564S |
probably benign |
Het |
Mypn |
A |
G |
10: 62,963,555 (GRCm39) |
V972A |
probably damaging |
Het |
Or4c29 |
T |
C |
2: 88,740,366 (GRCm39) |
I124V |
possibly damaging |
Het |
Or5an11 |
A |
G |
19: 12,246,520 (GRCm39) |
K309E |
probably benign |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Ppp2r5d |
A |
G |
17: 46,998,820 (GRCm39) |
S81P |
probably damaging |
Het |
Ptgis |
C |
T |
2: 167,050,284 (GRCm39) |
|
probably benign |
Het |
Ptprr |
A |
G |
10: 115,884,018 (GRCm39) |
N25S |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,944,623 (GRCm39) |
T456I |
probably damaging |
Het |
Rpl6l |
T |
C |
10: 110,961,884 (GRCm39) |
|
noncoding transcript |
Het |
Rps25 |
A |
G |
9: 44,320,047 (GRCm39) |
Y23C |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,598,037 (GRCm39) |
V879A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,382,330 (GRCm39) |
A739V |
probably benign |
Het |
Senp6 |
A |
T |
9: 79,999,594 (GRCm39) |
I4F |
probably damaging |
Het |
Slc49a4 |
A |
G |
16: 35,539,799 (GRCm39) |
F341L |
probably benign |
Het |
Stoml3 |
A |
T |
3: 53,412,937 (GRCm39) |
Q197L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,578,091 (GRCm39) |
K24267N |
probably damaging |
Het |
Vmn2r17 |
C |
T |
5: 109,575,140 (GRCm39) |
T149I |
possibly damaging |
Het |
Wdr72 |
T |
A |
9: 74,055,487 (GRCm39) |
Y239N |
probably damaging |
Het |
Zfp423 |
A |
T |
8: 88,413,187 (GRCm39) |
|
probably null |
Het |
Zfp759 |
T |
A |
13: 67,286,772 (GRCm39) |
C114S |
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 |
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 |
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'- CATTCTTAGTCCCAGAAGCTCC -3'
Sequencing Primer
(F):5'- CATCAGGATGGTCTGGGTAGCAC -3'
(R):5'- GTCCCAGAAGCTCCTGTTTATCAAAG -3'
|
Posted On |
2017-01-03 |