Incidental Mutation 'R7019:Vmn2r50'
ID |
545502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r50
|
Ensembl Gene |
ENSMUSG00000094606 |
Gene Name |
vomeronasal 2, receptor 50 |
Synonyms |
EG434117 |
MMRRC Submission |
045120-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7019 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9784172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 101
(Y101H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
AlphaFold |
E9PW61 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074943
AA Change: Y101H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000074476 Gene: ENSMUSG00000094606 AA Change: Y101H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
469 |
1.4e-32 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
2.9e-20 |
PFAM |
Pfam:7tm_3
|
597 |
833 |
1.3e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086298
AA Change: Y101H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000083478 Gene: ENSMUSG00000094606 AA Change: Y101H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
452 |
7e-31 |
PFAM |
Pfam:NCD3G
|
496 |
549 |
5.3e-19 |
PFAM |
Pfam:7tm_3
|
579 |
818 |
3.9e-78 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
A |
T |
16: 8,436,395 (GRCm39) |
K414* |
probably null |
Het |
Aco1 |
T |
A |
4: 40,186,376 (GRCm39) |
I596N |
probably damaging |
Het |
Adgre1 |
A |
C |
17: 57,717,945 (GRCm39) |
D319A |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,916,340 (GRCm39) |
V445A |
probably benign |
Het |
Btd |
A |
C |
14: 31,389,062 (GRCm39) |
Q261P |
probably damaging |
Het |
Btd |
G |
T |
14: 31,389,063 (GRCm39) |
Q261H |
possibly damaging |
Het |
C7 |
T |
A |
15: 5,075,164 (GRCm39) |
Y176F |
probably benign |
Het |
Ccdc102a |
T |
C |
8: 95,636,431 (GRCm39) |
S287G |
probably benign |
Het |
Ccdc178 |
T |
A |
18: 22,283,495 (GRCm39) |
T12S |
probably benign |
Het |
Cnga4 |
G |
T |
7: 105,055,036 (GRCm39) |
A104S |
probably benign |
Het |
Col10a1 |
G |
T |
10: 34,270,947 (GRCm39) |
L306F |
probably damaging |
Het |
Cpne5 |
T |
C |
17: 29,445,196 (GRCm39) |
D36G |
probably damaging |
Het |
Csmd2 |
G |
A |
4: 128,262,856 (GRCm39) |
D681N |
|
Het |
Cspg4b |
C |
T |
13: 113,488,284 (GRCm39) |
T102I |
probably benign |
Het |
Cstl1 |
A |
G |
2: 148,597,223 (GRCm39) |
M75V |
probably benign |
Het |
Cyp26a1 |
T |
C |
19: 37,687,260 (GRCm39) |
L149P |
probably damaging |
Het |
D630045J12Rik |
T |
G |
6: 38,171,570 (GRCm39) |
E866A |
probably benign |
Het |
Dlec1 |
C |
T |
9: 118,941,490 (GRCm39) |
P292L |
probably benign |
Het |
Dpp3 |
T |
G |
19: 4,966,817 (GRCm39) |
E402A |
possibly damaging |
Het |
Egf |
T |
C |
3: 129,511,713 (GRCm39) |
|
probably null |
Het |
Epha5 |
T |
C |
5: 84,564,321 (GRCm39) |
Q15R |
possibly damaging |
Het |
Esyt3 |
A |
G |
9: 99,197,338 (GRCm39) |
F831L |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fut7 |
A |
G |
2: 25,315,792 (GRCm39) |
D350G |
probably benign |
Het |
Gab1 |
C |
A |
8: 81,511,446 (GRCm39) |
E466D |
probably damaging |
Het |
Glrp1 |
A |
T |
1: 88,430,890 (GRCm39) |
M160K |
unknown |
Het |
Gngt1 |
T |
C |
6: 3,994,088 (GRCm39) |
|
probably null |
Het |
Gprc6a |
A |
T |
10: 51,507,508 (GRCm39) |
V7E |
possibly damaging |
Het |
Idh3b |
A |
T |
2: 130,122,886 (GRCm39) |
V301D |
probably damaging |
Het |
Ifi202b |
A |
C |
1: 173,791,524 (GRCm39) |
C385G |
probably benign |
Het |
Ilvbl |
T |
A |
10: 78,414,920 (GRCm39) |
L261Q |
probably damaging |
Het |
Irx6 |
T |
A |
8: 93,405,362 (GRCm39) |
L410Q |
probably damaging |
Het |
Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
Itih5 |
C |
A |
2: 10,195,138 (GRCm39) |
R177S |
probably damaging |
Het |
Klra3 |
C |
T |
6: 130,304,087 (GRCm39) |
G202R |
probably damaging |
Het |
Krt7 |
T |
C |
15: 101,311,851 (GRCm39) |
V103A |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,661,475 (GRCm39) |
S2145P |
probably damaging |
Het |
Mlph |
A |
G |
1: 90,869,428 (GRCm39) |
R477G |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,379,581 (GRCm39) |
L653F |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,617,852 (GRCm39) |
|
probably null |
Het |
Myrip |
T |
G |
9: 120,251,573 (GRCm39) |
L232R |
probably damaging |
Het |
Nrdc |
A |
T |
4: 108,885,999 (GRCm39) |
H126L |
probably benign |
Het |
Or4n5 |
A |
T |
14: 50,133,124 (GRCm39) |
I45N |
probably damaging |
Het |
Or5p50 |
G |
T |
7: 107,422,365 (GRCm39) |
L104I |
probably benign |
Het |
Or8c11 |
T |
A |
9: 38,290,098 (GRCm39) |
L307Q |
possibly damaging |
Het |
Pcdhb10 |
T |
A |
18: 37,546,056 (GRCm39) |
N377K |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Prkdc |
A |
C |
16: 15,587,830 (GRCm39) |
I2572L |
probably benign |
Het |
Ptpro |
C |
A |
6: 137,357,476 (GRCm39) |
D322E |
probably benign |
Het |
R3hcc1 |
A |
G |
14: 69,941,574 (GRCm39) |
I332T |
probably damaging |
Het |
Rab8a |
T |
C |
8: 72,915,227 (GRCm39) |
F9L |
probably damaging |
Het |
Ranbp3l |
A |
T |
15: 9,057,241 (GRCm39) |
K165N |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,027,741 (GRCm39) |
C1353S |
probably damaging |
Het |
Rsad2 |
T |
A |
12: 26,506,418 (GRCm39) |
M1L |
possibly damaging |
Het |
Tymp |
A |
T |
15: 89,260,484 (GRCm39) |
|
probably null |
Het |
Vmn1r104 |
A |
G |
7: 20,268,491 (GRCm39) |
M244V |
probably benign |
Het |
Vmn1r232 |
G |
A |
17: 21,133,547 (GRCm39) |
T351M |
possibly damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,078,089 (GRCm39) |
L123P |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,134,488 (GRCm39) |
N331D |
probably damaging |
Het |
Wdr47 |
C |
T |
3: 108,521,671 (GRCm39) |
Q89* |
probably null |
Het |
Zcchc4 |
A |
T |
5: 52,941,375 (GRCm39) |
T57S |
probably benign |
Het |
|
Other mutations in Vmn2r50 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01536:Vmn2r50
|
APN |
7 |
9,771,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01739:Vmn2r50
|
APN |
7 |
9,771,364 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02351:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02358:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02871:Vmn2r50
|
APN |
7 |
9,781,714 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02962:Vmn2r50
|
APN |
7 |
9,784,252 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03187:Vmn2r50
|
APN |
7 |
9,771,368 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03346:Vmn2r50
|
APN |
7 |
9,779,929 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4651001:Vmn2r50
|
UTSW |
7 |
9,771,659 (GRCm39) |
missense |
probably benign |
0.30 |
R0530:Vmn2r50
|
UTSW |
7 |
9,781,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1291:Vmn2r50
|
UTSW |
7 |
9,771,404 (GRCm39) |
missense |
probably damaging |
0.98 |
R1438:Vmn2r50
|
UTSW |
7 |
9,784,062 (GRCm39) |
nonsense |
probably null |
|
R1713:Vmn2r50
|
UTSW |
7 |
9,771,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1747:Vmn2r50
|
UTSW |
7 |
9,781,605 (GRCm39) |
missense |
probably benign |
0.20 |
R1750:Vmn2r50
|
UTSW |
7 |
9,786,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1918:Vmn2r50
|
UTSW |
7 |
9,781,610 (GRCm39) |
missense |
probably benign |
0.03 |
R2435:Vmn2r50
|
UTSW |
7 |
9,787,026 (GRCm39) |
missense |
probably benign |
0.27 |
R2511:Vmn2r50
|
UTSW |
7 |
9,781,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3795:Vmn2r50
|
UTSW |
7 |
9,771,851 (GRCm39) |
missense |
probably benign |
0.18 |
R4156:Vmn2r50
|
UTSW |
7 |
9,774,309 (GRCm39) |
missense |
probably benign |
0.12 |
R4332:Vmn2r50
|
UTSW |
7 |
9,786,922 (GRCm39) |
missense |
probably benign |
0.32 |
R4399:Vmn2r50
|
UTSW |
7 |
9,781,834 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4411:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R4412:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R4413:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R4645:Vmn2r50
|
UTSW |
7 |
9,771,162 (GRCm39) |
makesense |
probably null |
|
R5151:Vmn2r50
|
UTSW |
7 |
9,786,970 (GRCm39) |
missense |
probably benign |
0.00 |
R5175:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R5291:Vmn2r50
|
UTSW |
7 |
9,781,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R5457:Vmn2r50
|
UTSW |
7 |
9,781,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R5559:Vmn2r50
|
UTSW |
7 |
9,771,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Vmn2r50
|
UTSW |
7 |
9,784,016 (GRCm39) |
missense |
probably benign |
0.00 |
R5711:Vmn2r50
|
UTSW |
7 |
9,774,299 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5759:Vmn2r50
|
UTSW |
7 |
9,781,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R6004:Vmn2r50
|
UTSW |
7 |
9,783,986 (GRCm39) |
missense |
probably benign |
0.00 |
R6394:Vmn2r50
|
UTSW |
7 |
9,774,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R6762:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
R6995:Vmn2r50
|
UTSW |
7 |
9,779,964 (GRCm39) |
nonsense |
probably null |
|
R6998:Vmn2r50
|
UTSW |
7 |
9,771,684 (GRCm39) |
missense |
probably benign |
0.03 |
R7027:Vmn2r50
|
UTSW |
7 |
9,781,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
R7343:Vmn2r50
|
UTSW |
7 |
9,784,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7554:Vmn2r50
|
UTSW |
7 |
9,784,066 (GRCm39) |
missense |
probably null |
0.00 |
R7704:Vmn2r50
|
UTSW |
7 |
9,781,665 (GRCm39) |
missense |
probably benign |
0.05 |
R7768:Vmn2r50
|
UTSW |
7 |
9,771,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R7773:Vmn2r50
|
UTSW |
7 |
9,771,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7975:Vmn2r50
|
UTSW |
7 |
9,771,272 (GRCm39) |
missense |
probably benign |
0.39 |
R7987:Vmn2r50
|
UTSW |
7 |
9,772,016 (GRCm39) |
missense |
probably benign |
0.14 |
R7996:Vmn2r50
|
UTSW |
7 |
9,781,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R8062:Vmn2r50
|
UTSW |
7 |
9,774,240 (GRCm39) |
critical splice donor site |
probably null |
|
R8396:Vmn2r50
|
UTSW |
7 |
9,781,639 (GRCm39) |
nonsense |
probably null |
|
R8466:Vmn2r50
|
UTSW |
7 |
9,783,997 (GRCm39) |
missense |
probably damaging |
0.97 |
R8985:Vmn2r50
|
UTSW |
7 |
9,779,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Vmn2r50
|
UTSW |
7 |
9,772,061 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9155:Vmn2r50
|
UTSW |
7 |
9,781,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R9238:Vmn2r50
|
UTSW |
7 |
9,781,503 (GRCm39) |
missense |
probably benign |
0.01 |
R9576:Vmn2r50
|
UTSW |
7 |
9,771,190 (GRCm39) |
missense |
probably benign |
|
R9626:Vmn2r50
|
UTSW |
7 |
9,771,960 (GRCm39) |
nonsense |
probably null |
|
R9631:Vmn2r50
|
UTSW |
7 |
9,786,990 (GRCm39) |
nonsense |
probably null |
|
X0067:Vmn2r50
|
UTSW |
7 |
9,786,954 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Vmn2r50
|
UTSW |
7 |
9,780,086 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Vmn2r50
|
UTSW |
7 |
9,771,427 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCAGGAAGTTCCAGAAAC -3'
(R):5'- TGGGACCAACACCATCATG -3'
Sequencing Primer
(F):5'- GAAACTTAAAGATACCTCCCAATTGG -3'
(R):5'- TCCAGTATAGCATAGAACTTCCACTG -3'
|
Posted On |
2019-05-13 |