Incidental Mutation 'R6724:Vmn2r78'
ID |
529763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
044842-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R6724 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86603466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 548
(D548V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170835
AA Change: D548V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: D548V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
75 |
464 |
5.9e-31 |
PFAM |
Pfam:NCD3G
|
507 |
559 |
8.1e-21 |
PFAM |
Pfam:7tm_3
|
592 |
827 |
1e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
T |
A |
16: 85,665,445 (GRCm39) |
T619S |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,604,210 (GRCm39) |
A467T |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,391,509 (GRCm39) |
I416N |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,862,733 (GRCm39) |
|
probably null |
Het |
Cftr |
T |
A |
6: 18,255,973 (GRCm39) |
Y567* |
probably null |
Het |
Cnr1 |
T |
A |
4: 33,944,728 (GRCm39) |
M372K |
possibly damaging |
Het |
Col6a3 |
T |
C |
1: 90,706,874 (GRCm39) |
T2080A |
unknown |
Het |
Crybg3 |
A |
T |
16: 59,364,501 (GRCm39) |
C2374S |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,457,164 (GRCm39) |
I3544V |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,518,180 (GRCm39) |
D1809V |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnajb12 |
A |
G |
10: 59,728,602 (GRCm39) |
D190G |
possibly damaging |
Het |
Dtnb |
T |
A |
12: 3,736,817 (GRCm39) |
V319D |
probably damaging |
Het |
Eif1ad6 |
A |
T |
12: 87,668,754 (GRCm39) |
I129F |
unknown |
Het |
Ercc6 |
A |
T |
14: 32,288,288 (GRCm39) |
E820V |
probably benign |
Het |
Fip1l1 |
T |
G |
5: 74,752,435 (GRCm39) |
V378G |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,911,552 (GRCm39) |
Y358F |
possibly damaging |
Het |
Gcn1 |
T |
G |
5: 115,747,217 (GRCm39) |
|
probably null |
Het |
Gm11011 |
T |
A |
2: 169,429,402 (GRCm39) |
T28S |
unknown |
Het |
Guf1 |
C |
A |
5: 69,723,736 (GRCm39) |
N438K |
probably damaging |
Het |
Hoxa7 |
T |
C |
6: 52,192,719 (GRCm39) |
E223G |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,711,473 (GRCm39) |
|
probably null |
Het |
Isl2 |
A |
G |
9: 55,448,572 (GRCm39) |
D3G |
possibly damaging |
Het |
Kcnb2 |
A |
G |
1: 15,780,664 (GRCm39) |
Y512C |
probably damaging |
Het |
Kifc1 |
T |
A |
17: 34,105,707 (GRCm39) |
|
probably null |
Het |
Klhdc10 |
A |
G |
6: 30,446,640 (GRCm39) |
D183G |
probably damaging |
Het |
Klra5 |
T |
A |
6: 129,883,643 (GRCm39) |
K71N |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,463,504 (GRCm39) |
H559R |
possibly damaging |
Het |
Maml3 |
T |
C |
3: 51,763,296 (GRCm39) |
N556S |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 65,038,264 (GRCm39) |
I83V |
possibly damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,884,786 (GRCm39) |
S293P |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,535,479 (GRCm39) |
S1282P |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,096,828 (GRCm39) |
|
probably benign |
Het |
Or4a72 |
A |
T |
2: 89,405,309 (GRCm39) |
F254I |
probably benign |
Het |
Or4c108 |
T |
G |
2: 88,803,612 (GRCm39) |
I208L |
probably benign |
Het |
Or8u10 |
A |
T |
2: 85,915,701 (GRCm39) |
V140E |
possibly damaging |
Het |
Or9m1 |
T |
G |
2: 87,733,946 (GRCm39) |
S25R |
probably benign |
Het |
Pkn3 |
C |
A |
2: 29,980,562 (GRCm39) |
R818S |
possibly damaging |
Het |
Plekha3 |
T |
A |
2: 76,517,745 (GRCm39) |
H190Q |
probably damaging |
Het |
Ppp2r3c |
A |
T |
12: 55,335,281 (GRCm39) |
S261T |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,281,195 (GRCm39) |
D1015G |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,679,037 (GRCm39) |
M503T |
possibly damaging |
Het |
Pvr |
T |
C |
7: 19,652,604 (GRCm39) |
R104G |
possibly damaging |
Het |
Rubcnl |
A |
G |
14: 75,289,450 (GRCm39) |
R653G |
probably benign |
Het |
Semp2l2a |
A |
T |
8: 13,887,083 (GRCm39) |
L336Q |
probably damaging |
Het |
Serpina1a |
G |
T |
12: 103,826,679 (GRCm39) |
|
probably benign |
Het |
Shank3 |
G |
A |
15: 89,416,656 (GRCm39) |
R265Q |
probably damaging |
Het |
Slc22a22 |
C |
T |
15: 57,110,928 (GRCm39) |
R433H |
probably damaging |
Het |
Slc22a26 |
A |
G |
19: 7,779,726 (GRCm39) |
I30T |
probably benign |
Het |
Spz1 |
A |
T |
13: 92,711,992 (GRCm39) |
N161K |
possibly damaging |
Het |
Tacc2 |
A |
G |
7: 130,330,492 (GRCm39) |
R259G |
probably damaging |
Het |
Top1 |
G |
A |
2: 160,554,616 (GRCm39) |
V456M |
probably damaging |
Het |
Tpcn2 |
G |
A |
7: 144,810,257 (GRCm39) |
A649V |
probably benign |
Het |
Trank1 |
C |
G |
9: 111,194,984 (GRCm39) |
R1003G |
probably damaging |
Het |
Tril |
T |
A |
6: 53,796,559 (GRCm39) |
H221L |
possibly damaging |
Het |
Unc79 |
C |
T |
12: 103,071,120 (GRCm39) |
T1305I |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,722,350 (GRCm39) |
A2988V |
possibly damaging |
Het |
Vinac1 |
A |
C |
2: 128,879,976 (GRCm39) |
V650G |
probably benign |
Het |
Vmn1r81 |
A |
T |
7: 11,994,599 (GRCm39) |
M3K |
probably damaging |
Het |
Vwa3b |
G |
A |
1: 37,084,112 (GRCm39) |
R95Q |
probably damaging |
Het |
Wdr6 |
G |
A |
9: 108,452,093 (GRCm39) |
H597Y |
probably benign |
Het |
Yme1l1 |
C |
T |
2: 23,084,774 (GRCm39) |
T624I |
probably damaging |
Het |
|
Other mutations in Vmn2r78 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01302:Vmn2r78
|
APN |
7 |
86,564,569 (GRCm39) |
missense |
unknown |
|
IGL01473:Vmn2r78
|
APN |
7 |
86,569,520 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01767:Vmn2r78
|
APN |
7 |
86,603,643 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02322:Vmn2r78
|
APN |
7 |
86,570,687 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02537:Vmn2r78
|
APN |
7 |
86,603,496 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03297:Vmn2r78
|
APN |
7 |
86,569,969 (GRCm39) |
nonsense |
probably null |
|
ANU74:Vmn2r78
|
UTSW |
7 |
86,570,273 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0035:Vmn2r78
|
UTSW |
7 |
86,569,413 (GRCm39) |
missense |
probably benign |
0.22 |
R0081:Vmn2r78
|
UTSW |
7 |
86,572,235 (GRCm39) |
missense |
probably benign |
0.35 |
R0401:Vmn2r78
|
UTSW |
7 |
86,570,519 (GRCm39) |
missense |
probably benign |
0.04 |
R0751:Vmn2r78
|
UTSW |
7 |
86,603,588 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1341:Vmn2r78
|
UTSW |
7 |
86,571,477 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1386:Vmn2r78
|
UTSW |
7 |
86,564,615 (GRCm39) |
missense |
unknown |
|
R1526:Vmn2r78
|
UTSW |
7 |
86,571,465 (GRCm39) |
splice site |
probably null |
|
R1712:Vmn2r78
|
UTSW |
7 |
86,604,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Vmn2r78
|
UTSW |
7 |
86,569,997 (GRCm39) |
missense |
probably benign |
|
R1812:Vmn2r78
|
UTSW |
7 |
86,569,995 (GRCm39) |
missense |
probably benign |
0.38 |
R2011:Vmn2r78
|
UTSW |
7 |
86,604,287 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2144:Vmn2r78
|
UTSW |
7 |
86,603,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R2197:Vmn2r78
|
UTSW |
7 |
86,570,535 (GRCm39) |
missense |
probably damaging |
0.96 |
R2291:Vmn2r78
|
UTSW |
7 |
86,569,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Vmn2r78
|
UTSW |
7 |
86,569,953 (GRCm39) |
splice site |
probably benign |
|
R3023:Vmn2r78
|
UTSW |
7 |
86,604,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:Vmn2r78
|
UTSW |
7 |
86,569,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4512:Vmn2r78
|
UTSW |
7 |
86,569,452 (GRCm39) |
missense |
probably benign |
0.00 |
R4515:Vmn2r78
|
UTSW |
7 |
86,603,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R4544:Vmn2r78
|
UTSW |
7 |
86,570,399 (GRCm39) |
missense |
probably benign |
|
R4546:Vmn2r78
|
UTSW |
7 |
86,603,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Vmn2r78
|
UTSW |
7 |
86,603,916 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4928:Vmn2r78
|
UTSW |
7 |
86,603,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Vmn2r78
|
UTSW |
7 |
86,571,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R5265:Vmn2r78
|
UTSW |
7 |
86,569,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Vmn2r78
|
UTSW |
7 |
86,570,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R5442:Vmn2r78
|
UTSW |
7 |
86,569,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5567:Vmn2r78
|
UTSW |
7 |
86,570,737 (GRCm39) |
missense |
probably benign |
0.17 |
R5572:Vmn2r78
|
UTSW |
7 |
86,564,720 (GRCm39) |
missense |
probably benign |
0.01 |
R5636:Vmn2r78
|
UTSW |
7 |
86,603,637 (GRCm39) |
missense |
probably damaging |
0.99 |
R5901:Vmn2r78
|
UTSW |
7 |
86,603,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Vmn2r78
|
UTSW |
7 |
86,604,115 (GRCm39) |
missense |
probably benign |
0.00 |
R5977:Vmn2r78
|
UTSW |
7 |
86,569,541 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6276:Vmn2r78
|
UTSW |
7 |
86,570,318 (GRCm39) |
missense |
probably benign |
0.00 |
R6386:Vmn2r78
|
UTSW |
7 |
86,571,545 (GRCm39) |
nonsense |
probably null |
|
R6852:Vmn2r78
|
UTSW |
7 |
86,603,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R6896:Vmn2r78
|
UTSW |
7 |
86,571,558 (GRCm39) |
missense |
probably benign |
0.10 |
R7385:Vmn2r78
|
UTSW |
7 |
86,571,633 (GRCm39) |
missense |
probably benign |
0.18 |
R7578:Vmn2r78
|
UTSW |
7 |
86,603,552 (GRCm39) |
nonsense |
probably null |
|
R7680:Vmn2r78
|
UTSW |
7 |
86,604,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Vmn2r78
|
UTSW |
7 |
86,570,343 (GRCm39) |
missense |
probably benign |
0.00 |
R7852:Vmn2r78
|
UTSW |
7 |
86,569,378 (GRCm39) |
nonsense |
probably null |
|
R8031:Vmn2r78
|
UTSW |
7 |
86,604,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Vmn2r78
|
UTSW |
7 |
86,571,695 (GRCm39) |
missense |
probably benign |
0.01 |
R8085:Vmn2r78
|
UTSW |
7 |
86,603,998 (GRCm39) |
missense |
probably benign |
0.00 |
R8163:Vmn2r78
|
UTSW |
7 |
86,603,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R8501:Vmn2r78
|
UTSW |
7 |
86,570,094 (GRCm39) |
missense |
probably damaging |
0.99 |
R8749:Vmn2r78
|
UTSW |
7 |
86,603,513 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9209:Vmn2r78
|
UTSW |
7 |
86,569,431 (GRCm39) |
missense |
probably benign |
0.08 |
RF018:Vmn2r78
|
UTSW |
7 |
86,603,639 (GRCm39) |
nonsense |
probably null |
|
Z1177:Vmn2r78
|
UTSW |
7 |
86,603,982 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Vmn2r78
|
UTSW |
7 |
86,570,415 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGCATTGGAAATTAAGATCAC -3'
(R):5'- GGACATAGCTGAGAGTTTCATTATTGG -3'
Sequencing Primer
(F):5'- GCATCTAAAACAAGATGTCAG -3'
(R):5'- AGTGTCTCGGTGTTTCAAGAAGAC -3'
|
Posted On |
2018-08-01 |