Incidental Mutation 'R5977:Vmn2r78'
ID |
481189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
044159-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R5977 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86604115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 764
(N764K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170835
AA Change: N764K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: N764K
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,451,106 (GRCm39) |
R446S |
probably damaging |
Het |
2900092C05Rik |
A |
T |
7: 12,288,664 (GRCm39) |
H159L |
probably benign |
Het |
4933405O20Rik |
G |
A |
7: 50,249,838 (GRCm39) |
V291I |
probably damaging |
Het |
A2ml1 |
A |
G |
6: 128,558,085 (GRCm39) |
Y24H |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,583,678 (GRCm39) |
|
probably null |
Het |
Ankrd52 |
C |
T |
10: 128,218,566 (GRCm39) |
H351Y |
probably damaging |
Het |
Anks6 |
C |
A |
4: 47,035,748 (GRCm39) |
A588S |
probably benign |
Het |
Arl15 |
T |
G |
13: 114,070,645 (GRCm39) |
V80G |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,904,628 (GRCm39) |
I532T |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,910,031 (GRCm39) |
C1475R |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,253,719 (GRCm39) |
R394Q |
probably damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,359,697 (GRCm39) |
I254T |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,803,447 (GRCm39) |
T827A |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,749,571 (GRCm39) |
V421A |
possibly damaging |
Het |
Cped1 |
T |
C |
6: 22,254,607 (GRCm39) |
V1000A |
probably damaging |
Het |
Cr1l |
A |
T |
1: 194,797,076 (GRCm39) |
Y282* |
probably null |
Het |
Cryl1 |
G |
T |
14: 57,620,236 (GRCm39) |
T43K |
probably benign |
Het |
Csmd2 |
C |
T |
4: 127,952,827 (GRCm39) |
P92L |
probably damaging |
Het |
Ddx60 |
G |
A |
8: 62,474,444 (GRCm39) |
|
probably null |
Het |
Dhrs7b |
C |
T |
11: 60,743,328 (GRCm39) |
R187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,451 (GRCm39) |
T88A |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,411,707 (GRCm39) |
E305G |
possibly damaging |
Het |
Dscaml1 |
A |
C |
9: 45,632,596 (GRCm39) |
N1154T |
probably benign |
Het |
Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
Egflam |
T |
A |
15: 7,347,726 (GRCm39) |
Y68F |
possibly damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,603 (GRCm39) |
V382A |
probably damaging |
Het |
Gm18358 |
A |
G |
7: 84,739,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm3443 |
T |
G |
19: 21,534,960 (GRCm39) |
I75S |
probably benign |
Het |
Gpr182 |
C |
A |
10: 127,586,748 (GRCm39) |
V68F |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,340,604 (GRCm39) |
M1651K |
possibly damaging |
Het |
Hey1 |
A |
T |
3: 8,731,418 (GRCm39) |
|
probably null |
Het |
Ighv1-43 |
A |
C |
12: 114,909,829 (GRCm39) |
V31G |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,459,692 (GRCm39) |
V450A |
probably damaging |
Het |
Kbtbd4 |
T |
G |
2: 90,736,487 (GRCm39) |
V166G |
probably benign |
Het |
Marveld2 |
T |
C |
13: 100,748,197 (GRCm39) |
N294S |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,099,720 (GRCm39) |
K61E |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,350,104 (GRCm39) |
S616P |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,973,866 (GRCm39) |
L1292P |
probably damaging |
Het |
Nek8 |
C |
T |
11: 78,058,651 (GRCm39) |
V550M |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,159,721 (GRCm39) |
|
probably null |
Het |
Or2y17 |
G |
A |
11: 49,231,592 (GRCm39) |
V78M |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,572 (GRCm39) |
M59K |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Papln |
G |
A |
12: 83,831,143 (GRCm39) |
W1099* |
probably null |
Het |
Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
Pramel12 |
T |
C |
4: 143,144,229 (GRCm39) |
Y192H |
probably benign |
Het |
Prss39 |
T |
G |
1: 34,541,783 (GRCm39) |
C287G |
probably damaging |
Het |
Pyroxd2 |
A |
G |
19: 42,723,911 (GRCm39) |
V338A |
probably damaging |
Het |
Rab19 |
T |
A |
6: 39,360,860 (GRCm39) |
F3I |
probably benign |
Het |
Relt |
A |
G |
7: 100,512,355 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
A |
7: 109,977,193 (GRCm39) |
H647L |
probably benign |
Het |
Scube1 |
C |
T |
15: 83,513,689 (GRCm39) |
C327Y |
probably damaging |
Het |
Sec14l4 |
A |
C |
11: 3,990,055 (GRCm39) |
Q118P |
possibly damaging |
Het |
Shisa9 |
C |
G |
16: 12,085,292 (GRCm39) |
D300E |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,740,580 (GRCm39) |
|
probably benign |
Het |
Sncaip |
A |
G |
18: 53,002,393 (GRCm39) |
T305A |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,784,889 (GRCm39) |
V1104A |
probably damaging |
Het |
Ugt1a6b |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Unc119b |
A |
G |
5: 115,268,612 (GRCm39) |
V91A |
probably benign |
Het |
Uvssa |
A |
G |
5: 33,547,204 (GRCm39) |
K257E |
probably damaging |
Het |
Vmn1r199 |
A |
C |
13: 22,567,416 (GRCm39) |
M237L |
probably benign |
Het |
Vmn1r69 |
G |
A |
7: 10,314,417 (GRCm39) |
R26W |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,366,143 (GRCm39) |
F264L |
probably damaging |
Het |
Vmn2r7 |
C |
T |
3: 64,623,464 (GRCm39) |
W285* |
probably null |
Het |
Wdr5b |
T |
G |
16: 35,862,374 (GRCm39) |
H164Q |
probably damaging |
Het |
Zcchc7 |
G |
A |
4: 44,894,982 (GRCm39) |
V236I |
possibly damaging |
Het |
Zfp729b |
G |
A |
13: 67,739,740 (GRCm39) |
R842C |
probably benign |
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 |
86,569,541 (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 |
|
R6724:Vmn2r78
|
UTSW |
7 |
86,603,466 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AGGTGGCTGCTACTTTCAGG -3'
(R):5'- AAATAAGGTAGCACTTTGGCAC -3'
Sequencing Primer
(F):5'- CAAATGATTCTCTGTGGAATCTGGC -3'
(R):5'- TGGCACAAATATGCAAAGAAGCATC -3'
|
Posted On |
2017-06-26 |