Incidental Mutation 'R5572:Vmn2r78'
ID |
435734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
043266-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R5572 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86564720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 55
(K55R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170835
AA Change: K55R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: K55R
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
C |
T |
5: 8,765,108 (GRCm39) |
|
probably null |
Het |
Abcd4 |
T |
C |
12: 84,653,050 (GRCm39) |
D380G |
probably benign |
Het |
Actr3b |
T |
A |
5: 26,014,886 (GRCm39) |
D68E |
probably benign |
Het |
Apol10a |
T |
C |
15: 77,372,834 (GRCm39) |
S157P |
probably damaging |
Het |
Arap3 |
A |
T |
18: 38,124,119 (GRCm39) |
I327N |
probably damaging |
Het |
Arnt |
G |
T |
3: 95,382,015 (GRCm39) |
V198L |
possibly damaging |
Het |
Baiap3 |
T |
A |
17: 25,470,449 (GRCm39) |
D86V |
possibly damaging |
Het |
Bcl9l |
G |
T |
9: 44,412,095 (GRCm39) |
R27L |
possibly damaging |
Het |
Bltp2 |
A |
T |
11: 78,155,393 (GRCm39) |
D167V |
probably damaging |
Het |
C1qc |
T |
C |
4: 136,619,773 (GRCm39) |
Y34C |
probably benign |
Het |
C1rb |
T |
C |
6: 124,557,758 (GRCm39) |
S632P |
probably benign |
Het |
C3 |
A |
G |
17: 57,531,673 (GRCm39) |
S284P |
probably damaging |
Het |
Cfap44 |
T |
G |
16: 44,301,668 (GRCm39) |
V1802G |
possibly damaging |
Het |
Cfhr1 |
A |
G |
1: 139,484,165 (GRCm39) |
V117A |
possibly damaging |
Het |
Clca3b |
T |
C |
3: 144,533,070 (GRCm39) |
D654G |
probably damaging |
Het |
Col17a1 |
A |
T |
19: 47,639,168 (GRCm39) |
S1126T |
probably benign |
Het |
Cts3 |
T |
A |
13: 61,712,782 (GRCm39) |
I313F |
probably damaging |
Het |
Egfl7 |
T |
C |
2: 26,481,703 (GRCm39) |
V6A |
possibly damaging |
Het |
Eif2s3y |
G |
A |
Y: 1,016,631 (GRCm39) |
D272N |
probably damaging |
Het |
Foxp4 |
A |
G |
17: 48,191,804 (GRCm39) |
V111A |
unknown |
Het |
Hmcn2 |
A |
T |
2: 31,304,537 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
G |
A |
2: 31,304,538 (GRCm39) |
|
probably null |
Het |
Igsf11 |
C |
T |
16: 38,845,294 (GRCm39) |
R283C |
probably damaging |
Het |
Il1a |
A |
G |
2: 129,149,838 (GRCm39) |
Y21H |
possibly damaging |
Het |
Il6ra |
A |
T |
3: 89,778,589 (GRCm39) |
V420D |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,389,336 (GRCm39) |
V921A |
possibly damaging |
Het |
Kirrel3 |
G |
A |
9: 34,912,244 (GRCm39) |
A196T |
probably damaging |
Het |
Klra1 |
T |
A |
6: 130,349,802 (GRCm39) |
D212V |
possibly damaging |
Het |
N4bp2l2 |
G |
A |
5: 150,585,755 (GRCm39) |
T75I |
probably benign |
Het |
Niban1 |
T |
C |
1: 151,584,941 (GRCm39) |
S513P |
probably benign |
Het |
Nnmt |
A |
G |
9: 48,503,447 (GRCm39) |
L193P |
probably damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Ntm |
A |
G |
9: 28,925,512 (GRCm39) |
I191T |
probably damaging |
Het |
Or2ak5 |
A |
G |
11: 58,611,055 (GRCm39) |
V273A |
probably benign |
Het |
Or52d13 |
A |
C |
7: 103,109,905 (GRCm39) |
L170R |
probably benign |
Het |
Or52h7 |
A |
T |
7: 104,214,201 (GRCm39) |
T258S |
probably benign |
Het |
Pam |
A |
C |
1: 97,782,469 (GRCm39) |
|
probably benign |
Het |
Pomk |
T |
A |
8: 26,473,218 (GRCm39) |
H245L |
possibly damaging |
Het |
Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
Rasip1 |
G |
T |
7: 45,286,153 (GRCm39) |
R792L |
probably benign |
Het |
Ret |
T |
C |
6: 118,132,392 (GRCm39) |
Y1016C |
probably damaging |
Het |
Rhbdd1 |
A |
T |
1: 82,318,531 (GRCm39) |
N138I |
possibly damaging |
Het |
Snx13 |
T |
G |
12: 35,153,119 (GRCm39) |
V383G |
probably damaging |
Het |
Syt3 |
A |
G |
7: 44,040,142 (GRCm39) |
H125R |
probably benign |
Het |
Tlr6 |
A |
T |
5: 65,112,361 (GRCm39) |
L182Q |
probably damaging |
Het |
Tlr9 |
T |
C |
9: 106,102,836 (GRCm39) |
V709A |
possibly damaging |
Het |
Tmprss6 |
T |
C |
15: 78,326,622 (GRCm39) |
Y655C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,683,972 (GRCm39) |
|
probably benign |
Het |
Ube3a |
T |
C |
7: 58,938,525 (GRCm39) |
I761T |
probably damaging |
Het |
Ube3b |
G |
A |
5: 114,544,240 (GRCm39) |
D546N |
probably damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,237,341 (GRCm39) |
V188A |
possibly damaging |
Het |
Usp29 |
A |
G |
7: 6,965,191 (GRCm39) |
I345V |
probably benign |
Het |
Wdsub1 |
A |
G |
2: 59,693,051 (GRCm39) |
F288L |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,392,693 (GRCm39) |
V4601M |
unknown |
Het |
Zbtb8b |
T |
C |
4: 129,322,334 (GRCm39) |
K376E |
probably damaging |
Het |
Zfp619 |
A |
T |
7: 39,184,663 (GRCm39) |
Y231F |
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 |
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 |
|
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'- ACCTATCTTGGTGATGTGGC -3'
(R):5'- CTGCATCTAACTAGTTTGTGATTCG -3'
Sequencing Primer
(F):5'- CCTATCTTGGTGATGTGGCAAAGATG -3'
(R):5'- TTGGAAAAATGACCAGCTGTG -3'
|
Posted On |
2016-10-24 |