Incidental Mutation 'R4515:Vmn2r78'
| ID |
332853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r78
|
| Ensembl Gene |
ENSMUSG00000091962 |
| Gene Name |
vomeronasal 2, receptor 78 |
| Synonyms |
|
| MMRRC Submission |
041589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4515 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86915300-86955177 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86954258 bp (GRCm38)
|
| 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: 99.5%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,647,744 (GRCm38) |
K630N |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,556,363 (GRCm38) |
L335I |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,752,786 (GRCm38) |
|
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,523,847 (GRCm38) |
M984I |
probably benign |
Het |
| Bsn |
G |
T |
9: 108,104,078 (GRCm38) |
|
probably null |
Het |
| Ccdc88a |
T |
C |
11: 29,482,651 (GRCm38) |
I1219T |
probably benign |
Het |
| Cdhr4 |
G |
A |
9: 107,992,951 (GRCm38) |
E52K |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,020,904 (GRCm38) |
N500Y |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,349,877 (GRCm38) |
R1579S |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,385,090 (GRCm38) |
L39P |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,420,284 (GRCm38) |
K319E |
probably damaging |
Het |
| Cnot6 |
C |
T |
11: 49,702,536 (GRCm38) |
|
probably null |
Het |
| Copg1 |
A |
G |
6: 87,907,546 (GRCm38) |
|
probably benign |
Het |
| Dbn1 |
A |
T |
13: 55,476,229 (GRCm38) |
I350N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,465,631 (GRCm38) |
S2135P |
possibly damaging |
Het |
| Dsg2 |
C |
A |
18: 20,601,387 (GRCm38) |
D807E |
probably benign |
Het |
| Fam122c |
G |
A |
X: 53,293,499 (GRCm38) |
R94H |
possibly damaging |
Het |
| Foxi1 |
A |
G |
11: 34,207,972 (GRCm38) |
F18L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 66,093,610 (GRCm38) |
R438L |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,243,571 (GRCm38) |
D25V |
probably damaging |
Het |
| Gm11492 |
A |
G |
11: 87,568,057 (GRCm38) |
H419R |
probably benign |
Het |
| Gm9008 |
C |
T |
6: 76,496,809 (GRCm38) |
V275I |
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,559,008 (GRCm38) |
S1733T |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,367,830 (GRCm38) |
|
probably null |
Het |
| Hemgn |
T |
C |
4: 46,396,477 (GRCm38) |
E253G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,899,649 (GRCm38) |
V47M |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,208,257 (GRCm38) |
V947A |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,489,867 (GRCm38) |
H133R |
probably benign |
Het |
| Lce1l |
T |
C |
3: 92,850,474 (GRCm38) |
T26A |
unknown |
Het |
| Macf1 |
T |
C |
4: 123,493,988 (GRCm38) |
E1172G |
probably damaging |
Het |
| Nkx3-2 |
C |
T |
5: 41,763,938 (GRCm38) |
V3M |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,578,191 (GRCm38) |
T49I |
probably benign |
Het |
| Oc90 |
A |
G |
15: 65,892,393 (GRCm38) |
L138P |
probably damaging |
Het |
| Olfr834 |
T |
G |
9: 18,987,982 (GRCm38) |
|
probably null |
Het |
| Olfr954 |
C |
T |
9: 39,462,231 (GRCm38) |
R264* |
probably null |
Het |
| Orc4 |
G |
A |
2: 48,937,489 (GRCm38) |
P31S |
probably benign |
Het |
| Paqr3 |
T |
A |
5: 97,103,361 (GRCm38) |
N168I |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,091,379 (GRCm38) |
I415N |
probably damaging |
Het |
| Pdik1l |
T |
C |
4: 134,278,896 (GRCm38) |
N75S |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,672,725 (GRCm38) |
H1005R |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,225,531 (GRCm38) |
S109G |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,702,838 (GRCm38) |
T402A |
possibly damaging |
Het |
| Ptger4 |
C |
A |
15: 5,242,379 (GRCm38) |
R253L |
probably damaging |
Het |
| Rabac1 |
A |
T |
7: 24,970,160 (GRCm38) |
Y173* |
probably null |
Het |
| Rapsn |
G |
A |
2: 91,043,212 (GRCm38) |
V288M |
possibly damaging |
Het |
| Sec31a |
A |
G |
5: 100,365,958 (GRCm38) |
S993P |
probably damaging |
Het |
| Serpina9 |
T |
A |
12: 104,001,294 (GRCm38) |
M281L |
probably benign |
Het |
| Serpine1 |
G |
A |
5: 137,069,468 (GRCm38) |
A117V |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 61,987,693 (GRCm38) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 125,492,226 (GRCm38) |
D124G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,353,530 (GRCm38) |
|
probably null |
Het |
| Stk11 |
A |
G |
10: 80,116,601 (GRCm38) |
|
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,589,996 (GRCm38) |
Y720H |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 72,572,161 (GRCm38) |
P20S |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,420,196 (GRCm38) |
R224K |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,957,356 (GRCm38) |
S988N |
probably benign |
Het |
| Txn2 |
A |
T |
15: 77,915,443 (GRCm38) |
|
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 88,056,197 (GRCm38) |
V239E |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,681,213 (GRCm38) |
Y534C |
probably damaging |
Het |
|
| Other mutations in Vmn2r78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Vmn2r78
|
APN |
7 |
86,915,361 (GRCm38) |
missense |
unknown |
|
|
IGL01473:Vmn2r78
|
APN |
7 |
86,920,312 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL01767:Vmn2r78
|
APN |
7 |
86,954,435 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL02322:Vmn2r78
|
APN |
7 |
86,921,479 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02537:Vmn2r78
|
APN |
7 |
86,954,288 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03297:Vmn2r78
|
APN |
7 |
86,920,761 (GRCm38) |
nonsense |
probably null |
|
|
ANU74:Vmn2r78
|
UTSW |
7 |
86,921,065 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0035:Vmn2r78
|
UTSW |
7 |
86,920,205 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0081:Vmn2r78
|
UTSW |
7 |
86,923,027 (GRCm38) |
missense |
probably benign |
0.35 |
|
R0401:Vmn2r78
|
UTSW |
7 |
86,921,311 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0751:Vmn2r78
|
UTSW |
7 |
86,954,380 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1341:Vmn2r78
|
UTSW |
7 |
86,922,269 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1386:Vmn2r78
|
UTSW |
7 |
86,915,407 (GRCm38) |
missense |
unknown |
|
|
R1526:Vmn2r78
|
UTSW |
7 |
86,922,257 (GRCm38) |
splice site |
probably null |
|
|
R1712:Vmn2r78
|
UTSW |
7 |
86,954,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1739:Vmn2r78
|
UTSW |
7 |
86,920,789 (GRCm38) |
missense |
probably benign |
|
|
R1812:Vmn2r78
|
UTSW |
7 |
86,920,787 (GRCm38) |
missense |
probably benign |
0.38 |
|
R2011:Vmn2r78
|
UTSW |
7 |
86,955,079 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R2144:Vmn2r78
|
UTSW |
7 |
86,954,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2197:Vmn2r78
|
UTSW |
7 |
86,921,327 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2291:Vmn2r78
|
UTSW |
7 |
86,920,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2409:Vmn2r78
|
UTSW |
7 |
86,920,745 (GRCm38) |
splice site |
probably benign |
|
|
R3023:Vmn2r78
|
UTSW |
7 |
86,954,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4486:Vmn2r78
|
UTSW |
7 |
86,920,751 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4512:Vmn2r78
|
UTSW |
7 |
86,920,244 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4544:Vmn2r78
|
UTSW |
7 |
86,921,191 (GRCm38) |
missense |
probably benign |
|
|
R4546:Vmn2r78
|
UTSW |
7 |
86,954,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4872:Vmn2r78
|
UTSW |
7 |
86,954,708 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4928:Vmn2r78
|
UTSW |
7 |
86,954,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5101:Vmn2r78
|
UTSW |
7 |
86,922,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5265:Vmn2r78
|
UTSW |
7 |
86,920,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5328:Vmn2r78
|
UTSW |
7 |
86,921,030 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5442:Vmn2r78
|
UTSW |
7 |
86,920,122 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5567:Vmn2r78
|
UTSW |
7 |
86,921,529 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5572:Vmn2r78
|
UTSW |
7 |
86,915,512 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5636:Vmn2r78
|
UTSW |
7 |
86,954,429 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5901:Vmn2r78
|
UTSW |
7 |
86,954,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5977:Vmn2r78
|
UTSW |
7 |
86,954,907 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5977:Vmn2r78
|
UTSW |
7 |
86,920,333 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R6276:Vmn2r78
|
UTSW |
7 |
86,921,110 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6386:Vmn2r78
|
UTSW |
7 |
86,922,337 (GRCm38) |
nonsense |
probably null |
|
|
R6724:Vmn2r78
|
UTSW |
7 |
86,954,258 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6852:Vmn2r78
|
UTSW |
7 |
86,954,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6896:Vmn2r78
|
UTSW |
7 |
86,922,350 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7385:Vmn2r78
|
UTSW |
7 |
86,922,425 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7578:Vmn2r78
|
UTSW |
7 |
86,954,344 (GRCm38) |
nonsense |
probably null |
|
|
R7680:Vmn2r78
|
UTSW |
7 |
86,954,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7748:Vmn2r78
|
UTSW |
7 |
86,921,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7852:Vmn2r78
|
UTSW |
7 |
86,920,170 (GRCm38) |
nonsense |
probably null |
|
|
R8031:Vmn2r78
|
UTSW |
7 |
86,954,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8070:Vmn2r78
|
UTSW |
7 |
86,922,487 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8085:Vmn2r78
|
UTSW |
7 |
86,954,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8163:Vmn2r78
|
UTSW |
7 |
86,954,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8501:Vmn2r78
|
UTSW |
7 |
86,920,886 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8749:Vmn2r78
|
UTSW |
7 |
86,954,305 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9209:Vmn2r78
|
UTSW |
7 |
86,920,223 (GRCm38) |
missense |
probably benign |
0.08 |
|
RF018:Vmn2r78
|
UTSW |
7 |
86,954,431 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Vmn2r78
|
UTSW |
7 |
86,954,774 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Vmn2r78
|
UTSW |
7 |
86,921,207 (GRCm38) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAGCATTGGAAATTAAGATCAC -3'
(R):5'- GACATAGCTGAGAGTTTCATTATTGGC -3'
Sequencing Primer
(F):5'- GCATCTAAAACAAGATGTCAG -3'
(R):5'- AGTGTCTCGGTGTTTCAAGAAGAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation