Incidental Mutation 'R5636:Vmn2r78'
| ID |
440372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r78
|
| Ensembl Gene |
ENSMUSG00000091962 |
| Gene Name |
vomeronasal 2, receptor 78 |
| Synonyms |
|
| MMRRC Submission |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
86915300-86955177 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86954429 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 605
(H605R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
| AlphaFold |
K7N6U5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170835
AA Change: H605R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126698
Gene: ENSMUSG00000091962
AA Change: H605R
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,944,982 (GRCm38) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,301,536 (GRCm38) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,672,056 (GRCm38) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,869,025 (GRCm38) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,428,309 (GRCm38) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,704,372 (GRCm38) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 75,037,933 (GRCm38) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,288,219 (GRCm38) |
Y74C |
probably damaging |
Het |
| Atp6v0b |
T |
C |
4: 117,886,385 (GRCm38) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,388,825 (GRCm38) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,602,723 (GRCm38) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,014,442 (GRCm38) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,033,742 (GRCm38) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,438,306 (GRCm38) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 17,948,585 (GRCm38) |
R41C |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,282,481 (GRCm38) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,511,018 (GRCm38) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,956,686 (GRCm38) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,722,058 (GRCm38) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,130,945 (GRCm38) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,163,456 (GRCm38) |
P2047S |
possibly damaging |
Het |
| Islr2 |
T |
C |
9: 58,201,301 (GRCm38) |
T35A |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,987,078 (GRCm38) |
D644G |
probably benign |
Het |
| Lrrc6 |
A |
T |
15: 66,500,816 (GRCm38) |
|
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm38) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,901,240 (GRCm38) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 48,198,470 (GRCm38) |
C237R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,797,528 (GRCm38) |
M264T |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,502,676 (GRCm38) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,225,294 (GRCm38) |
L1010Q |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,349,399 (GRCm38) |
K145M |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,648,188 (GRCm38) |
K755* |
probably null |
Het |
| Olfr1501 |
C |
T |
19: 13,838,337 (GRCm38) |
V279M |
possibly damaging |
Het |
| Olfr332 |
T |
C |
11: 58,490,051 (GRCm38) |
K235E |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,461,560 (GRCm38) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 50,956,192 (GRCm38) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 109,038,820 (GRCm38) |
T242I |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,436,629 (GRCm38) |
R1814K |
probably benign |
Het |
| Rnf213 |
A |
C |
11: 119,436,905 (GRCm38) |
Q1906P |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,997,954 (GRCm38) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,380,594 (GRCm38) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,275,014 (GRCm38) |
Q88R |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 54,997,193 (GRCm38) |
D907G |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,950,193 (GRCm38) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,554,216 (GRCm38) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,517,829 (GRCm38) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 94,069,012 (GRCm38) |
D342E |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 120,057,404 (GRCm38) |
|
probably benign |
Het |
| Stam |
G |
T |
2: 14,117,427 (GRCm38) |
M112I |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 157,100,224 (GRCm38) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm38) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,696,909 (GRCm38) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,983,996 (GRCm38) |
K2302N |
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 |
|
R4515:Vmn2r78
|
UTSW |
7 |
86,954,258 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CAATGTGTGAAGTGTCCAGAGG -3'
(R):5'- TAGCAGCCACCTCAGTCTTC -3'
Sequencing Primer
(F):5'- GGATGAGTATGCCAACACTGATC -3'
(R):5'- TCTTGGCTAAGACACAAGAGGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation