Incidental Mutation 'R8163:Vmn2r78'
| ID |
633621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r78
|
| Ensembl Gene |
ENSMUSG00000091962 |
| Gene Name |
vomeronasal 2, receptor 78 |
| Synonyms |
|
| MMRRC Submission |
067589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86603660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 613
(A613T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
| AlphaFold |
K7N6U5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170835
AA Change: A613T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126698
Gene: ENSMUSG00000091962
AA Change: A613T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930022D16Rik |
A |
G |
11: 109,304,883 (GRCm39) |
I11V |
unknown |
Het |
| Ago3 |
G |
T |
4: 126,262,377 (GRCm39) |
T391K |
probably benign |
Het |
| Asap1 |
A |
G |
15: 63,963,899 (GRCm39) |
W1100R |
probably damaging |
Het |
| Bbof1 |
T |
C |
12: 84,473,536 (GRCm39) |
S289P |
possibly damaging |
Het |
| Cd3d |
T |
C |
9: 44,896,952 (GRCm39) |
F109L |
probably benign |
Het |
| Cebpd |
A |
T |
16: 15,705,841 (GRCm39) |
E218V |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,543,528 (GRCm39) |
|
probably benign |
Het |
| Cpa2 |
A |
C |
6: 30,564,350 (GRCm39) |
I394L |
probably damaging |
Het |
| Ddx50 |
C |
A |
10: 62,475,678 (GRCm39) |
V348F |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Echs1 |
A |
G |
7: 139,692,357 (GRCm39) |
V130A |
possibly damaging |
Het |
| Eif2s2 |
A |
G |
2: 154,734,621 (GRCm39) |
S2P |
probably benign |
Het |
| Fastk |
A |
G |
5: 24,649,273 (GRCm39) |
I38T |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,055 (GRCm39) |
R3779C |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,881 (GRCm39) |
N2511I |
possibly damaging |
Het |
| Fbxw13 |
G |
A |
9: 109,012,122 (GRCm39) |
T315I |
probably benign |
Het |
| Fzd5 |
A |
T |
1: 64,774,352 (GRCm39) |
Y470N |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gpr25 |
T |
C |
1: 136,187,596 (GRCm39) |
D339G |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,233,907 (GRCm39) |
|
probably null |
Het |
| Il5 |
T |
A |
11: 53,614,813 (GRCm39) |
M125K |
possibly damaging |
Het |
| Iqub |
G |
A |
6: 24,449,714 (GRCm39) |
T717I |
probably benign |
Het |
| Katnb1 |
T |
C |
8: 95,823,014 (GRCm39) |
F403S |
probably damaging |
Het |
| Krt26 |
T |
C |
11: 99,220,498 (GRCm39) |
I451V |
probably benign |
Het |
| Krt88 |
T |
C |
15: 101,351,389 (GRCm39) |
L132P |
probably damaging |
Het |
| Kynu |
G |
T |
2: 43,518,966 (GRCm39) |
G245V |
probably damaging |
Het |
| Lap3 |
C |
T |
5: 45,669,389 (GRCm39) |
R513* |
probably null |
Het |
| Lin9 |
C |
T |
1: 180,486,691 (GRCm39) |
R126W |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,506,688 (GRCm39) |
I1760K |
unknown |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,777 (GRCm39) |
R175H |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,584,774 (GRCm39) |
L60P |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,343,828 (GRCm39) |
F142S |
probably damaging |
Het |
| Nktr |
TAGAAG |
TAG |
9: 121,579,929 (GRCm39) |
|
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,552 (GRCm39) |
I27V |
probably benign |
Het |
| Parp16 |
T |
A |
9: 65,137,231 (GRCm39) |
H152Q |
probably damaging |
Het |
| Plaa |
C |
G |
4: 94,457,640 (GRCm39) |
V777L |
probably benign |
Het |
| Prnp |
A |
G |
2: 131,778,908 (GRCm39) |
T187A |
probably benign |
Het |
| Pzp |
T |
G |
6: 128,489,157 (GRCm39) |
I485L |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,782,629 (GRCm39) |
Y703N |
probably damaging |
Het |
| Rngtt |
G |
A |
4: 33,325,109 (GRCm39) |
C110Y |
probably damaging |
Het |
| Rps10 |
G |
A |
17: 27,853,085 (GRCm39) |
R95C |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,745 (GRCm39) |
I1658F |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,306,433 (GRCm39) |
W702R |
|
Het |
| Taf6 |
G |
T |
5: 138,180,238 (GRCm39) |
Q339K |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Tmem198 |
C |
T |
1: 75,459,671 (GRCm39) |
P209S |
possibly damaging |
Het |
| Vps13c |
G |
A |
9: 67,857,720 (GRCm39) |
E2651K |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,873,545 (GRCm39) |
V255I |
|
Het |
| Zfhx3 |
A |
G |
8: 109,675,925 (GRCm39) |
D2325G |
probably damaging |
Het |
| Zfp36l2 |
T |
C |
17: 84,494,551 (GRCm39) |
N29D |
possibly damaging |
Het |
| Zfp692 |
T |
A |
11: 58,201,199 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- CAGAGGATGAGTATGCCAACACTG -3'
(R):5'- AAGTAGCAGCCACCTCAGTC -3'
Sequencing Primer
(F):5'- GATGAGTATGCCAACACTGATCAAAC -3'
(R):5'- GCTAAGACTACAGTAATTGTCTTGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation