Incidental Mutation 'R6357:Vmn2r44'
| ID |
512377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r44
|
| Ensembl Gene |
ENSMUSG00000094098 |
| Gene Name |
vomeronasal 2, receptor 44 |
| Synonyms |
EG434113 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R6357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
8370459-8386237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8373657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 511
(M511V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166499]
|
| AlphaFold |
L7N2E1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166499
AA Change: M511V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000132467
Gene: ENSMUSG00000094098
AA Change: M511V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
2.5e-34 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
3.8e-20 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
5.7e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
C |
17: 57,184,591 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,908 (GRCm39) |
M303V |
probably benign |
Het |
| Armh4 |
A |
T |
14: 50,010,769 (GRCm39) |
S313T |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,714,710 (GRCm39) |
D140G |
probably benign |
Het |
| Card10 |
T |
C |
15: 78,683,579 (GRCm39) |
E188G |
probably damaging |
Het |
| Cenpq |
T |
C |
17: 41,235,418 (GRCm39) |
E193G |
probably damaging |
Het |
| Cep164 |
G |
A |
9: 45,682,182 (GRCm39) |
L1874F |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,428,321 (GRCm39) |
M889T |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dynlt2b |
T |
G |
16: 32,247,873 (GRCm39) |
|
probably null |
Het |
| Eci2 |
A |
G |
13: 35,177,082 (GRCm39) |
V26A |
possibly damaging |
Het |
| Eftud2 |
A |
T |
11: 102,755,606 (GRCm39) |
N200K |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,837,143 (GRCm39) |
H357L |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,449,076 (GRCm39) |
*395R |
probably null |
Het |
| Galt |
C |
T |
4: 41,757,565 (GRCm39) |
P246S |
probably benign |
Het |
| Gjb3 |
A |
T |
4: 127,220,423 (GRCm39) |
Y36* |
probably null |
Het |
| Gli2 |
T |
C |
1: 118,769,689 (GRCm39) |
E621G |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,258,665 (GRCm39) |
D201G |
probably damaging |
Het |
| Gm10801 |
C |
CGTCA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
T |
C |
9: 26,825,424 (GRCm39) |
|
probably null |
Het |
| Gm5565 |
T |
A |
5: 146,097,283 (GRCm39) |
H13L |
possibly damaging |
Het |
| Hydin |
A |
C |
8: 111,268,289 (GRCm39) |
T2923P |
possibly damaging |
Het |
| Kank1 |
A |
T |
19: 25,388,717 (GRCm39) |
I797L |
probably benign |
Het |
| Klhdc8a |
A |
T |
1: 132,230,891 (GRCm39) |
Q252L |
probably damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,204 (GRCm39) |
F65S |
possibly damaging |
Het |
| Lix1 |
C |
T |
17: 17,666,255 (GRCm39) |
P138L |
probably benign |
Het |
| Lnpep |
T |
C |
17: 17,773,176 (GRCm39) |
N664S |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,291,888 (GRCm39) |
Y214* |
probably null |
Het |
| Nefl |
A |
G |
14: 68,321,767 (GRCm39) |
E119G |
probably damaging |
Het |
| Nptxr |
C |
A |
15: 79,678,516 (GRCm39) |
R257L |
possibly damaging |
Het |
| Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
| Or7e173 |
T |
A |
9: 19,938,925 (GRCm39) |
Q103L |
probably damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,709 (GRCm39) |
I210V |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,240 (GRCm39) |
Q534L |
probably benign |
Het |
| Psma1 |
T |
C |
7: 113,873,602 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
G |
A |
14: 33,678,991 (GRCm39) |
A980T |
probably damaging |
Het |
| Ripply2 |
T |
A |
9: 86,898,331 (GRCm39) |
S58R |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,190 (GRCm39) |
V454A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,446,273 (GRCm39) |
D2773G |
possibly damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,568,243 (GRCm39) |
V366E |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Spata31f1a |
T |
A |
4: 42,850,393 (GRCm39) |
I588F |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,422,789 (GRCm39) |
S38G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,283,280 (GRCm39) |
Y267C |
probably damaging |
Het |
| Ssc4d |
T |
C |
5: 135,994,950 (GRCm39) |
T189A |
probably benign |
Het |
| Tas2r106 |
A |
G |
6: 131,654,925 (GRCm39) |
*309Q |
probably null |
Het |
| Wdfy4 |
G |
T |
14: 32,823,006 (GRCm39) |
Y1364* |
probably null |
Het |
| Zbtb8a |
T |
C |
4: 129,248,092 (GRCm39) |
H393R |
probably benign |
Het |
|
| Other mutations in Vmn2r44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Vmn2r44
|
APN |
7 |
8,383,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01723:Vmn2r44
|
APN |
7 |
8,380,915 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01767:Vmn2r44
|
APN |
7 |
8,383,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02161:Vmn2r44
|
APN |
7 |
8,380,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02299:Vmn2r44
|
APN |
7 |
8,380,815 (GRCm39) |
missense |
probably benign |
|
|
IGL02418:Vmn2r44
|
APN |
7 |
8,380,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Vmn2r44
|
APN |
7 |
8,380,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02851:Vmn2r44
|
APN |
7 |
8,386,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Vmn2r44
|
APN |
7 |
8,386,244 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1471:Vmn2r44
|
UTSW |
7 |
8,380,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Vmn2r44
|
UTSW |
7 |
8,383,122 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1932:Vmn2r44
|
UTSW |
7 |
8,370,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2354:Vmn2r44
|
UTSW |
7 |
8,373,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4009:Vmn2r44
|
UTSW |
7 |
8,380,987 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4130:Vmn2r44
|
UTSW |
7 |
8,370,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Vmn2r44
|
UTSW |
7 |
8,370,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Vmn2r44
|
UTSW |
7 |
8,383,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4887:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4888:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5484:Vmn2r44
|
UTSW |
7 |
8,383,123 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6110:Vmn2r44
|
UTSW |
7 |
8,381,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Vmn2r44
|
UTSW |
7 |
8,381,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7083:Vmn2r44
|
UTSW |
7 |
8,381,369 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7087:Vmn2r44
|
UTSW |
7 |
8,381,366 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7115:Vmn2r44
|
UTSW |
7 |
8,370,527 (GRCm39) |
nonsense |
probably null |
|
|
R7125:Vmn2r44
|
UTSW |
7 |
8,370,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Vmn2r44
|
UTSW |
7 |
8,380,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Vmn2r44
|
UTSW |
7 |
8,370,538 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7494:Vmn2r44
|
UTSW |
7 |
8,386,122 (GRCm39) |
nonsense |
probably null |
|
|
R7766:Vmn2r44
|
UTSW |
7 |
8,371,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Vmn2r44
|
UTSW |
7 |
8,381,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8184:Vmn2r44
|
UTSW |
7 |
8,371,227 (GRCm39) |
nonsense |
probably null |
|
|
R8674:Vmn2r44
|
UTSW |
7 |
8,380,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r44
|
UTSW |
7 |
8,370,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Vmn2r44
|
UTSW |
7 |
8,381,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Vmn2r44
|
UTSW |
7 |
8,370,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Vmn2r44
|
UTSW |
7 |
8,381,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Vmn2r44
|
UTSW |
7 |
8,371,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn2r44
|
UTSW |
7 |
8,370,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCAGTGTGGACCAAGAG -3'
(R):5'- CTTCTGTAGATTTTACACACAGCTC -3'
Sequencing Primer
(F):5'- TCCCAGTGTGGACCAAGAGAAATC -3'
(R):5'- GCTCAAAAATCAGCTGTTTTTCCTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation