Incidental Mutation 'R6449:Vmn2r70'
| ID |
519294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r70
|
| Ensembl Gene |
ENSMUSG00000090806 |
| Gene Name |
vomeronasal 2, receptor 70 |
| Synonyms |
EG620835 |
| MMRRC Submission |
044585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R6449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85207911-85218296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85214157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 332
(F332I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168230]
|
| AlphaFold |
K7N702 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168230
AA Change: F332I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129703
Gene: ENSMUSG00000090806
AA Change: F332I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
468 |
2.5e-28 |
PFAM |
|
Pfam:NCD3G
|
510 |
562 |
1.5e-19 |
PFAM |
|
Pfam:7tm_3
|
592 |
830 |
1.2e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,652,972 (GRCm39) |
D137V |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,868,116 (GRCm39) |
T410A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,030,754 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,596 (GRCm39) |
V563E |
probably damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,811 (GRCm39) |
L295P |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,812,554 (GRCm39) |
T210A |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,960,486 (GRCm39) |
A408T |
unknown |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,906 (GRCm39) |
K415R |
probably damaging |
Het |
| Cyp2c29 |
G |
T |
19: 39,279,311 (GRCm39) |
A103S |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg1b |
A |
T |
18: 20,527,498 (GRCm39) |
I210F |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,056,869 (GRCm39) |
D1002V |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,010 (GRCm39) |
V431I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,773 (GRCm39) |
C174* |
probably null |
Het |
| Il2ra |
A |
G |
2: 11,685,173 (GRCm39) |
K170E |
probably benign |
Het |
| Itch |
T |
C |
2: 155,005,315 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
C |
6: 52,754,640 (GRCm39) |
D145E |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,691,858 (GRCm39) |
A469E |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,902,269 (GRCm39) |
I125V |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Krtap27-1 |
C |
T |
16: 88,467,941 (GRCm39) |
S201N |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,228,758 (GRCm39) |
S326P |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,716,206 (GRCm39) |
V565F |
probably damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,013,994 (GRCm39) |
|
probably null |
Het |
| Or5c1 |
A |
G |
2: 37,221,837 (GRCm39) |
D26G |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,889 (GRCm39) |
I61N |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,493 (GRCm39) |
S229P |
possibly damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,090,514 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
A |
G |
9: 65,264,057 (GRCm39) |
E434G |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,903,564 (GRCm39) |
F102L |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,458 (GRCm39) |
D191G |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,576,466 (GRCm39) |
T123A |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,541,444 (GRCm39) |
V361M |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,990,869 (GRCm39) |
D414G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,933,252 (GRCm39) |
H1162Y |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,894,851 (GRCm39) |
V448A |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,775,550 (GRCm39) |
M400K |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,119,261 (GRCm39) |
E50* |
probably null |
Het |
| Thada |
A |
C |
17: 84,736,601 (GRCm39) |
D893E |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,880,587 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,071,050 (GRCm39) |
S1308P |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,925 (GRCm39) |
I151N |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,488 (GRCm39) |
D238G |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,810 (GRCm39) |
H145R |
possibly damaging |
Het |
|
| Other mutations in Vmn2r70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Vmn2r70
|
APN |
7 |
85,213,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01140:Vmn2r70
|
APN |
7 |
85,214,379 (GRCm39) |
nonsense |
probably null |
|
|
IGL01287:Vmn2r70
|
APN |
7 |
85,218,227 (GRCm39) |
nonsense |
probably null |
|
|
IGL01581:Vmn2r70
|
APN |
7 |
85,213,122 (GRCm39) |
splice site |
probably null |
|
|
IGL01632:Vmn2r70
|
APN |
7 |
85,215,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01725:Vmn2r70
|
APN |
7 |
85,208,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Vmn2r70
|
APN |
7 |
85,214,211 (GRCm39) |
missense |
probably benign |
|
|
IGL02288:Vmn2r70
|
APN |
7 |
85,214,342 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02313:Vmn2r70
|
APN |
7 |
85,214,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02591:Vmn2r70
|
APN |
7 |
85,214,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02725:Vmn2r70
|
APN |
7 |
85,214,553 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02797:Vmn2r70
|
APN |
7 |
85,208,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0045:Vmn2r70
|
UTSW |
7 |
85,215,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Vmn2r70
|
UTSW |
7 |
85,215,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0967:Vmn2r70
|
UTSW |
7 |
85,208,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1217:Vmn2r70
|
UTSW |
7 |
85,208,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Vmn2r70
|
UTSW |
7 |
85,214,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Vmn2r70
|
UTSW |
7 |
85,207,969 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1483:Vmn2r70
|
UTSW |
7 |
85,208,375 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1796:Vmn2r70
|
UTSW |
7 |
85,213,011 (GRCm39) |
nonsense |
probably null |
|
|
R1809:Vmn2r70
|
UTSW |
7 |
85,215,130 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2154:Vmn2r70
|
UTSW |
7 |
85,212,923 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2173:Vmn2r70
|
UTSW |
7 |
85,214,290 (GRCm39) |
missense |
probably benign |
|
|
R2334:Vmn2r70
|
UTSW |
7 |
85,208,800 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2871:Vmn2r70
|
UTSW |
7 |
85,208,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Vmn2r70
|
UTSW |
7 |
85,208,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Vmn2r70
|
UTSW |
7 |
85,208,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4525:Vmn2r70
|
UTSW |
7 |
85,208,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4527:Vmn2r70
|
UTSW |
7 |
85,208,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4535:Vmn2r70
|
UTSW |
7 |
85,214,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Vmn2r70
|
UTSW |
7 |
85,208,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5600:Vmn2r70
|
UTSW |
7 |
85,212,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5641:Vmn2r70
|
UTSW |
7 |
85,208,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5726:Vmn2r70
|
UTSW |
7 |
85,208,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Vmn2r70
|
UTSW |
7 |
85,215,199 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6166:Vmn2r70
|
UTSW |
7 |
85,215,189 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6272:Vmn2r70
|
UTSW |
7 |
85,208,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Vmn2r70
|
UTSW |
7 |
85,208,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6429:Vmn2r70
|
UTSW |
7 |
85,208,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Vmn2r70
|
UTSW |
7 |
85,215,305 (GRCm39) |
missense |
probably benign |
|
|
R7000:Vmn2r70
|
UTSW |
7 |
85,208,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7141:Vmn2r70
|
UTSW |
7 |
85,208,044 (GRCm39) |
missense |
probably benign |
|
|
R7153:Vmn2r70
|
UTSW |
7 |
85,214,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7424:Vmn2r70
|
UTSW |
7 |
85,213,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Vmn2r70
|
UTSW |
7 |
85,214,499 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7567:Vmn2r70
|
UTSW |
7 |
85,214,243 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7593:Vmn2r70
|
UTSW |
7 |
85,215,312 (GRCm39) |
nonsense |
probably null |
|
|
R7660:Vmn2r70
|
UTSW |
7 |
85,218,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7806:Vmn2r70
|
UTSW |
7 |
85,208,401 (GRCm39) |
missense |
probably benign |
|
|
R7892:Vmn2r70
|
UTSW |
7 |
85,208,588 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7965:Vmn2r70
|
UTSW |
7 |
85,211,071 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8052:Vmn2r70
|
UTSW |
7 |
85,212,923 (GRCm39) |
missense |
probably benign |
|
|
R8251:Vmn2r70
|
UTSW |
7 |
85,215,186 (GRCm39) |
nonsense |
probably null |
|
|
R8814:Vmn2r70
|
UTSW |
7 |
85,215,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8934:Vmn2r70
|
UTSW |
7 |
85,211,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9225:Vmn2r70
|
UTSW |
7 |
85,208,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Vmn2r70
|
UTSW |
7 |
85,208,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9430:Vmn2r70
|
UTSW |
7 |
85,215,240 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9477:Vmn2r70
|
UTSW |
7 |
85,218,244 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Z1088:Vmn2r70
|
UTSW |
7 |
85,213,968 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Vmn2r70
|
UTSW |
7 |
85,218,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCATTCCAAGTGGTGTC -3'
(R):5'- AAAACTCAGAAGCTCGTGGCC -3'
Sequencing Primer
(F):5'- CCAAGTGGTGTCATGAATAACC -3'
(R):5'- AGCTCGTGGCCCTTAAAGAGTTAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation