Incidental Mutation 'R8183:Vmn2r28'
| ID |
634726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r28
|
| Ensembl Gene |
ENSMUSG00000066820 |
| Gene Name |
vomeronasal 2, receptor 28 |
| Synonyms |
EG665255 |
| MMRRC Submission |
067781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R8183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5483455-5496850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5491147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 367
(C367S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086297]
|
| AlphaFold |
L7N203 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086297
AA Change: C367S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083477
Gene: ENSMUSG00000066820
AA Change: C367S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
470 |
1.7e-26 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
9.8e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
2.8e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
T |
A |
15: 72,991,337 (GRCm39) |
K534* |
probably null |
Het |
| Art1 |
A |
T |
7: 101,756,633 (GRCm39) |
I275F |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,116,918 (GRCm39) |
N233S |
probably damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,786,373 (GRCm39) |
I272L |
probably benign |
Het |
| Bpifa1 |
A |
G |
2: 153,988,039 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,768,879 (GRCm39) |
E563G |
probably benign |
Het |
| Clns1a |
A |
G |
7: 97,354,888 (GRCm39) |
Y78C |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,640,207 (GRCm39) |
V483A |
|
Het |
| Col3a1 |
C |
G |
1: 45,373,970 (GRCm39) |
P621R |
unknown |
Het |
| Cst9 |
G |
A |
2: 148,678,634 (GRCm39) |
R88H |
possibly damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,428 (GRCm39) |
Y513H |
probably damaging |
Het |
| Dcdc2a |
T |
C |
13: 25,291,633 (GRCm39) |
F206S |
possibly damaging |
Het |
| Dgkz |
C |
A |
2: 91,769,937 (GRCm39) |
G576C |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,394,814 (GRCm39) |
F575L |
probably damaging |
Het |
| Ftcd |
T |
A |
10: 76,411,541 (GRCm39) |
M1K |
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,689 (GRCm39) |
D1044G |
unknown |
Het |
| Gzmc |
A |
T |
14: 56,470,164 (GRCm39) |
M111K |
probably damaging |
Het |
| Hpse |
T |
A |
5: 100,832,984 (GRCm39) |
Y437F |
probably damaging |
Het |
| Ifi203 |
A |
G |
1: 173,756,266 (GRCm39) |
S506P |
unknown |
Het |
| Igsf10 |
A |
T |
3: 59,238,036 (GRCm39) |
I715K |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,273,902 (GRCm39) |
V569A |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,433 (GRCm39) |
F821S |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,533,321 (GRCm39) |
H1186R |
probably damaging |
Het |
| Krt33a |
A |
G |
11: 99,905,575 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
A |
T |
8: 36,689,819 (GRCm39) |
M718K |
possibly damaging |
Het |
| Mefv |
C |
T |
16: 3,526,446 (GRCm39) |
R756K |
possibly damaging |
Het |
| Metap1d |
T |
A |
2: 71,337,207 (GRCm39) |
F40Y |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,092,832 (GRCm39) |
D42V |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,773,843 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,460,186 (GRCm39) |
S2241P |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,086 (GRCm39) |
Y127N |
probably damaging |
Het |
| Osbpl3 |
C |
A |
6: 50,280,089 (GRCm39) |
R710L |
probably benign |
Het |
| Osbpl6 |
C |
T |
2: 76,415,404 (GRCm39) |
R589C |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,762,199 (GRCm39) |
T795A |
probably benign |
Het |
| Patj |
A |
C |
4: 98,562,466 (GRCm39) |
E1534D |
probably damaging |
Het |
| Plscr5 |
A |
G |
9: 92,080,655 (GRCm39) |
Q47R |
probably benign |
Het |
| Ppil1 |
A |
T |
17: 29,481,053 (GRCm39) |
|
probably null |
Het |
| Sec23b |
G |
T |
2: 144,401,189 (GRCm39) |
V17L |
probably benign |
Het |
| Serpina3j |
C |
A |
12: 104,284,754 (GRCm39) |
Y310* |
probably null |
Het |
| Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
| Snrpn |
A |
G |
7: 59,634,830 (GRCm39) |
Y168H |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,884,400 (GRCm39) |
D94G |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,558,758 (GRCm39) |
M724K |
probably damaging |
Het |
| Trappc11 |
T |
G |
8: 47,982,391 (GRCm39) |
E116A |
possibly damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,150 (GRCm39) |
F652S |
possibly damaging |
Het |
| Trrap |
T |
G |
5: 144,765,343 (GRCm39) |
S2501A |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,209,782 (GRCm39) |
S5005A |
unknown |
Het |
| Urah |
A |
T |
7: 140,416,707 (GRCm39) |
Q60L |
probably benign |
Het |
| Zmym1 |
T |
C |
4: 126,952,649 (GRCm39) |
D44G |
probably benign |
Het |
|
| Other mutations in Vmn2r28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Vmn2r28
|
APN |
7 |
5,491,068 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01061:Vmn2r28
|
APN |
7 |
5,491,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01160:Vmn2r28
|
APN |
7 |
5,489,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01335:Vmn2r28
|
APN |
7 |
5,484,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01532:Vmn2r28
|
APN |
7 |
5,489,463 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01791:Vmn2r28
|
APN |
7 |
5,491,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01875:Vmn2r28
|
APN |
7 |
5,484,302 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02161:Vmn2r28
|
APN |
7 |
5,491,123 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02499:Vmn2r28
|
APN |
7 |
5,493,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02858:Vmn2r28
|
APN |
7 |
5,484,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03061:Vmn2r28
|
APN |
7 |
5,487,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
G1patch:Vmn2r28
|
UTSW |
7 |
5,491,408 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0288:Vmn2r28
|
UTSW |
7 |
5,491,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Vmn2r28
|
UTSW |
7 |
5,496,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0396:Vmn2r28
|
UTSW |
7 |
5,491,513 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0480:Vmn2r28
|
UTSW |
7 |
5,493,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0485:Vmn2r28
|
UTSW |
7 |
5,491,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0837:Vmn2r28
|
UTSW |
7 |
5,491,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1282:Vmn2r28
|
UTSW |
7 |
5,484,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1296:Vmn2r28
|
UTSW |
7 |
5,484,544 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1829:Vmn2r28
|
UTSW |
7 |
5,496,810 (GRCm39) |
missense |
probably benign |
|
|
R1853:Vmn2r28
|
UTSW |
7 |
5,484,246 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Vmn2r28
|
UTSW |
7 |
5,489,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1887:Vmn2r28
|
UTSW |
7 |
5,491,288 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1961:Vmn2r28
|
UTSW |
7 |
5,484,070 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1998:Vmn2r28
|
UTSW |
7 |
5,491,313 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2392:Vmn2r28
|
UTSW |
7 |
5,487,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2432:Vmn2r28
|
UTSW |
7 |
5,491,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3055:Vmn2r28
|
UTSW |
7 |
5,484,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3753:Vmn2r28
|
UTSW |
7 |
5,491,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3877:Vmn2r28
|
UTSW |
7 |
5,491,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4307:Vmn2r28
|
UTSW |
7 |
5,493,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5023:Vmn2r28
|
UTSW |
7 |
5,489,463 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5057:Vmn2r28
|
UTSW |
7 |
5,489,463 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5083:Vmn2r28
|
UTSW |
7 |
5,483,671 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5427:Vmn2r28
|
UTSW |
7 |
5,489,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5472:Vmn2r28
|
UTSW |
7 |
5,490,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5511:Vmn2r28
|
UTSW |
7 |
5,487,011 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5731:Vmn2r28
|
UTSW |
7 |
5,491,668 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6091:Vmn2r28
|
UTSW |
7 |
5,496,790 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6179:Vmn2r28
|
UTSW |
7 |
5,491,003 (GRCm39) |
nonsense |
probably null |
|
|
R6276:Vmn2r28
|
UTSW |
7 |
5,493,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6441:Vmn2r28
|
UTSW |
7 |
5,491,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6463:Vmn2r28
|
UTSW |
7 |
5,489,435 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6528:Vmn2r28
|
UTSW |
7 |
5,493,684 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6725:Vmn2r28
|
UTSW |
7 |
5,491,408 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6760:Vmn2r28
|
UTSW |
7 |
5,484,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6849:Vmn2r28
|
UTSW |
7 |
5,483,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Vmn2r28
|
UTSW |
7 |
5,493,733 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7146:Vmn2r28
|
UTSW |
7 |
5,484,495 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7407:Vmn2r28
|
UTSW |
7 |
5,484,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Vmn2r28
|
UTSW |
7 |
5,491,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7611:Vmn2r28
|
UTSW |
7 |
5,484,255 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7808:Vmn2r28
|
UTSW |
7 |
5,496,678 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7862:Vmn2r28
|
UTSW |
7 |
5,493,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7916:Vmn2r28
|
UTSW |
7 |
5,483,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Vmn2r28
|
UTSW |
7 |
5,487,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Vmn2r28
|
UTSW |
7 |
5,489,347 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8989:Vmn2r28
|
UTSW |
7 |
5,493,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9066:Vmn2r28
|
UTSW |
7 |
5,491,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Vmn2r28
|
UTSW |
7 |
5,483,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Vmn2r28
|
UTSW |
7 |
5,487,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9608:Vmn2r28
|
UTSW |
7 |
5,491,220 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTACCTTAAAGCAGGGATAC -3'
(R):5'- CTGAATTTCCCTACCAGTAAGAAAGAC -3'
Sequencing Primer
(F):5'- GGATACCTGGATAATTTTCCATTGTC -3'
(R):5'- CCAGTAAGAAAGACTTAAATCATGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation