Incidental Mutation 'R0837:Vmn2r28'
ID |
77992 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r28
|
Ensembl Gene |
ENSMUSG00000066820 |
Gene Name |
vomeronasal 2, receptor 28 |
Synonyms |
EG665255 |
MMRRC Submission |
039016-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R0837 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
5483455-5496850 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 5491026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 407
(H407L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086297]
|
AlphaFold |
L7N203 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086297
AA Change: H407L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083477 Gene: ENSMUSG00000066820 AA Change: H407L
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: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
96% (44/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563I02Rik |
T |
C |
14: 60,333,375 (GRCm39) |
|
probably benign |
Het |
4930579C12Rik |
A |
G |
9: 89,050,260 (GRCm39) |
|
noncoding transcript |
Het |
Adam34 |
T |
A |
8: 44,104,537 (GRCm39) |
K369N |
probably benign |
Het |
Ap1g1 |
T |
C |
8: 110,577,697 (GRCm39) |
W481R |
probably damaging |
Het |
Bicdl1 |
G |
A |
5: 115,869,351 (GRCm39) |
P26S |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,607,231 (GRCm39) |
C1224* |
probably null |
Het |
Cpsf2 |
C |
T |
12: 101,963,501 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
G |
A |
15: 74,725,490 (GRCm39) |
R210W |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,495 (GRCm39) |
V1048I |
probably benign |
Het |
Dync2h1 |
C |
A |
9: 7,077,979 (GRCm39) |
A2908S |
probably benign |
Het |
Elane |
A |
G |
10: 79,722,942 (GRCm39) |
D116G |
probably damaging |
Het |
Epb41l2 |
C |
T |
10: 25,383,714 (GRCm39) |
R153C |
probably damaging |
Het |
Gucy2c |
G |
A |
6: 136,699,418 (GRCm39) |
P617L |
probably damaging |
Het |
H2ac21 |
G |
A |
3: 96,127,439 (GRCm39) |
A70T |
probably damaging |
Het |
Kcnq4 |
T |
A |
4: 120,604,058 (GRCm39) |
I106L |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,823,458 (GRCm39) |
N931D |
possibly damaging |
Het |
Mthfs |
A |
G |
9: 89,097,443 (GRCm39) |
E100G |
probably damaging |
Het |
Mto1 |
A |
T |
9: 78,381,072 (GRCm39) |
I639F |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,378,077 (GRCm39) |
E177G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,367,251 (GRCm39) |
M282L |
probably benign |
Het |
Or10aa1 |
A |
G |
1: 173,870,053 (GRCm39) |
D179G |
probably damaging |
Het |
Pik3c2g |
G |
A |
6: 139,903,425 (GRCm39) |
|
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,898,321 (GRCm39) |
M64L |
probably benign |
Het |
Prnp |
A |
T |
2: 131,778,444 (GRCm39) |
N32I |
probably damaging |
Het |
Ptpn11 |
C |
T |
5: 121,287,174 (GRCm39) |
V406I |
probably benign |
Het |
Rab40c |
G |
A |
17: 26,103,667 (GRCm39) |
T151I |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,304,495 (GRCm39) |
|
probably null |
Het |
Rnf145 |
T |
C |
11: 44,415,815 (GRCm39) |
V10A |
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,711,036 (GRCm39) |
N70S |
probably damaging |
Het |
Scaper |
A |
T |
9: 55,766,326 (GRCm39) |
C483* |
probably null |
Het |
Sema4a |
T |
A |
3: 88,360,405 (GRCm39) |
Q58L |
possibly damaging |
Het |
Slf1 |
T |
C |
13: 77,249,067 (GRCm39) |
|
probably null |
Het |
Sycp1 |
G |
T |
3: 102,822,561 (GRCm39) |
N364K |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,545,482 (GRCm39) |
|
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,417,141 (GRCm39) |
T537A |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,753,596 (GRCm39) |
I573T |
possibly damaging |
Het |
Ugt2b38 |
G |
A |
5: 87,559,632 (GRCm39) |
T420I |
probably damaging |
Het |
Ulk1 |
A |
T |
5: 110,937,411 (GRCm39) |
|
probably benign |
Het |
Unc80 |
G |
A |
1: 66,688,103 (GRCm39) |
C2367Y |
possibly damaging |
Het |
Usp7 |
C |
A |
16: 8,521,366 (GRCm39) |
G135C |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,014,189 (GRCm39) |
Y327C |
probably damaging |
Het |
Zfp804a |
A |
C |
2: 82,089,506 (GRCm39) |
T1112P |
probably damaging |
Het |
Zfr2 |
A |
G |
10: 81,081,242 (GRCm39) |
K431E |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 725,850 (GRCm39) |
Y638* |
probably null |
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 |
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 |
R8183:Vmn2r28
|
UTSW |
7 |
5,491,147 (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'- CTGGACATCTGAGAGACACTAAATGGC -3'
(R):5'- ACTTTACTTCCAATGGAACTGGGTCG -3'
Sequencing Primer
(F):5'- TGGCTATGCAATTGAAGACACC -3'
(R):5'- GTTATACAGAGAATATGGGTCACCAC -3'
|
Posted On |
2013-10-16 |