Incidental Mutation 'R3753:Vmn2r28'
| ID |
271311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r28
|
| Ensembl Gene |
ENSMUSG00000066820 |
| Gene Name |
vomeronasal 2, receptor 28 |
| Synonyms |
EG665255 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R3753 (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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
| Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
| Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
| Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
| Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
| Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
| Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
| Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
| Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
probably damaging |
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 |
|
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'- GGGTTGAGCTGACATCTGAATG -3'
(R):5'- CATTGTTCCATCTCAAAAGCACAG -3'
Sequencing Primer
(F):5'- AATCTGCGACTTCTTTTACCAATCAC -3'
(R):5'- AGCACAGATTTAAACCTAGAAATGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation