Incidental Mutation 'R5427:Vmn2r28'
| ID |
426950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r28
|
| Ensembl Gene |
ENSMUSG00000066820 |
| Gene Name |
vomeronasal 2, receptor 28 |
| Synonyms |
EG665255 |
| MMRRC Submission |
042993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5483455-5496850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5489376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 488
(Y488N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086297]
|
| AlphaFold |
L7N203 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086297
AA Change: Y488N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083477
Gene: ENSMUSG00000066820
AA Change: Y488N
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,248,385 (GRCm39) |
V277A |
possibly damaging |
Het |
| Adcy7 |
G |
A |
8: 89,052,829 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
A |
T |
8: 95,661,730 (GRCm39) |
D157V |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,378,617 (GRCm39) |
N2090S |
possibly damaging |
Het |
| Alpi |
T |
C |
1: 87,029,076 (GRCm39) |
N33D |
probably benign |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,284,598 (GRCm39) |
|
probably benign |
Het |
| Atg4b |
G |
C |
1: 93,702,928 (GRCm39) |
K86N |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,100,860 (GRCm39) |
T12A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,414,275 (GRCm39) |
T377A |
possibly damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,796,821 (GRCm39) |
Q505R |
probably damaging |
Het |
| Cep135 |
T |
A |
5: 76,786,049 (GRCm39) |
S1051T |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,667,593 (GRCm39) |
D109G |
probably damaging |
Het |
| Crym |
A |
C |
7: 119,798,445 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
T |
A |
15: 78,173,111 (GRCm39) |
S250C |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,023,648 (GRCm39) |
V730E |
unknown |
Het |
| Eci3 |
G |
T |
13: 35,143,931 (GRCm39) |
L65M |
possibly damaging |
Het |
| Erg28 |
T |
C |
12: 85,866,341 (GRCm39) |
N46D |
probably damaging |
Het |
| Fam89b |
A |
G |
19: 5,778,819 (GRCm39) |
S127P |
probably benign |
Het |
| Fign |
A |
G |
2: 63,809,342 (GRCm39) |
Y643H |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,788,741 (GRCm39) |
V265A |
probably benign |
Het |
| Gclm |
T |
C |
3: 122,059,976 (GRCm39) |
V252A |
probably damaging |
Het |
| Git2 |
A |
G |
5: 114,868,389 (GRCm39) |
S584P |
possibly damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,421,059 (GRCm39) |
|
probably null |
Het |
| Kcnk3 |
A |
G |
5: 30,779,639 (GRCm39) |
T230A |
possibly damaging |
Het |
| Mettl25b |
T |
C |
3: 87,831,639 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
T |
C |
11: 68,693,757 (GRCm39) |
L1486P |
probably damaging |
Het |
| Myom2 |
C |
A |
8: 15,163,764 (GRCm39) |
A1006E |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nampt |
A |
T |
12: 32,884,914 (GRCm39) |
H111L |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,658,268 (GRCm39) |
Y671C |
probably damaging |
Het |
| Npy5r |
G |
A |
8: 67,133,672 (GRCm39) |
R374C |
probably damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,858 (GRCm39) |
K244N |
probably benign |
Het |
| Or5b123 |
A |
T |
19: 13,596,714 (GRCm39) |
S20C |
probably benign |
Het |
| Palld |
C |
T |
8: 62,003,106 (GRCm39) |
C720Y |
probably benign |
Het |
| Pcsk6 |
C |
T |
7: 65,683,647 (GRCm39) |
T606M |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,979 (GRCm39) |
I176M |
possibly damaging |
Het |
| Pi4kb |
A |
G |
3: 94,901,518 (GRCm39) |
D395G |
probably benign |
Het |
| Plod3 |
A |
T |
5: 137,020,642 (GRCm39) |
Y547F |
probably damaging |
Het |
| Plscr1l1 |
G |
A |
9: 92,234,649 (GRCm39) |
C128Y |
probably benign |
Het |
| Pnpo |
T |
C |
11: 96,834,633 (GRCm39) |
Y21C |
probably benign |
Het |
| Rgs1 |
A |
T |
1: 144,122,018 (GRCm39) |
C118* |
probably null |
Het |
| Slc22a27 |
A |
G |
19: 7,856,753 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,078,693 (GRCm39) |
V498I |
probably benign |
Het |
| Stim2 |
A |
T |
5: 54,268,281 (GRCm39) |
I448F |
possibly damaging |
Het |
| Sulf1 |
A |
T |
1: 12,867,136 (GRCm39) |
T107S |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,689,599 (GRCm39) |
V1996A |
probably damaging |
Het |
| Timm23 |
G |
A |
14: 31,911,103 (GRCm39) |
T171I |
possibly damaging |
Het |
| Tssk2 |
A |
G |
16: 17,716,729 (GRCm39) |
D44G |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,333 (GRCm39) |
V668A |
possibly damaging |
Het |
| Zbtb48 |
A |
G |
4: 152,105,108 (GRCm39) |
F518S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,642,976 (GRCm39) |
E135G |
probably benign |
Het |
| Zfp788 |
G |
A |
7: 41,299,076 (GRCm39) |
V571I |
possibly damaging |
Het |
| Zfp963 |
A |
G |
8: 70,196,106 (GRCm39) |
S116P |
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 |
|
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'- ACAGTGGTGAAGAACAGTTTTG -3'
(R):5'- ACACATGCGTTTGGTTCTGC -3'
Sequencing Primer
(F):5'- TCTTCAAAGAATTGGGGAAAATGTC -3'
(R):5'- CGTAGTTGCCTTTATTATGGAATCAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation