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: 0.138)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
5479531-5493967 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5488027 bp (GRCm38)
|
| 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: 60,095,926 (GRCm38) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,168,207 (GRCm38) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 43,651,500 (GRCm38) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 109,851,065 (GRCm38) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,731,292 (GRCm38) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,630,270 (GRCm38) |
C1224* |
probably null |
Het |
| Cpsf2 |
C |
T |
12: 101,997,242 (GRCm38) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,853,641 (GRCm38) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,989,258 (GRCm38) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm38) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,887,108 (GRCm38) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,507,816 (GRCm38) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,722,420 (GRCm38) |
P617L |
probably damaging |
Het |
| H2ac21 |
G |
A |
3: 96,220,123 (GRCm38) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,746,861 (GRCm38) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,096,829 (GRCm38) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,215,390 (GRCm38) |
E100G |
probably damaging |
Het |
| Mto1 |
A |
T |
9: 78,473,790 (GRCm38) |
I639F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,487,251 (GRCm38) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,230,743 (GRCm38) |
M282L |
probably benign |
Het |
| Or10aa1 |
A |
G |
1: 174,042,487 (GRCm38) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,957,699 (GRCm38) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,714,338 (GRCm38) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,936,524 (GRCm38) |
N32I |
probably damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,149,111 (GRCm38) |
V406I |
probably benign |
Het |
| Rab40c |
G |
A |
17: 25,884,693 (GRCm38) |
T151I |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,234,271 (GRCm38) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,524,988 (GRCm38) |
V10A |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,880,692 (GRCm38) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,859,042 (GRCm38) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,453,098 (GRCm38) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,100,948 (GRCm38) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,915,245 (GRCm38) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,896,275 (GRCm38) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,450,707 (GRCm38) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,703,597 (GRCm38) |
I573T |
possibly damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,411,773 (GRCm38) |
T420I |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,789,545 (GRCm38) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,648,944 (GRCm38) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,703,502 (GRCm38) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,793,927 (GRCm38) |
Y327C |
probably damaging |
Het |
| Zfp804a |
A |
C |
2: 82,259,162 (GRCm38) |
T1112P |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,245,408 (GRCm38) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm38) |
Y638* |
probably null |
Het |
|
| Other mutations in Vmn2r28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Vmn2r28
|
APN |
7 |
5,488,069 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL01061:Vmn2r28
|
APN |
7 |
5,488,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01160:Vmn2r28
|
APN |
7 |
5,486,478 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01335:Vmn2r28
|
APN |
7 |
5,481,088 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01532:Vmn2r28
|
APN |
7 |
5,486,464 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01791:Vmn2r28
|
APN |
7 |
5,488,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01875:Vmn2r28
|
APN |
7 |
5,481,303 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL02161:Vmn2r28
|
APN |
7 |
5,488,124 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02499:Vmn2r28
|
APN |
7 |
5,490,569 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02858:Vmn2r28
|
APN |
7 |
5,481,004 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03061:Vmn2r28
|
APN |
7 |
5,484,016 (GRCm38) |
missense |
probably damaging |
0.98 |
|
G1patch:Vmn2r28
|
UTSW |
7 |
5,488,409 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0288:Vmn2r28
|
UTSW |
7 |
5,488,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0361:Vmn2r28
|
UTSW |
7 |
5,493,716 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0396:Vmn2r28
|
UTSW |
7 |
5,488,514 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0480:Vmn2r28
|
UTSW |
7 |
5,490,457 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0485:Vmn2r28
|
UTSW |
7 |
5,488,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1282:Vmn2r28
|
UTSW |
7 |
5,481,302 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1296:Vmn2r28
|
UTSW |
7 |
5,481,545 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1829:Vmn2r28
|
UTSW |
7 |
5,493,811 (GRCm38) |
missense |
probably benign |
|
|
R1853:Vmn2r28
|
UTSW |
7 |
5,481,247 (GRCm38) |
nonsense |
probably null |
|
|
R1869:Vmn2r28
|
UTSW |
7 |
5,486,346 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1887:Vmn2r28
|
UTSW |
7 |
5,488,289 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1961:Vmn2r28
|
UTSW |
7 |
5,481,071 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1998:Vmn2r28
|
UTSW |
7 |
5,488,314 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2392:Vmn2r28
|
UTSW |
7 |
5,484,131 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2432:Vmn2r28
|
UTSW |
7 |
5,488,702 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3055:Vmn2r28
|
UTSW |
7 |
5,481,392 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3753:Vmn2r28
|
UTSW |
7 |
5,488,027 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3877:Vmn2r28
|
UTSW |
7 |
5,488,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4307:Vmn2r28
|
UTSW |
7 |
5,490,708 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5023:Vmn2r28
|
UTSW |
7 |
5,486,464 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5057:Vmn2r28
|
UTSW |
7 |
5,486,464 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5083:Vmn2r28
|
UTSW |
7 |
5,480,672 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5427:Vmn2r28
|
UTSW |
7 |
5,486,377 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5472:Vmn2r28
|
UTSW |
7 |
5,487,944 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5511:Vmn2r28
|
UTSW |
7 |
5,484,012 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5731:Vmn2r28
|
UTSW |
7 |
5,488,669 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6091:Vmn2r28
|
UTSW |
7 |
5,493,791 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6179:Vmn2r28
|
UTSW |
7 |
5,488,004 (GRCm38) |
nonsense |
probably null |
|
|
R6276:Vmn2r28
|
UTSW |
7 |
5,490,731 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6441:Vmn2r28
|
UTSW |
7 |
5,488,475 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6463:Vmn2r28
|
UTSW |
7 |
5,486,436 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6528:Vmn2r28
|
UTSW |
7 |
5,490,685 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6725:Vmn2r28
|
UTSW |
7 |
5,488,409 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6760:Vmn2r28
|
UTSW |
7 |
5,481,230 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6849:Vmn2r28
|
UTSW |
7 |
5,480,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7110:Vmn2r28
|
UTSW |
7 |
5,490,734 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7146:Vmn2r28
|
UTSW |
7 |
5,481,496 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7407:Vmn2r28
|
UTSW |
7 |
5,481,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7563:Vmn2r28
|
UTSW |
7 |
5,488,201 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7611:Vmn2r28
|
UTSW |
7 |
5,481,256 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7808:Vmn2r28
|
UTSW |
7 |
5,493,679 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7862:Vmn2r28
|
UTSW |
7 |
5,490,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7916:Vmn2r28
|
UTSW |
7 |
5,480,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8183:Vmn2r28
|
UTSW |
7 |
5,488,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8334:Vmn2r28
|
UTSW |
7 |
5,484,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8519:Vmn2r28
|
UTSW |
7 |
5,486,348 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8989:Vmn2r28
|
UTSW |
7 |
5,490,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9066:Vmn2r28
|
UTSW |
7 |
5,488,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9422:Vmn2r28
|
UTSW |
7 |
5,480,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9469:Vmn2r28
|
UTSW |
7 |
5,484,119 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9608:Vmn2r28
|
UTSW |
7 |
5,488,221 (GRCm38) |
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 |
Incidental Mutation