Incidental Mutation 'R6725:Vmn2r28'
| ID |
529819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r28
|
| Ensembl Gene |
ENSMUSG00000066820 |
| Gene Name |
vomeronasal 2, receptor 28 |
| Synonyms |
EG665255 |
| MMRRC Submission |
044843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R6725 (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 G
at 5491408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 280
(F280L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086297]
|
| AlphaFold |
L7N203 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086297
AA Change: F280L
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000083477
Gene: ENSMUSG00000066820
AA Change: F280L
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,469,833 (GRCm39) |
Y623C |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,585,676 (GRCm39) |
E4596G |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,641,329 (GRCm39) |
C3267S |
probably damaging |
Het |
| Ankrd40 |
T |
G |
11: 94,225,641 (GRCm39) |
V224G |
probably benign |
Het |
| Ap3s2 |
C |
T |
7: 79,570,390 (GRCm39) |
|
probably benign |
Het |
| Apip |
T |
A |
2: 102,922,870 (GRCm39) |
D229E |
possibly damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,902,791 (GRCm39) |
K329R |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,032,628 (GRCm39) |
D261G |
possibly damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,188,796 (GRCm39) |
Q490L |
probably damaging |
Het |
| Ccdc83 |
A |
G |
7: 89,896,261 (GRCm39) |
W103R |
probably damaging |
Het |
| Ctsl |
T |
A |
13: 64,514,437 (GRCm39) |
R69* |
probably null |
Het |
| Dchs1 |
C |
T |
7: 105,408,000 (GRCm39) |
R1944H |
probably damaging |
Het |
| Fgb |
T |
C |
3: 82,951,098 (GRCm39) |
Y305C |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,929,199 (GRCm39) |
Y3868N |
possibly damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,801,424 (GRCm39) |
S27T |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,745,244 (GRCm39) |
D228G |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,037,523 (GRCm39) |
T346S |
probably benign |
Het |
| Gnrhr |
T |
C |
5: 86,333,172 (GRCm39) |
I233V |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,738,568 (GRCm39) |
Y1465C |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,815 (GRCm39) |
L10P |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,489 (GRCm39) |
D94E |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 192,986,890 (GRCm39) |
Y59H |
probably benign |
Het |
| Msantd1 |
C |
T |
5: 35,078,765 (GRCm39) |
T100I |
probably damaging |
Het |
| Msx3 |
T |
A |
7: 139,628,659 (GRCm39) |
|
probably benign |
Het |
| Mttp |
C |
A |
3: 137,812,999 (GRCm39) |
A559S |
probably damaging |
Het |
| Myh1 |
C |
G |
11: 67,092,719 (GRCm39) |
D4E |
probably damaging |
Het |
| Or2ah1 |
A |
G |
2: 85,654,134 (GRCm39) |
K273R |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,561 (GRCm39) |
D211V |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,381 (GRCm39) |
Y65H |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,860,315 (GRCm39) |
Y457F |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pja2 |
A |
T |
17: 64,596,962 (GRCm39) |
M514K |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,792,488 (GRCm39) |
N284D |
probably damaging |
Het |
| Polr3d |
A |
T |
14: 70,678,577 (GRCm39) |
M129K |
probably benign |
Het |
| Ppp1r42 |
T |
G |
1: 10,069,732 (GRCm39) |
E110A |
probably damaging |
Het |
| Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Prelid2 |
A |
G |
18: 42,045,514 (GRCm39) |
I132T |
possibly damaging |
Het |
| Sergef |
G |
A |
7: 46,282,091 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
C |
A |
4: 87,145,119 (GRCm39) |
|
probably null |
Het |
| Stxbp3 |
A |
T |
3: 108,734,916 (GRCm39) |
D24E |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,801 (GRCm39) |
M233L |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,555,630 (GRCm39) |
H85Y |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,745,603 (GRCm39) |
E160V |
probably benign |
Het |
| Tmem171 |
A |
T |
13: 98,828,678 (GRCm39) |
C157* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,903,392 (GRCm39) |
Y1051H |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,914,253 (GRCm39) |
Y748N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,436,782 (GRCm39) |
S2024G |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,301,539 (GRCm39) |
Y2148* |
probably null |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,799,906 (GRCm39) |
T328A |
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 |
|
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'- CACAGTTAAAGTACTTCCACTCTTGC -3'
(R):5'- TGGCTATCAGTTTCTGTCACAG -3'
Sequencing Primer
(F):5'- AATCTGTGCTTTTGAGATGGAAC -3'
(R):5'- GACCTATGCCACAACTGA -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation