Incidental Mutation 'R5472:Vmn2r28'
| ID |
433866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r28
|
| Ensembl Gene |
ENSMUSG00000066820 |
| Gene Name |
vomeronasal 2, receptor 28 |
| Synonyms |
EG665255 |
| MMRRC Submission |
043033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
5483455-5496850 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 5490943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086297]
|
| AlphaFold |
L7N203 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086297
|
| SMART Domains |
Protein: ENSMUSP00000083477
Gene: ENSMUSG00000066820
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
T |
C |
2: 25,469,714 (GRCm39) |
T66A |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,750,869 (GRCm39) |
N506S |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,197 (GRCm39) |
H548L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,615,407 (GRCm39) |
V1328A |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,339,454 (GRCm39) |
V47I |
probably damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,048 (GRCm39) |
T76K |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,986,564 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,703 (GRCm39) |
D583G |
probably benign |
Het |
| Cxcr4 |
C |
A |
1: 128,517,362 (GRCm39) |
A100S |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,419,677 (GRCm39) |
C305F |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,107,055 (GRCm39) |
V308A |
probably benign |
Het |
| Gm11733 |
A |
T |
11: 117,375,322 (GRCm39) |
I24L |
unknown |
Het |
| Gm973 |
A |
G |
1: 59,667,446 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,109,089 (GRCm39) |
F1057I |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,838 (GRCm39) |
|
probably null |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,471 (GRCm39) |
V91E |
probably damaging |
Het |
| Inhba |
A |
G |
13: 16,201,371 (GRCm39) |
E311G |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,526,108 (GRCm39) |
|
probably null |
Het |
| Jag1 |
C |
A |
2: 136,926,915 (GRCm39) |
C948F |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,625 (GRCm39) |
I402T |
possibly damaging |
Het |
| Kcnh8 |
A |
T |
17: 53,284,844 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Lrsam1 |
ACC |
AC |
2: 32,835,870 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,343,854 (GRCm39) |
T2123A |
probably benign |
Het |
| Mdfic2 |
A |
T |
6: 98,215,237 (GRCm39) |
C129S |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Msh6 |
G |
A |
17: 88,291,989 (GRCm39) |
R248Q |
possibly damaging |
Het |
| Odf2l |
G |
T |
3: 144,852,627 (GRCm39) |
R457L |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,898 (GRCm39) |
L206F |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,386,856 (GRCm39) |
V318A |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,075,973 (GRCm39) |
T267I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,727 (GRCm39) |
D133G |
probably benign |
Het |
| Prpf8 |
A |
C |
11: 75,394,469 (GRCm39) |
K1801N |
possibly damaging |
Het |
| Raf1 |
A |
G |
6: 115,603,667 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
C |
A |
17: 32,615,643 (GRCm39) |
L374F |
probably damaging |
Het |
| S1pr3 |
T |
A |
13: 51,573,683 (GRCm39) |
V288D |
probably damaging |
Het |
| Setd7 |
G |
A |
3: 51,428,886 (GRCm39) |
P315S |
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,809,404 (GRCm39) |
A364T |
probably benign |
Het |
| Sp7 |
G |
A |
15: 102,267,749 (GRCm39) |
T19I |
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,101,512 (GRCm39) |
C268S |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,394 (GRCm39) |
D351E |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,339,340 (GRCm39) |
D211V |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,401,092 (GRCm39) |
S1069P |
probably benign |
Het |
| Tsnax |
A |
G |
8: 125,742,501 (GRCm39) |
I77V |
probably benign |
Het |
| Txndc5 |
G |
A |
13: 38,697,101 (GRCm39) |
L79F |
possibly damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,684,548 (GRCm39) |
E14G |
probably benign |
Het |
| Vwde |
A |
T |
6: 13,193,117 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,928,046 (GRCm39) |
C462* |
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 |
|
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 |
|
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'- AAGGGTTGAGCTGACATCTGAATG -3'
(R):5'- GCTTCATTGGATTGGCTAATAGAACAG -3'
Sequencing Primer
(F):5'- AATCTGCGACTTCTTTTACCAATCAC -3'
(R):5'- TTGGCTAATAGAACAGAAGTTTGAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation