Incidental Mutation 'R7020:Vmn2r105'
| ID |
545585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r105
|
| Ensembl Gene |
ENSMUSG00000091670 |
| Gene Name |
vomeronasal 2, receptor 105 |
| Synonyms |
EG627743 |
| MMRRC Submission |
045121-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
20428492-20455134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20429336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 580
(L580P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167382]
|
| AlphaFold |
E9Q3A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167382
AA Change: L580P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129762
Gene: ENSMUSG00000091670
AA Change: L580P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
85 |
469 |
6.5e-42 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
3.2e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
2.5e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
C |
T |
12: 110,634,975 (GRCm39) |
G188R |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,645,127 (GRCm39) |
Y384C |
probably damaging |
Het |
| Cd209b |
T |
A |
8: 3,968,783 (GRCm39) |
E282V |
probably damaging |
Het |
| Cep350 |
A |
C |
1: 155,804,077 (GRCm39) |
L1002W |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,275,754 (GRCm39) |
V292A |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,325 (GRCm39) |
I107T |
possibly damaging |
Het |
| Cntrob |
A |
G |
11: 69,193,918 (GRCm39) |
|
probably null |
Het |
| Crb1 |
A |
T |
1: 139,159,341 (GRCm39) |
S1294T |
possibly damaging |
Het |
| Cst13 |
T |
G |
2: 148,665,129 (GRCm39) |
Y41* |
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,139 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,123,619 (GRCm39) |
L427I |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,221,482 (GRCm39) |
S340P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
| Iglon5 |
A |
T |
7: 43,126,319 (GRCm39) |
C195S |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,002,195 (GRCm39) |
T100A |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,038,300 (GRCm39) |
S205L |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 142,231,795 (GRCm39) |
*424C |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,397,540 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,628 (GRCm39) |
K563* |
probably null |
Het |
| Myh7b |
T |
C |
2: 155,473,671 (GRCm39) |
I1568T |
possibly damaging |
Het |
| Myo15b |
G |
A |
11: 115,757,493 (GRCm39) |
W1114* |
probably null |
Het |
| Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,371,586 (GRCm39) |
T288A |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,331,594 (GRCm39) |
G859R |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,864 (GRCm39) |
R326W |
probably damaging |
Het |
| Or2a7 |
T |
C |
6: 43,151,096 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
| Or5g23 |
A |
G |
2: 85,438,976 (GRCm39) |
S93P |
probably benign |
Het |
| Ovol1 |
G |
A |
19: 5,610,261 (GRCm39) |
P23L |
probably damaging |
Het |
| Pappa2 |
C |
A |
1: 158,675,579 (GRCm39) |
V1056F |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,490,428 (GRCm39) |
L25S |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,277,743 (GRCm39) |
H860R |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,541 (GRCm39) |
H902Q |
probably damaging |
Het |
| Ptgs1 |
T |
G |
2: 36,141,041 (GRCm39) |
L496R |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,638 (GRCm39) |
Y1381* |
probably null |
Het |
| Rtl1 |
T |
C |
12: 109,558,749 (GRCm39) |
Q1030R |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,583,423 (GRCm39) |
Y2816F |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,253,153 (GRCm39) |
T340A |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,961,421 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
C |
1: 174,036,918 (GRCm39) |
L1143P |
probably damaging |
Het |
| St8sia5 |
T |
C |
18: 77,333,876 (GRCm39) |
I178T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,433,388 (GRCm39) |
N517S |
possibly damaging |
Het |
| Tcp11 |
A |
G |
17: 28,290,679 (GRCm39) |
Y227H |
possibly damaging |
Het |
| Usp34 |
A |
G |
11: 23,343,954 (GRCm39) |
D1411G |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,413,657 (GRCm39) |
E1200G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,355,913 (GRCm39) |
V3558A |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,903,463 (GRCm39) |
N1082S |
probably benign |
Het |
| Zbtb49 |
A |
T |
5: 38,370,711 (GRCm39) |
L390* |
probably null |
Het |
| Zfp639 |
C |
A |
3: 32,574,261 (GRCm39) |
D295E |
probably damaging |
Het |
|
| Other mutations in Vmn2r105 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Vmn2r105
|
APN |
17 |
20,448,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01909:Vmn2r105
|
APN |
17 |
20,444,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01925:Vmn2r105
|
APN |
17 |
20,428,973 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02021:Vmn2r105
|
APN |
17 |
20,448,157 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02828:Vmn2r105
|
APN |
17 |
20,429,345 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02838:Vmn2r105
|
APN |
17 |
20,447,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Vmn2r105
|
APN |
17 |
20,446,631 (GRCm39) |
nonsense |
probably null |
|
|
R0096:Vmn2r105
|
UTSW |
17 |
20,447,741 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0096:Vmn2r105
|
UTSW |
17 |
20,447,741 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0212:Vmn2r105
|
UTSW |
17 |
20,428,827 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0268:Vmn2r105
|
UTSW |
17 |
20,428,938 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0271:Vmn2r105
|
UTSW |
17 |
20,454,965 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0613:Vmn2r105
|
UTSW |
17 |
20,428,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Vmn2r105
|
UTSW |
17 |
20,448,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0765:Vmn2r105
|
UTSW |
17 |
20,447,973 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1162:Vmn2r105
|
UTSW |
17 |
20,447,973 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1263:Vmn2r105
|
UTSW |
17 |
20,428,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Vmn2r105
|
UTSW |
17 |
20,428,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Vmn2r105
|
UTSW |
17 |
20,449,004 (GRCm39) |
splice site |
probably benign |
|
|
R2029:Vmn2r105
|
UTSW |
17 |
20,444,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2420:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2421:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2422:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2570:Vmn2r105
|
UTSW |
17 |
20,447,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Vmn2r105
|
UTSW |
17 |
20,428,952 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3848:Vmn2r105
|
UTSW |
17 |
20,428,952 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4030:Vmn2r105
|
UTSW |
17 |
20,429,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4275:Vmn2r105
|
UTSW |
17 |
20,448,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Vmn2r105
|
UTSW |
17 |
20,446,613 (GRCm39) |
missense |
probably benign |
|
|
R4801:Vmn2r105
|
UTSW |
17 |
20,447,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4802:Vmn2r105
|
UTSW |
17 |
20,447,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Vmn2r105
|
UTSW |
17 |
20,428,953 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4929:Vmn2r105
|
UTSW |
17 |
20,448,280 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5022:Vmn2r105
|
UTSW |
17 |
20,428,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5475:Vmn2r105
|
UTSW |
17 |
20,455,044 (GRCm39) |
missense |
probably benign |
|
|
R5576:Vmn2r105
|
UTSW |
17 |
20,444,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5795:Vmn2r105
|
UTSW |
17 |
20,448,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5895:Vmn2r105
|
UTSW |
17 |
20,448,929 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6017:Vmn2r105
|
UTSW |
17 |
20,428,889 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6210:Vmn2r105
|
UTSW |
17 |
20,448,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6491:Vmn2r105
|
UTSW |
17 |
20,447,992 (GRCm39) |
nonsense |
probably null |
|
|
R6542:Vmn2r105
|
UTSW |
17 |
20,448,803 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6729:Vmn2r105
|
UTSW |
17 |
20,428,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7033:Vmn2r105
|
UTSW |
17 |
20,428,874 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7488:Vmn2r105
|
UTSW |
17 |
20,429,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Vmn2r105
|
UTSW |
17 |
20,448,827 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7555:Vmn2r105
|
UTSW |
17 |
20,447,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7863:Vmn2r105
|
UTSW |
17 |
20,428,937 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8137:Vmn2r105
|
UTSW |
17 |
20,454,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8166:Vmn2r105
|
UTSW |
17 |
20,428,904 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8186:Vmn2r105
|
UTSW |
17 |
20,444,880 (GRCm39) |
nonsense |
probably null |
|
|
R8214:Vmn2r105
|
UTSW |
17 |
20,448,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8497:Vmn2r105
|
UTSW |
17 |
20,455,134 (GRCm39) |
start codon destroyed |
probably null |
0.75 |
|
R8850:Vmn2r105
|
UTSW |
17 |
20,428,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Vmn2r105
|
UTSW |
17 |
20,429,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9272:Vmn2r105
|
UTSW |
17 |
20,447,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Vmn2r105
|
UTSW |
17 |
20,429,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9549:Vmn2r105
|
UTSW |
17 |
20,448,023 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGGCTGGCCAATGAAAG -3'
(R):5'- TGATCCAACTGAAGCCATCC -3'
Sequencing Primer
(F):5'- CTGGCCAATGAAAGTCAAAGAAC -3'
(R):5'- TGCCTCAGTAGTTATAGCAAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation