Incidental Mutation 'R6646:Vmn2r99'
| ID |
527990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r99
|
| Ensembl Gene |
ENSMUSG00000090304 |
| Gene Name |
vomeronasal 2, receptor 99 |
| Synonyms |
EG665376 |
| MMRRC Submission |
044767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
19361949-19401098 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 19380031 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 439
(L439R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
| AlphaFold |
H3BK37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176107
AA Change: L439R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: L439R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
448 |
5.7e-33 |
PFAM |
|
Pfam:NCD3G
|
508 |
561 |
1.8e-21 |
PFAM |
|
Pfam:7tm_3
|
593 |
829 |
4.6e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231989
AA Change: L439R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415D10Rik |
T |
A |
10: 82,296,830 (GRCm38) |
E115D |
unknown |
Het |
| Ada |
G |
T |
2: 163,735,423 (GRCm38) |
N48K |
probably benign |
Het |
| Aldh1a7 |
C |
T |
19: 20,699,911 (GRCm38) |
A449T |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 97,939,494 (GRCm38) |
V1344A |
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,507,930 (GRCm38) |
E1371D |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 4,119,806 (GRCm38) |
A698T |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 25,203,613 (GRCm38) |
D307G |
probably damaging |
Het |
| Dennd6b |
G |
T |
15: 89,186,184 (GRCm38) |
F427L |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Homo |
| Doc2a |
G |
A |
7: 126,851,619 (GRCm38) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,268,807 (GRCm38) |
T6503A |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,806,310 (GRCm38) |
I922K |
probably damaging |
Het |
| Gbp9 |
A |
G |
5: 105,082,903 (GRCm38) |
I385T |
probably benign |
Het |
| Gipc2 |
A |
T |
3: 152,094,201 (GRCm38) |
D297E |
possibly damaging |
Het |
| Krt6b |
T |
A |
15: 101,677,214 (GRCm38) |
Q428L |
probably damaging |
Het |
| Loxl4 |
T |
C |
19: 42,598,781 (GRCm38) |
D625G |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,939,056 (GRCm38) |
P620S |
probably benign |
Het |
| Msh6 |
T |
C |
17: 87,986,442 (GRCm38) |
V875A |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,376,685 (GRCm38) |
T727A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,082,718 (GRCm38) |
D1929G |
possibly damaging |
Het |
| Pard3b |
T |
C |
1: 62,161,121 (GRCm38) |
V273A |
probably benign |
Het |
| Pcdhb7 |
T |
A |
18: 37,343,974 (GRCm38) |
V721E |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,589,978 (GRCm38) |
H82Q |
probably benign |
Het |
| Plcd1 |
T |
A |
9: 119,075,032 (GRCm38) |
Y278F |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 109,108,827 (GRCm38) |
H1214N |
probably benign |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Rela |
T |
G |
19: 5,647,104 (GRCm38) |
D446E |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,780,131 (GRCm38) |
I156V |
probably benign |
Het |
| Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
| Scx |
C |
A |
15: 76,457,921 (GRCm38) |
T107N |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,940,777 (GRCm38) |
K203I |
possibly damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,453,162 (GRCm38) |
M518I |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,325,549 (GRCm38) |
G940R |
probably damaging |
Het |
| Synm |
A |
T |
7: 67,735,127 (GRCm38) |
I487K |
probably damaging |
Het |
| Tcerg1l |
A |
T |
7: 138,395,183 (GRCm38) |
|
probably null |
Het |
| Wdr75 |
T |
A |
1: 45,799,087 (GRCm38) |
L52Q |
probably damaging |
Het |
| Zswim2 |
T |
A |
2: 83,915,784 (GRCm38) |
R437* |
probably null |
Het |
|
| Other mutations in Vmn2r99 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Vmn2r99
|
APN |
17 |
19,378,854 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01113:Vmn2r99
|
APN |
17 |
19,394,256 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01138:Vmn2r99
|
APN |
17 |
19,382,623 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01646:Vmn2r99
|
APN |
17 |
19,393,658 (GRCm38) |
splice site |
probably benign |
|
|
IGL01769:Vmn2r99
|
APN |
17 |
19,380,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02112:Vmn2r99
|
APN |
17 |
19,380,232 (GRCm38) |
missense |
probably null |
0.99 |
|
IGL02891:Vmn2r99
|
APN |
17 |
19,378,690 (GRCm38) |
nonsense |
probably null |
|
|
IGL03132:Vmn2r99
|
APN |
17 |
19,378,223 (GRCm38) |
nonsense |
probably null |
|
|
FR4548:Vmn2r99
|
UTSW |
17 |
19,394,285 (GRCm38) |
missense |
probably damaging |
0.97 |
|
FR4976:Vmn2r99
|
UTSW |
17 |
19,394,285 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4382001:Vmn2r99
|
UTSW |
17 |
19,394,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0196:Vmn2r99
|
UTSW |
17 |
19,394,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0720:Vmn2r99
|
UTSW |
17 |
19,379,043 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1501:Vmn2r99
|
UTSW |
17 |
19,362,259 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1519:Vmn2r99
|
UTSW |
17 |
19,380,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1670:Vmn2r99
|
UTSW |
17 |
19,362,252 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1682:Vmn2r99
|
UTSW |
17 |
19,377,945 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1873:Vmn2r99
|
UTSW |
17 |
19,362,153 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1967:Vmn2r99
|
UTSW |
17 |
19,378,815 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2101:Vmn2r99
|
UTSW |
17 |
19,377,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2474:Vmn2r99
|
UTSW |
17 |
19,378,629 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2519:Vmn2r99
|
UTSW |
17 |
19,378,708 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3911:Vmn2r99
|
UTSW |
17 |
19,394,373 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3947:Vmn2r99
|
UTSW |
17 |
19,378,990 (GRCm38) |
missense |
probably benign |
0.40 |
|
R3949:Vmn2r99
|
UTSW |
17 |
19,378,990 (GRCm38) |
missense |
probably benign |
0.40 |
|
R4016:Vmn2r99
|
UTSW |
17 |
19,378,570 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4413:Vmn2r99
|
UTSW |
17 |
19,379,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4594:Vmn2r99
|
UTSW |
17 |
19,393,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4999:Vmn2r99
|
UTSW |
17 |
19,362,135 (GRCm38) |
start codon destroyed |
probably null |
0.96 |
|
R5206:Vmn2r99
|
UTSW |
17 |
19,378,606 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5362:Vmn2r99
|
UTSW |
17 |
19,379,339 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5377:Vmn2r99
|
UTSW |
17 |
19,379,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5455:Vmn2r99
|
UTSW |
17 |
19,394,146 (GRCm38) |
nonsense |
probably null |
|
|
R6021:Vmn2r99
|
UTSW |
17 |
19,377,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6059:Vmn2r99
|
UTSW |
17 |
19,378,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6214:Vmn2r99
|
UTSW |
17 |
19,382,558 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6215:Vmn2r99
|
UTSW |
17 |
19,382,558 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6313:Vmn2r99
|
UTSW |
17 |
19,382,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6810:Vmn2r99
|
UTSW |
17 |
19,380,034 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6885:Vmn2r99
|
UTSW |
17 |
19,380,195 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R6991:Vmn2r99
|
UTSW |
17 |
19,378,110 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7060:Vmn2r99
|
UTSW |
17 |
19,394,564 (GRCm38) |
nonsense |
probably null |
|
|
R7090:Vmn2r99
|
UTSW |
17 |
19,393,710 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7094:Vmn2r99
|
UTSW |
17 |
19,379,311 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7449:Vmn2r99
|
UTSW |
17 |
19,379,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7789:Vmn2r99
|
UTSW |
17 |
19,393,817 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8039:Vmn2r99
|
UTSW |
17 |
19,380,040 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8493:Vmn2r99
|
UTSW |
17 |
19,393,758 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8511:Vmn2r99
|
UTSW |
17 |
19,394,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8715:Vmn2r99
|
UTSW |
17 |
19,393,660 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R9462:Vmn2r99
|
UTSW |
17 |
19,378,126 (GRCm38) |
nonsense |
probably null |
|
|
R9681:Vmn2r99
|
UTSW |
17 |
19,378,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9737:Vmn2r99
|
UTSW |
17 |
19,362,301 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Vmn2r99
|
UTSW |
17 |
19,379,301 (GRCm38) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAAGGAGTCTTGTTAGGTTTC -3'
(R):5'- TTCTGGCCATTGGATCATCTG -3'
Sequencing Primer
(F):5'- AGATCAGTTGTCATTGAGTGTTTAC -3'
(R):5'- GCCATTGGATCATCTGTTCAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation