Incidental Mutation 'R6215:Vmn2r99'
| ID |
503679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r99
|
| Ensembl Gene |
ENSMUSG00000090304 |
| Gene Name |
vomeronasal 2, receptor 99 |
| Synonyms |
EG665376 |
| MMRRC Submission |
044348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
19361949-19401098 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19382558 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 525
(Q525R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
| AlphaFold |
H3BK37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176107
AA Change: Q525R
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: Q525R
| 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 benign
Transcript: ENSMUST00000231989
AA Change: Q525R
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415D10Rik |
T |
A |
10: 82,291,112 (GRCm38) |
K2021N |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,579,594 (GRCm38) |
W309* |
probably null |
Het |
| Aox1 |
G |
A |
1: 58,085,461 (GRCm38) |
V954I |
probably benign |
Het |
| Asnsd1 |
A |
C |
1: 53,348,028 (GRCm38) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,396,857 (GRCm38) |
K38E |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 29,200,239 (GRCm38) |
V339A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,798,909 (GRCm38) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,312,441 (GRCm38) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,356,554 (GRCm38) |
L981P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,122,445 (GRCm38) |
F132L |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,472,463 (GRCm38) |
P336S |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,662,152 (GRCm38) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 131,066,733 (GRCm38) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,613,336 (GRCm38) |
I205T |
probably benign |
Het |
| Efnb3 |
C |
A |
11: 69,556,765 (GRCm38) |
V181L |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,201,859 (GRCm38) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,069,365 (GRCm38) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,610,333 (GRCm38) |
L83* |
probably null |
Het |
| Gm10719 |
T |
A |
9: 3,019,040 (GRCm38) |
|
probably null |
Homo |
| Gm8890 |
C |
T |
5: 11,257,230 (GRCm38) |
T25I |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,433,741 (GRCm38) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,823,909 (GRCm38) |
A23P |
probably damaging |
Homo |
| Kcnj13 |
A |
G |
1: 87,386,534 (GRCm38) |
V322A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,852,565 (GRCm38) |
L617P |
probably damaging |
Het |
| Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,236,192 (GRCm38) |
|
probably benign |
Het |
| Olfr918 |
A |
G |
9: 38,673,214 (GRCm38) |
S90P |
probably benign |
Het |
| Osgin1 |
G |
A |
8: 119,445,444 (GRCm38) |
V326I |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,910,376 (GRCm38) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 109,949,433 (GRCm38) |
S515L |
probably damaging |
Het |
| Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm38) |
|
probably benign |
Het |
| Ppp2r5a |
T |
A |
1: 191,362,250 (GRCm38) |
Q191L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,539,775 (GRCm38) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,743,206 (GRCm38) |
A938T |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,495,036 (GRCm38) |
I1046V |
probably benign |
Het |
| Sh3glb2 |
T |
C |
2: 30,345,793 (GRCm38) |
E313G |
possibly damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,090,796 (GRCm38) |
Y541* |
probably null |
Het |
| Smtnl2 |
G |
A |
11: 72,401,399 (GRCm38) |
A274V |
probably damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,073,074 (GRCm38) |
V27A |
possibly damaging |
Het |
| Tmem116 |
C |
T |
5: 121,491,108 (GRCm38) |
T188M |
probably benign |
Het |
| Tmem2 |
C |
A |
19: 21,812,387 (GRCm38) |
N650K |
probably benign |
Het |
| Trim21 |
A |
G |
7: 102,559,439 (GRCm38) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,966,772 (GRCm38) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,880,208 (GRCm38) |
|
probably benign |
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 |
|
R6313:Vmn2r99
|
UTSW |
17 |
19,382,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6646:Vmn2r99
|
UTSW |
17 |
19,380,031 (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'- CTGGGAATTTCTGTTAGCTACTCC -3'
(R):5'- GACCTATTTCAAGGGTATTGTGATG -3'
Sequencing Primer
(F):5'- GGAATTTCTGTTAGCTACTCCACTTC -3'
(R):5'- AGGGTATTGTGATGAATATGACATTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation