Incidental Mutation 'R6007:Vmn2r107'
| ID |
479558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r107
|
| Ensembl Gene |
ENSMUSG00000056910 |
| Gene Name |
vomeronasal 2, receptor 107 |
| Synonyms |
V2r6 |
| MMRRC Submission |
044184-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R6007 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
20565687-20596034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20595316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 623
(Y623F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042090]
|
| AlphaFold |
E9PZJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042090
AA Change: Y623F
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000048706
Gene: ENSMUSG00000056910
AA Change: Y623F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
466 |
3.6e-40 |
PFAM |
|
Pfam:NCD3G
|
509 |
562 |
5.1e-21 |
PFAM |
|
Pfam:7tm_3
|
593 |
830 |
8e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
G |
T |
6: 83,137,900 (GRCm39) |
A9S |
possibly damaging |
Het |
| 4930407I10Rik |
C |
G |
15: 81,946,940 (GRCm39) |
T279S |
probably benign |
Het |
| A830018L16Rik |
A |
G |
1: 11,582,140 (GRCm39) |
|
probably null |
Het |
| Abcg5 |
T |
G |
17: 84,976,392 (GRCm39) |
I482L |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,748,462 (GRCm39) |
D44E |
probably damaging |
Het |
| Amh |
A |
G |
10: 80,641,305 (GRCm39) |
N75S |
probably benign |
Het |
| Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
T |
C |
2: 153,784,480 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,878 (GRCm39) |
E1449V |
probably null |
Het |
| Chml |
A |
G |
1: 175,515,594 (GRCm39) |
V109A |
probably benign |
Het |
| Crybg3 |
G |
T |
16: 59,374,837 (GRCm39) |
S2139* |
probably null |
Het |
| Cyp2c68 |
T |
C |
19: 39,722,780 (GRCm39) |
D256G |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,253,534 (GRCm39) |
V2315L |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,590,736 (GRCm39) |
I227V |
possibly damaging |
Het |
| Drg2 |
T |
C |
11: 60,353,451 (GRCm39) |
V266A |
possibly damaging |
Het |
| Flcn |
C |
A |
11: 59,683,448 (GRCm39) |
E576D |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,317,899 (GRCm39) |
D188E |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,639,323 (GRCm39) |
Q471R |
probably benign |
Het |
| Gm43772 |
T |
C |
5: 66,332,334 (GRCm39) |
|
probably benign |
Het |
| Gpc6 |
C |
T |
14: 118,188,673 (GRCm39) |
H436Y |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,226,628 (GRCm39) |
C1842* |
probably null |
Het |
| Ints8 |
G |
A |
4: 11,208,845 (GRCm39) |
T934I |
possibly damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,637,969 (GRCm39) |
C1050* |
probably null |
Het |
| Larp4b |
T |
C |
13: 9,218,793 (GRCm39) |
V510A |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,723,933 (GRCm39) |
D305V |
possibly damaging |
Het |
| Mc5r |
A |
T |
18: 68,472,318 (GRCm39) |
I226F |
possibly damaging |
Het |
| Mme |
G |
A |
3: 63,250,929 (GRCm39) |
W323* |
probably null |
Het |
| Mrpl24 |
A |
G |
3: 87,829,705 (GRCm39) |
Y97C |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,965,749 (GRCm39) |
S541N |
probably benign |
Het |
| Npepl1 |
T |
C |
2: 173,962,850 (GRCm39) |
V412A |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 39,194,409 (GRCm39) |
K117* |
probably null |
Het |
| Or11j4 |
G |
T |
14: 50,630,948 (GRCm39) |
C245F |
probably damaging |
Het |
| Or4f52 |
T |
C |
2: 111,061,275 (GRCm39) |
T288A |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,506,851 (GRCm39) |
M447K |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,843,426 (GRCm39) |
H1844Q |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,629,152 (GRCm39) |
I1541V |
possibly damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,010,293 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Rnf180 |
C |
A |
13: 105,317,957 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,099,216 (GRCm39) |
M625V |
probably benign |
Het |
| Synpo |
T |
A |
18: 60,736,687 (GRCm39) |
M420L |
probably benign |
Het |
| Tmem116 |
A |
C |
5: 121,655,955 (GRCm39) |
*147C |
probably null |
Het |
| Top2b |
G |
A |
14: 16,423,779 (GRCm38) |
|
probably null |
Het |
| Trp53bp2 |
T |
A |
1: 182,283,305 (GRCm39) |
C1014S |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,601,139 (GRCm39) |
F896L |
probably damaging |
Het |
| Vil1 |
T |
C |
1: 74,459,026 (GRCm39) |
W177R |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,289,535 (GRCm39) |
Y120C |
probably damaging |
Het |
| Wdr18 |
A |
G |
10: 79,801,177 (GRCm39) |
T197A |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,076,064 (GRCm39) |
M472V |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,918 (GRCm39) |
Y325C |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,605,478 (GRCm39) |
F407S |
probably damaging |
Het |
|
| Other mutations in Vmn2r107 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Vmn2r107
|
APN |
17 |
20,596,009 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01768:Vmn2r107
|
APN |
17 |
20,565,868 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02086:Vmn2r107
|
APN |
17 |
20,578,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02136:Vmn2r107
|
APN |
17 |
20,595,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02266:Vmn2r107
|
APN |
17 |
20,577,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02285:Vmn2r107
|
APN |
17 |
20,595,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02724:Vmn2r107
|
APN |
17 |
20,577,006 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02998:Vmn2r107
|
APN |
17 |
20,578,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03089:Vmn2r107
|
APN |
17 |
20,595,974 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03284:Vmn2r107
|
APN |
17 |
20,577,173 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03307:Vmn2r107
|
APN |
17 |
20,577,038 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03399:Vmn2r107
|
APN |
17 |
20,578,220 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Vmn2r107
|
UTSW |
17 |
20,565,766 (GRCm39) |
missense |
probably benign |
|
|
BB006:Vmn2r107
|
UTSW |
17 |
20,565,706 (GRCm39) |
missense |
probably null |
0.96 |
|
BB016:Vmn2r107
|
UTSW |
17 |
20,565,706 (GRCm39) |
missense |
probably null |
0.96 |
|
R0285:Vmn2r107
|
UTSW |
17 |
20,565,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0455:Vmn2r107
|
UTSW |
17 |
20,595,085 (GRCm39) |
splice site |
probably benign |
|
|
R0497:Vmn2r107
|
UTSW |
17 |
20,595,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Vmn2r107
|
UTSW |
17 |
20,578,021 (GRCm39) |
missense |
probably benign |
|
|
R0621:Vmn2r107
|
UTSW |
17 |
20,595,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0667:Vmn2r107
|
UTSW |
17 |
20,575,916 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1118:Vmn2r107
|
UTSW |
17 |
20,576,860 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1204:Vmn2r107
|
UTSW |
17 |
20,578,031 (GRCm39) |
missense |
probably benign |
|
|
R1237:Vmn2r107
|
UTSW |
17 |
20,576,947 (GRCm39) |
nonsense |
probably null |
|
|
R1485:Vmn2r107
|
UTSW |
17 |
20,595,109 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1783:Vmn2r107
|
UTSW |
17 |
20,576,775 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1873:Vmn2r107
|
UTSW |
17 |
20,565,840 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1974:Vmn2r107
|
UTSW |
17 |
20,575,879 (GRCm39) |
splice site |
probably null |
|
|
R2009:Vmn2r107
|
UTSW |
17 |
20,595,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2029:Vmn2r107
|
UTSW |
17 |
20,595,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2164:Vmn2r107
|
UTSW |
17 |
20,595,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Vmn2r107
|
UTSW |
17 |
20,595,817 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3087:Vmn2r107
|
UTSW |
17 |
20,580,607 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3740:Vmn2r107
|
UTSW |
17 |
20,595,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3961:Vmn2r107
|
UTSW |
17 |
20,595,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4031:Vmn2r107
|
UTSW |
17 |
20,595,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4270:Vmn2r107
|
UTSW |
17 |
20,576,041 (GRCm39) |
missense |
probably benign |
|
|
R4963:Vmn2r107
|
UTSW |
17 |
20,595,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Vmn2r107
|
UTSW |
17 |
20,576,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5640:Vmn2r107
|
UTSW |
17 |
20,595,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6238:Vmn2r107
|
UTSW |
17 |
20,565,849 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6298:Vmn2r107
|
UTSW |
17 |
20,576,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6467:Vmn2r107
|
UTSW |
17 |
20,595,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6726:Vmn2r107
|
UTSW |
17 |
20,595,637 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6782:Vmn2r107
|
UTSW |
17 |
20,577,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Vmn2r107
|
UTSW |
17 |
20,565,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7301:Vmn2r107
|
UTSW |
17 |
20,565,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7375:Vmn2r107
|
UTSW |
17 |
20,576,138 (GRCm39) |
missense |
probably benign |
|
|
R7448:Vmn2r107
|
UTSW |
17 |
20,595,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7495:Vmn2r107
|
UTSW |
17 |
20,595,271 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7589:Vmn2r107
|
UTSW |
17 |
20,595,634 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7594:Vmn2r107
|
UTSW |
17 |
20,580,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7678:Vmn2r107
|
UTSW |
17 |
20,576,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7929:Vmn2r107
|
UTSW |
17 |
20,565,706 (GRCm39) |
missense |
probably null |
0.96 |
|
R7974:Vmn2r107
|
UTSW |
17 |
20,577,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8040:Vmn2r107
|
UTSW |
17 |
20,595,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Vmn2r107
|
UTSW |
17 |
20,580,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Vmn2r107
|
UTSW |
17 |
20,577,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9175:Vmn2r107
|
UTSW |
17 |
20,577,051 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9537:Vmn2r107
|
UTSW |
17 |
20,595,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9642:Vmn2r107
|
UTSW |
17 |
20,580,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Vmn2r107
|
UTSW |
17 |
20,577,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Vmn2r107
|
UTSW |
17 |
20,577,230 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGACCAGTGTGTGAAGTGTCC -3'
(R):5'- CCTGGAAAACTGACCTTAAAGGC -3'
Sequencing Primer
(F):5'- AGTGTCCAGAGAGTCATTATGC -3'
(R):5'- CAAGAACCACAGTGATAGCTTTGGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation