Incidental Mutation 'R7773:Vmn2r50'
| ID |
598710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
045829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9771562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 713
(H713L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
| AlphaFold |
E9PW61 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074943
AA Change: H729L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: H729L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
1.4e-32 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
2.9e-20 |
PFAM |
|
Pfam:7tm_3
|
597 |
833 |
1.3e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086298
AA Change: H713L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: H713L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
452 |
7e-31 |
PFAM |
|
Pfam:NCD3G
|
496 |
549 |
5.3e-19 |
PFAM |
|
Pfam:7tm_3
|
579 |
818 |
3.9e-78 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,206,180 (GRCm39) |
I336T |
probably benign |
Het |
| 4930519P11Rik |
T |
C |
2: 154,455,107 (GRCm39) |
Y84C |
unknown |
Het |
| 4930568D16Rik |
C |
T |
2: 35,244,606 (GRCm39) |
G249S |
probably damaging |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,430,047 (GRCm39) |
L314Q |
probably damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Agbl1 |
T |
A |
7: 76,348,585 (GRCm39) |
V894E |
unknown |
Het |
| Amigo3 |
T |
C |
9: 107,931,867 (GRCm39) |
L430P |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,883,146 (GRCm39) |
I341V |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,990,055 (GRCm39) |
S223P |
probably benign |
Het |
| Cacnb3 |
T |
C |
15: 98,537,819 (GRCm39) |
|
probably null |
Het |
| Ccdc63 |
G |
T |
5: 122,247,335 (GRCm39) |
N503K |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,879,120 (GRCm39) |
I225F |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,050 (GRCm39) |
T90A |
possibly damaging |
Het |
| Cd8a |
A |
G |
6: 71,350,799 (GRCm39) |
N88S |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,567,642 (GRCm39) |
V152A |
|
Het |
| Chid1 |
T |
C |
7: 141,109,518 (GRCm39) |
M123V |
probably benign |
Het |
| Cnnm4 |
T |
C |
1: 36,538,603 (GRCm39) |
V595A |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,449,870 (GRCm39) |
L630P |
probably damaging |
Het |
| Cpvl |
A |
G |
6: 53,908,890 (GRCm39) |
|
probably null |
Het |
| Edem3 |
A |
T |
1: 151,687,347 (GRCm39) |
K762* |
probably null |
Het |
| Elp6 |
T |
A |
9: 110,141,627 (GRCm39) |
|
probably null |
Het |
| Emilin3 |
A |
T |
2: 160,752,718 (GRCm39) |
Y77* |
probably null |
Het |
| Fam234b |
T |
A |
6: 135,220,912 (GRCm39) |
I641N |
probably benign |
Het |
| Farsa |
T |
C |
8: 85,590,781 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
C |
13: 31,811,182 (GRCm39) |
S374P |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,667 (GRCm39) |
I151N |
unknown |
Het |
| Gm9817 |
C |
T |
13: 45,232,427 (GRCm39) |
Q77* |
probably null |
Het |
| Gon4l |
A |
G |
3: 88,803,102 (GRCm39) |
K1238E |
probably benign |
Het |
| H13 |
A |
G |
2: 152,537,431 (GRCm39) |
Y292C |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,139,504 (GRCm39) |
N928S |
probably benign |
Het |
| Iqcf4 |
T |
C |
9: 106,445,812 (GRCm39) |
N112D |
probably benign |
Het |
| Jak3 |
A |
C |
8: 72,131,686 (GRCm39) |
T125P |
probably benign |
Het |
| Krt7 |
A |
C |
15: 101,311,913 (GRCm39) |
K124Q |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,114,169 (GRCm39) |
N83D |
probably damaging |
Het |
| Lrrc66 |
G |
A |
5: 73,764,664 (GRCm39) |
S793F |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,485,840 (GRCm39) |
V1074I |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,954,581 (GRCm39) |
D657G |
probably benign |
Het |
| Nt5el |
A |
G |
13: 105,218,793 (GRCm39) |
I42M |
probably damaging |
Het |
| Or5b113 |
T |
A |
19: 13,342,598 (GRCm39) |
V202E |
probably benign |
Het |
| Or8k21 |
T |
C |
2: 86,145,034 (GRCm39) |
I199V |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,941,548 (GRCm39) |
S24G |
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,762,610 (GRCm39) |
E1385* |
probably null |
Het |
| Poc5 |
A |
G |
13: 96,547,143 (GRCm39) |
T469A |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,596,222 (GRCm39) |
T296A |
probably benign |
Het |
| Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Rnf149 |
A |
C |
1: 39,604,299 (GRCm39) |
M188R |
possibly damaging |
Het |
| Rpl10l |
T |
C |
12: 66,331,041 (GRCm39) |
I31V |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,797,592 (GRCm39) |
S32P |
probably damaging |
Het |
| Sirt1 |
T |
A |
10: 63,162,562 (GRCm39) |
K137M |
possibly damaging |
Het |
| Smc4 |
A |
G |
3: 68,923,496 (GRCm39) |
Y251C |
probably damaging |
Het |
| Sod3 |
A |
C |
5: 52,525,643 (GRCm39) |
E114A |
possibly damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,288,368 (GRCm39) |
V431A |
probably benign |
Het |
| Tlr4 |
T |
C |
4: 66,757,836 (GRCm39) |
S210P |
probably damaging |
Het |
| Trub2 |
G |
T |
2: 29,676,520 (GRCm39) |
T70N |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,874,323 (GRCm39) |
C159S |
unknown |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,644 (GRCm39) |
I171F |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,378,514 (GRCm39) |
S43G |
unknown |
Het |
| Zfp638 |
T |
C |
6: 83,956,196 (GRCm39) |
I1601T |
probably damaging |
Het |
|
| Other mutations in Vmn2r50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01536:Vmn2r50
|
APN |
7 |
9,771,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Vmn2r50
|
APN |
7 |
9,771,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02358:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02871:Vmn2r50
|
APN |
7 |
9,781,714 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02962:Vmn2r50
|
APN |
7 |
9,784,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03187:Vmn2r50
|
APN |
7 |
9,771,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Vmn2r50
|
APN |
7 |
9,779,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4651001:Vmn2r50
|
UTSW |
7 |
9,771,659 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0530:Vmn2r50
|
UTSW |
7 |
9,781,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1291:Vmn2r50
|
UTSW |
7 |
9,771,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1438:Vmn2r50
|
UTSW |
7 |
9,784,062 (GRCm39) |
nonsense |
probably null |
|
|
R1713:Vmn2r50
|
UTSW |
7 |
9,771,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Vmn2r50
|
UTSW |
7 |
9,781,605 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1750:Vmn2r50
|
UTSW |
7 |
9,786,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1918:Vmn2r50
|
UTSW |
7 |
9,781,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2435:Vmn2r50
|
UTSW |
7 |
9,787,026 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2511:Vmn2r50
|
UTSW |
7 |
9,781,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3795:Vmn2r50
|
UTSW |
7 |
9,771,851 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4156:Vmn2r50
|
UTSW |
7 |
9,774,309 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4332:Vmn2r50
|
UTSW |
7 |
9,786,922 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4399:Vmn2r50
|
UTSW |
7 |
9,781,834 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4411:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4412:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4413:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4645:Vmn2r50
|
UTSW |
7 |
9,771,162 (GRCm39) |
makesense |
probably null |
|
|
R5151:Vmn2r50
|
UTSW |
7 |
9,786,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5175:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Vmn2r50
|
UTSW |
7 |
9,781,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Vmn2r50
|
UTSW |
7 |
9,781,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5559:Vmn2r50
|
UTSW |
7 |
9,771,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Vmn2r50
|
UTSW |
7 |
9,784,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5711:Vmn2r50
|
UTSW |
7 |
9,774,299 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5759:Vmn2r50
|
UTSW |
7 |
9,781,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r50
|
UTSW |
7 |
9,783,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6394:Vmn2r50
|
UTSW |
7 |
9,774,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6995:Vmn2r50
|
UTSW |
7 |
9,779,964 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Vmn2r50
|
UTSW |
7 |
9,771,684 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7019:Vmn2r50
|
UTSW |
7 |
9,784,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7027:Vmn2r50
|
UTSW |
7 |
9,781,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7343:Vmn2r50
|
UTSW |
7 |
9,784,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7554:Vmn2r50
|
UTSW |
7 |
9,784,066 (GRCm39) |
missense |
probably null |
0.00 |
|
R7704:Vmn2r50
|
UTSW |
7 |
9,781,665 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7768:Vmn2r50
|
UTSW |
7 |
9,771,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7975:Vmn2r50
|
UTSW |
7 |
9,771,272 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7987:Vmn2r50
|
UTSW |
7 |
9,772,016 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7996:Vmn2r50
|
UTSW |
7 |
9,781,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8062:Vmn2r50
|
UTSW |
7 |
9,774,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8396:Vmn2r50
|
UTSW |
7 |
9,781,639 (GRCm39) |
nonsense |
probably null |
|
|
R8466:Vmn2r50
|
UTSW |
7 |
9,783,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8985:Vmn2r50
|
UTSW |
7 |
9,779,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Vmn2r50
|
UTSW |
7 |
9,772,061 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9155:Vmn2r50
|
UTSW |
7 |
9,781,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9238:Vmn2r50
|
UTSW |
7 |
9,781,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9576:Vmn2r50
|
UTSW |
7 |
9,771,190 (GRCm39) |
missense |
probably benign |
|
|
R9626:Vmn2r50
|
UTSW |
7 |
9,771,960 (GRCm39) |
nonsense |
probably null |
|
|
R9631:Vmn2r50
|
UTSW |
7 |
9,786,990 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Vmn2r50
|
UTSW |
7 |
9,786,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r50
|
UTSW |
7 |
9,780,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Vmn2r50
|
UTSW |
7 |
9,771,427 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGTGCTATGGTAGACAGG -3'
(R):5'- GGCGAAAACAGTCACTGTGG -3'
Sequencing Primer
(F):5'- ACACTGAAGAACACTAGTATGCTG -3'
(R):5'- CGAAAACAGTCACTGTGGTTCTTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation