Incidental Mutation 'R7859:Vmn2r124'
| ID |
607388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r124
|
| Ensembl Gene |
ENSMUSG00000094396 |
| Gene Name |
vomeronasal 2, receptor 124 |
| Synonyms |
Vmn2r-ps113, Gm7196 |
| MMRRC Submission |
045912-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R7859 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18269746-18294482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18282212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 80
(Y80C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176802]
[ENSMUST00000231546]
|
| AlphaFold |
K7N789 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176802
AA Change: Y80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: Y80C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
84 |
449 |
2.2e-37 |
PFAM |
|
Pfam:NCD3G
|
510 |
563 |
9.3e-21 |
PFAM |
|
Pfam:7tm_3
|
596 |
831 |
1.6e-52 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231546
AA Change: T82A
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
| Arsb |
T |
A |
13: 93,998,615 (GRCm39) |
S308T |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,346,526 (GRCm39) |
D428G |
probably benign |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
| Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,683 (GRCm39) |
T223A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
| Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
| Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
| Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
| Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
| Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
| Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
| Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
| Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
| Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
| Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
| Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
| Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
| Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,687,220 (GRCm39) |
F374L |
possibly damaging |
Het |
| Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
| Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
| Usp54 |
T |
C |
14: 20,638,204 (GRCm39) |
E255G |
probably benign |
Het |
| Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
| Zfp457 |
A |
G |
13: 67,454,445 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r124 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:Vmn2r124
|
APN |
17 |
18,282,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01356:Vmn2r124
|
APN |
17 |
18,293,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01387:Vmn2r124
|
APN |
17 |
18,283,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01413:Vmn2r124
|
APN |
17 |
18,282,827 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01550:Vmn2r124
|
APN |
17 |
18,283,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01759:Vmn2r124
|
APN |
17 |
18,284,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01762:Vmn2r124
|
APN |
17 |
18,283,434 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02132:Vmn2r124
|
APN |
17 |
18,284,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02290:Vmn2r124
|
APN |
17 |
18,293,597 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02370:Vmn2r124
|
APN |
17 |
18,284,453 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02527:Vmn2r124
|
APN |
17 |
18,286,764 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4280001:Vmn2r124
|
UTSW |
17 |
18,283,487 (GRCm39) |
missense |
probably benign |
0.22 |
|
PIT4514001:Vmn2r124
|
UTSW |
17 |
18,293,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0362:Vmn2r124
|
UTSW |
17 |
18,284,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0401:Vmn2r124
|
UTSW |
17 |
18,284,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0513:Vmn2r124
|
UTSW |
17 |
18,293,991 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1139:Vmn2r124
|
UTSW |
17 |
18,294,052 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1513:Vmn2r124
|
UTSW |
17 |
18,283,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Vmn2r124
|
UTSW |
17 |
18,283,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1710:Vmn2r124
|
UTSW |
17 |
18,282,187 (GRCm39) |
splice site |
probably benign |
|
|
R1852:Vmn2r124
|
UTSW |
17 |
18,283,436 (GRCm39) |
missense |
probably benign |
|
|
R1860:Vmn2r124
|
UTSW |
17 |
18,269,759 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1953:Vmn2r124
|
UTSW |
17 |
18,283,122 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2233:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2234:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2235:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2397:Vmn2r124
|
UTSW |
17 |
18,269,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2519:Vmn2r124
|
UTSW |
17 |
18,294,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3846:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4594:Vmn2r124
|
UTSW |
17 |
18,294,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Vmn2r124
|
UTSW |
17 |
18,283,284 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4790:Vmn2r124
|
UTSW |
17 |
18,269,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Vmn2r124
|
UTSW |
17 |
18,294,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5227:Vmn2r124
|
UTSW |
17 |
18,269,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5254:Vmn2r124
|
UTSW |
17 |
18,283,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5609:Vmn2r124
|
UTSW |
17 |
18,294,102 (GRCm39) |
missense |
probably benign |
|
|
R6145:Vmn2r124
|
UTSW |
17 |
18,283,113 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6181:Vmn2r124
|
UTSW |
17 |
18,294,019 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6271:Vmn2r124
|
UTSW |
17 |
18,283,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7297:Vmn2r124
|
UTSW |
17 |
18,293,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Vmn2r124
|
UTSW |
17 |
18,282,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Vmn2r124
|
UTSW |
17 |
18,282,306 (GRCm39) |
missense |
unknown |
|
|
R7699:Vmn2r124
|
UTSW |
17 |
18,293,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8121:Vmn2r124
|
UTSW |
17 |
18,282,433 (GRCm39) |
missense |
probably benign |
|
|
R8138:Vmn2r124
|
UTSW |
17 |
18,283,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8756:Vmn2r124
|
UTSW |
17 |
18,294,094 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8796:Vmn2r124
|
UTSW |
17 |
18,282,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8841:Vmn2r124
|
UTSW |
17 |
18,283,299 (GRCm39) |
missense |
|
|
|
R8960:Vmn2r124
|
UTSW |
17 |
18,283,291 (GRCm39) |
nonsense |
probably null |
|
|
R8970:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9128:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9566:Vmn2r124
|
UTSW |
17 |
18,293,581 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9680:Vmn2r124
|
UTSW |
17 |
18,293,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAAAAGAGCTAGCCTAAACC -3'
(R):5'- GTGAGTGCAGCAGTGAAATTTC -3'
Sequencing Primer
(F):5'- AGAGCTAGCCTAAACCTAACATAC -3'
(R):5'- GCAGCAGTGAAATTTCTCTTTTTGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation