Incidental Mutation 'R8796:Vmn2r124'
| ID |
671282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r124
|
| Ensembl Gene |
ENSMUSG00000094396 |
| Gene Name |
vomeronasal 2, receptor 124 |
| Synonyms |
Vmn2r-ps113, Gm7196 |
| MMRRC Submission |
068637-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R8796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18269746-18294482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18282933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 209
(M209T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176802]
[ENSMUST00000231546]
|
| AlphaFold |
K7N789 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176802
AA Change: M209T
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: M209T
| 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 |
probably benign
Transcript: ENSMUST00000231546
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,629,482 (GRCm39) |
T182S |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,297,248 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
A |
4: 40,179,037 (GRCm39) |
D345E |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,066,509 (GRCm39) |
V9A |
probably benign |
Het |
| Akap1 |
A |
C |
11: 88,730,498 (GRCm39) |
I597S |
probably damaging |
Het |
| B4galnt4 |
C |
T |
7: 140,647,488 (GRCm39) |
T385I |
probably damaging |
Het |
| Bbof1 |
A |
T |
12: 84,460,068 (GRCm39) |
T112S |
possibly damaging |
Het |
| Chd7 |
C |
A |
4: 8,838,691 (GRCm39) |
H1297N |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 137,003,351 (GRCm39) |
F147L |
probably damaging |
Het |
| Coq7 |
C |
T |
7: 118,126,640 (GRCm39) |
E143K |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,498 (GRCm39) |
N430S |
probably damaging |
Het |
| Cxcl12 |
G |
T |
6: 117,155,553 (GRCm39) |
K92N |
possibly damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,026 (GRCm39) |
F95S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,255,850 (GRCm39) |
H480L |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,165,320 (GRCm39) |
C14Y |
probably damaging |
Het |
| Gja5 |
A |
G |
3: 96,958,419 (GRCm39) |
I159V |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,785,123 (GRCm39) |
Q1487L |
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,675,158 (GRCm39) |
Q1168L |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,020 (GRCm39) |
Y214F |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,226,965 (GRCm39) |
K98E |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,117,146 (GRCm39) |
N2480K |
|
Het |
| Lrp1b |
A |
G |
2: 40,793,426 (GRCm39) |
C2610R |
|
Het |
| Mast4 |
T |
C |
13: 102,919,899 (GRCm39) |
Y536C |
probably benign |
Het |
| Ntrk1 |
A |
G |
3: 87,690,422 (GRCm39) |
S407P |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,297,129 (GRCm39) |
M527K |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,201 (GRCm39) |
V182A |
|
Het |
| Or5m9b |
G |
A |
2: 85,905,518 (GRCm39) |
V145M |
possibly damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,847,407 (GRCm39) |
S89P |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,860,017 (GRCm39) |
I1091T |
probably benign |
Het |
| Psg16 |
C |
A |
7: 16,827,814 (GRCm39) |
H166N |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,234,345 (GRCm39) |
Y332F |
probably damaging |
Het |
| Rab31 |
A |
T |
17: 66,079,529 (GRCm39) |
I4K |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,499,665 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,038,685 (GRCm39) |
S453G |
|
Het |
| Rxfp2 |
C |
T |
5: 149,942,262 (GRCm39) |
|
probably benign |
Het |
| S100a8 |
A |
G |
3: 90,576,865 (GRCm39) |
E6G |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,376 (GRCm39) |
K94E |
probably damaging |
Het |
| Sema4d |
A |
T |
13: 51,865,546 (GRCm39) |
F297I |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,848,723 (GRCm39) |
K287E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
| Skint6 |
G |
T |
4: 112,661,891 (GRCm39) |
T1231K |
possibly damaging |
Het |
| Slc35b3 |
C |
T |
13: 39,121,722 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,784 (GRCm39) |
M634K |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,460,190 (GRCm39) |
D1424G |
probably benign |
Het |
| Snx21 |
G |
A |
2: 164,628,749 (GRCm39) |
V131I |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,945,848 (GRCm39) |
V516A |
probably benign |
Het |
| Tas2r120 |
A |
T |
6: 132,634,081 (GRCm39) |
R54S |
probably damaging |
Het |
| Tmem109 |
A |
T |
19: 10,849,995 (GRCm39) |
L99Q |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,946,485 (GRCm39) |
S309P |
possibly damaging |
Het |
| Trav11 |
C |
T |
14: 53,757,227 (GRCm39) |
A85V |
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,653,314 (GRCm39) |
R12631C |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,917 (GRCm39) |
T678S |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,500 (GRCm39) |
M123L |
probably benign |
Het |
| Wdr41 |
T |
G |
13: 95,151,575 (GRCm39) |
L245R |
possibly damaging |
Het |
| Wwp2 |
G |
T |
8: 108,283,189 (GRCm39) |
G814W |
probably null |
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 |
|
R7859:Vmn2r124
|
UTSW |
17 |
18,282,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCAAGTCCTTGAAACGTACAAGC -3'
(R):5'- CATCCATATTTTCCCAGAATTTGGC -3'
Sequencing Primer
(F):5'- TGTAGCAACTGGAATGTGCC -3'
(R):5'- CATCTCCTCCCTAAAATCTGA -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation