Incidental Mutation 'R4344:Vmn2r22'
| ID |
324263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r22
|
| Ensembl Gene |
ENSMUSG00000095486 |
| Gene Name |
vomeronasal 2, receptor 22 |
| Synonyms |
EG546913 |
| MMRRC Submission |
041101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123586717-123627594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123614756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 278
(G278D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170808]
|
| AlphaFold |
E9Q7S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170808
AA Change: G278D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132043
Gene: ENSMUSG00000095486
AA Change: G278D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
473 |
1.4e-32 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
2.2e-23 |
PFAM |
|
Pfam:7tm_3
|
601 |
838 |
1.2e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,865,829 (GRCm39) |
R5S |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,100,151 (GRCm39) |
L316F |
possibly damaging |
Het |
| Ccdc187 |
T |
A |
2: 26,170,681 (GRCm39) |
K599I |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
| Ces2a |
T |
G |
8: 105,463,766 (GRCm39) |
D159E |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,507,561 (GRCm39) |
A917V |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,072,866 (GRCm39) |
A196V |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,108,141 (GRCm39) |
S475P |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,450,321 (GRCm39) |
P156S |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,445,722 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Klk1b8 |
C |
A |
7: 43,595,186 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,264,968 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,873,051 (GRCm39) |
I2750K |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,666 (GRCm39) |
N2958S |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,591,106 (GRCm39) |
V163I |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,585,886 (GRCm39) |
W2475R |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 115,954,551 (GRCm39) |
C684Y |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,663,326 (GRCm39) |
H167L |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,886 (GRCm39) |
F165L |
possibly damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,865,749 (GRCm39) |
I482T |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,861,667 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,063,073 (GRCm39) |
A215T |
probably benign |
Het |
| Zmynd15 |
C |
T |
11: 70,351,894 (GRCm39) |
R38* |
probably null |
Het |
|
| Other mutations in Vmn2r22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Vmn2r22
|
APN |
6 |
123,615,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01764:Vmn2r22
|
APN |
6 |
123,627,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02037:Vmn2r22
|
APN |
6 |
123,626,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Vmn2r22
|
APN |
6 |
123,614,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Vmn2r22
|
APN |
6 |
123,615,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02440:Vmn2r22
|
APN |
6 |
123,614,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02663:Vmn2r22
|
APN |
6 |
123,626,117 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03101:Vmn2r22
|
APN |
6 |
123,614,295 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0266:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0348:Vmn2r22
|
UTSW |
6 |
123,614,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0780:Vmn2r22
|
UTSW |
6 |
123,614,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0849:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1074:Vmn2r22
|
UTSW |
6 |
123,626,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1456:Vmn2r22
|
UTSW |
6 |
123,614,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1719:Vmn2r22
|
UTSW |
6 |
123,614,802 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1989:Vmn2r22
|
UTSW |
6 |
123,614,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2928:Vmn2r22
|
UTSW |
6 |
123,614,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2939:Vmn2r22
|
UTSW |
6 |
123,614,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3727:Vmn2r22
|
UTSW |
6 |
123,627,584 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3782:Vmn2r22
|
UTSW |
6 |
123,627,591 (GRCm39) |
nonsense |
probably null |
|
|
R3873:Vmn2r22
|
UTSW |
6 |
123,614,339 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4407:Vmn2r22
|
UTSW |
6 |
123,614,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4430:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4431:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4701:Vmn2r22
|
UTSW |
6 |
123,627,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5274:Vmn2r22
|
UTSW |
6 |
123,627,593 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R5668:Vmn2r22
|
UTSW |
6 |
123,614,873 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5776:Vmn2r22
|
UTSW |
6 |
123,614,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Vmn2r22
|
UTSW |
6 |
123,614,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Vmn2r22
|
UTSW |
6 |
123,614,559 (GRCm39) |
missense |
not run |
|
|
R8208:Vmn2r22
|
UTSW |
6 |
123,614,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Vmn2r22
|
UTSW |
6 |
123,615,000 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8400:Vmn2r22
|
UTSW |
6 |
123,614,486 (GRCm39) |
nonsense |
probably null |
|
|
R8814:Vmn2r22
|
UTSW |
6 |
123,614,789 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8850:Vmn2r22
|
UTSW |
6 |
123,614,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9613:Vmn2r22
|
UTSW |
6 |
123,615,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGAATTTGATCCATGCGATC -3'
(R):5'- TCAGGGAATTATTCAACTGCTGC -3'
Sequencing Primer
(F):5'- CAGAAAATGATAATCCTCCACCAAAG -3'
(R):5'- GGCCTAGTAGTCCCAGATGATATTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation