Incidental Mutation 'R4117:Vmn2r42'
| ID |
315130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r42
|
| Ensembl Gene |
ENSMUSG00000070844 |
| Gene Name |
vomeronasal 2, receptor 42 |
| Synonyms |
V2r4 |
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R4117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
8186264-8203319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8197839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 260
(Y260C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086282]
[ENSMUST00000142934]
[ENSMUST00000146278]
|
| AlphaFold |
O35192 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086282
AA Change: Y260C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083463
Gene: ENSMUSG00000070844
AA Change: Y260C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
470 |
1.6e-33 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
8.1e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
2.8e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142934
AA Change: Y260C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123451
Gene: ENSMUSG00000070844
AA Change: Y260C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
7.4e-34 |
PFAM |
|
Pfam:NCD3G
|
512 |
563 |
4.2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146278
AA Change: Y260C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119761
Gene: ENSMUSG00000070844
AA Change: Y260C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
1.9e-33 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
6.7e-17 |
PFAM |
|
Pfam:7tm_3
|
548 |
784 |
2e-78 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
| Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
| Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
probably damaging |
Het |
|
| Other mutations in Vmn2r42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02444:Vmn2r42
|
APN |
7 |
8,187,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02793:Vmn2r42
|
APN |
7 |
8,197,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02875:Vmn2r42
|
APN |
7 |
8,197,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1743:Vmn2r42
|
UTSW |
7 |
8,187,264 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3943:Vmn2r42
|
UTSW |
7 |
8,197,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4760:Vmn2r42
|
UTSW |
7 |
8,187,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5233:Vmn2r42
|
UTSW |
7 |
8,197,837 (GRCm39) |
nonsense |
probably null |
|
|
R6245:Vmn2r42
|
UTSW |
7 |
8,195,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6683:Vmn2r42
|
UTSW |
7 |
8,187,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6709:Vmn2r42
|
UTSW |
7 |
8,195,618 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7396:Vmn2r42
|
UTSW |
7 |
8,195,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7450:Vmn2r42
|
UTSW |
7 |
8,187,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7583:Vmn2r42
|
UTSW |
7 |
8,197,740 (GRCm39) |
nonsense |
probably null |
|
|
R7973:Vmn2r42
|
UTSW |
7 |
8,197,872 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8777:Vmn2r42
|
UTSW |
7 |
8,195,692 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8777-TAIL:Vmn2r42
|
UTSW |
7 |
8,195,692 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8900:Vmn2r42
|
UTSW |
7 |
8,197,792 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8972:Vmn2r42
|
UTSW |
7 |
8,187,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Vmn2r42
|
UTSW |
7 |
8,197,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9453:Vmn2r42
|
UTSW |
7 |
8,187,295 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAAATCTCACCATGGTGG -3'
(R):5'- TGGCAATGGTCTCCTTCATAC -3'
Sequencing Primer
(F):5'- GTGATCCATAGAATGTGTCATGAC -3'
(R):5'- CCTTGTCATCCCAGATGAT -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation