Incidental Mutation 'R6910:Vmn2r-ps158'
| ID |
538976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r-ps158
|
| Ensembl Gene |
ENSMUSG00000091528 |
| Gene Name |
vomeronasal 2, receptor, pseudogene 158 |
| Synonyms |
Vmn2r126, Gm9268 |
| MMRRC Submission |
045002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42668222-42697530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42673475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 178
(F178L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166914]
[ENSMUST00000173815]
|
| AlphaFold |
E9Q0M3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166914
AA Change: F185L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129068
Gene: ENSMUSG00000091528
AA Change: F185L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
473 |
1.1e-41 |
PFAM |
|
Pfam:NCD3G
|
516 |
569 |
1.7e-23 |
PFAM |
|
Pfam:7tm_3
|
602 |
837 |
9.6e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173815
AA Change: F178L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000134441
Gene: ENSMUSG00000091528
AA Change: F178L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
467 |
5.3e-40 |
PFAM |
|
Pfam:NCD3G
|
509 |
562 |
4.6e-22 |
PFAM |
|
Pfam:7tm_3
|
594 |
831 |
1.1e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap54 |
A |
G |
10: 92,672,374 (GRCm39) |
S2899P |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,977 (GRCm39) |
W82R |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,965 (GRCm39) |
T781A |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,824 (GRCm39) |
D597G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,744,597 (GRCm39) |
T1598A |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,621,497 (GRCm39) |
F162S |
probably benign |
Het |
| Gm17655 |
T |
A |
5: 110,195,039 (GRCm39) |
R248* |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,135 (GRCm39) |
Y127H |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,909,875 (GRCm39) |
T463K |
probably damaging |
Het |
| Ift80 |
A |
C |
3: 68,835,068 (GRCm39) |
S458A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,098,459 (GRCm39) |
D1846G |
possibly damaging |
Het |
| Map3k8 |
A |
G |
18: 4,340,801 (GRCm39) |
I171T |
probably benign |
Het |
| Micu1 |
A |
G |
10: 59,576,489 (GRCm39) |
E115G |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,532,080 (GRCm39) |
V9A |
unknown |
Het |
| Ncoa7 |
T |
G |
10: 30,570,117 (GRCm39) |
I281L |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,980,976 (GRCm39) |
E54G |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,091,305 (GRCm39) |
A84V |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or11g27 |
G |
A |
14: 50,771,330 (GRCm39) |
V154M |
probably benign |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,285 (GRCm39) |
S349T |
probably damaging |
Het |
| R3hcc1 |
G |
A |
14: 69,935,024 (GRCm39) |
P454L |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,788,520 (GRCm39) |
D170G |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,570,447 (GRCm39) |
V151A |
probably damaging |
Het |
| Scp2 |
C |
A |
4: 107,962,283 (GRCm39) |
G81C |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,844,695 (GRCm39) |
T173A |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,998,887 (GRCm39) |
H8142R |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,772,272 (GRCm39) |
T520A |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,256 (GRCm39) |
S170P |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,733 (GRCm39) |
D54G |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,417,342 (GRCm39) |
E3041G |
unknown |
Het |
| Zfp1001 |
A |
T |
2: 150,165,987 (GRCm39) |
Q56L |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,975,828 (GRCm39) |
H699L |
probably damaging |
Het |
|
| Other mutations in Vmn2r-ps158 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01676:Vmn2r-ps158
|
APN |
7 |
42,674,133 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01753:Vmn2r-ps158
|
APN |
7 |
42,674,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02338:Vmn2r-ps158
|
APN |
7 |
42,697,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Vmn2r-ps158
|
APN |
7 |
42,673,092 (GRCm39) |
splice site |
probably benign |
|
|
R0751:Vmn2r-ps158
|
UTSW |
7 |
42,696,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0849:Vmn2r-ps158
|
UTSW |
7 |
42,674,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Vmn2r-ps158
|
UTSW |
7 |
42,672,639 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1617:Vmn2r-ps158
|
UTSW |
7 |
42,673,503 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1962:Vmn2r-ps158
|
UTSW |
7 |
42,696,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1999:Vmn2r-ps158
|
UTSW |
7 |
42,696,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Vmn2r-ps158
|
UTSW |
7 |
42,673,454 (GRCm39) |
missense |
probably benign |
|
|
R2434:Vmn2r-ps158
|
UTSW |
7 |
42,696,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3760:Vmn2r-ps158
|
UTSW |
7 |
42,673,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4562:Vmn2r-ps158
|
UTSW |
7 |
42,672,986 (GRCm39) |
nonsense |
probably null |
|
|
R4890:Vmn2r-ps158
|
UTSW |
7 |
42,697,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Vmn2r-ps158
|
UTSW |
7 |
42,672,684 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5597:Vmn2r-ps158
|
UTSW |
7 |
42,674,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6589:Vmn2r-ps158
|
UTSW |
7 |
42,673,022 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6831:Vmn2r-ps158
|
UTSW |
7 |
42,673,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Vmn2r-ps158
|
UTSW |
7 |
42,673,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Vmn2r-ps158
|
UTSW |
7 |
42,697,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7470:Vmn2r-ps158
|
UTSW |
7 |
42,697,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Vmn2r-ps158
|
UTSW |
7 |
42,697,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Vmn2r-ps158
|
UTSW |
7 |
42,672,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7677:Vmn2r-ps158
|
UTSW |
7 |
42,674,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Vmn2r-ps158
|
UTSW |
7 |
42,697,094 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8210:Vmn2r-ps158
|
UTSW |
7 |
42,673,462 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8379:Vmn2r-ps158
|
UTSW |
7 |
42,697,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Vmn2r-ps158
|
UTSW |
7 |
42,697,108 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8917:Vmn2r-ps158
|
UTSW |
7 |
42,697,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Vmn2r-ps158
|
UTSW |
7 |
42,673,965 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9375:Vmn2r-ps158
|
UTSW |
7 |
42,673,499 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9452:Vmn2r-ps158
|
UTSW |
7 |
42,697,257 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9647:Vmn2r-ps158
|
UTSW |
7 |
42,697,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTACTTGATGACAGATCCAC -3'
(R):5'- TTTTCACAAAGGCTAAGCAGATCC -3'
Sequencing Primer
(F):5'- GGTACTTGATGACAGATCCACATTTC -3'
(R):5'- AGGCTAAGCAGATCCTATTACTTTCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation