Incidental Mutation 'R4019:Lpar5'
| ID |
312681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpar5
|
| Ensembl Gene |
ENSMUSG00000067714 |
| Gene Name |
lysophosphatidic acid receptor 5 |
| Synonyms |
Gpr92, LOC381810, GPR93, LPA5 |
| MMRRC Submission |
040953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4019 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125044883-125059435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125058638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 120
(N120D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088292]
[ENSMUST00000140346]
[ENSMUST00000171989]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088292
AA Change: N120D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085630
Gene: ENSMUSG00000067714
AA Change: N120D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
55 |
313 |
7.4e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140346
AA Change: N120D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119904
Gene: ENSMUSG00000067714
AA Change: N120D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
55 |
164 |
1.5e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171989
AA Change: N120D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132511
Gene: ENSMUSG00000067714
AA Change: N120D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
55 |
313 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203956
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to neuropathic pain and myelin sheath alterations. Mice homozygous for a different targeted allele exhibit decreased nociception sensitivity, decreased anxiety-related response and enhanced coordination and spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
C |
9: 106,313,978 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,287,243 (GRCm39) |
R157Q |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,190,072 (GRCm39) |
S429T |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,017,335 (GRCm39) |
P208L |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,450,302 (GRCm39) |
R306H |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,664,401 (GRCm39) |
V909A |
probably damaging |
Het |
| Epg5 |
C |
A |
18: 78,073,665 (GRCm39) |
Q2511K |
probably damaging |
Het |
| Ghitm |
G |
A |
14: 36,852,651 (GRCm39) |
A143V |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
C |
7: 140,589,772 (GRCm39) |
T94A |
possibly damaging |
Het |
| Ift81 |
G |
A |
5: 122,731,192 (GRCm39) |
T321M |
probably benign |
Het |
| Ikbkb |
C |
T |
8: 23,161,728 (GRCm39) |
V387I |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,345,923 (GRCm39) |
I460V |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,532,520 (GRCm39) |
R1743G |
probably damaging |
Het |
| Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,371,154 (GRCm39) |
T311A |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,760,080 (GRCm39) |
I193T |
probably benign |
Het |
| Or52k2 |
T |
C |
7: 102,253,849 (GRCm39) |
F96S |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pdgfb |
A |
C |
15: 79,885,923 (GRCm39) |
V108G |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,214,357 (GRCm39) |
S846P |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,006,254 (GRCm39) |
H752L |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,356,295 (GRCm39) |
|
probably benign |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Sox8 |
A |
G |
17: 25,789,271 (GRCm39) |
Y76H |
probably damaging |
Het |
| Spdya |
A |
C |
17: 71,863,309 (GRCm39) |
K19N |
possibly damaging |
Het |
| Syngap1 |
C |
T |
17: 27,171,315 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tbl3 |
A |
G |
17: 24,923,695 (GRCm39) |
V239A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,901 (GRCm39) |
I1592V |
probably benign |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,074 (GRCm39) |
D427V |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,017 (GRCm39) |
K830R |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,474,580 (GRCm39) |
L816* |
probably null |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
probably damaging |
Het |
| Zfp777 |
T |
A |
6: 48,019,046 (GRCm39) |
Q296L |
probably damaging |
Het |
|
| Other mutations in Lpar5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Lpar5
|
APN |
6 |
125,058,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01830:Lpar5
|
APN |
6 |
125,058,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01975:Lpar5
|
APN |
6 |
125,058,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02021:Lpar5
|
APN |
6 |
125,058,955 (GRCm39) |
nonsense |
probably null |
|
|
IGL02718:Lpar5
|
APN |
6 |
125,059,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Lpar5
|
APN |
6 |
125,059,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03300:Lpar5
|
APN |
6 |
125,059,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Lpar5
|
UTSW |
6 |
125,058,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0633:Lpar5
|
UTSW |
6 |
125,058,954 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1639:Lpar5
|
UTSW |
6 |
125,058,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Lpar5
|
UTSW |
6 |
125,058,378 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2227:Lpar5
|
UTSW |
6 |
125,058,098 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4288:Lpar5
|
UTSW |
6 |
125,058,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4705:Lpar5
|
UTSW |
6 |
125,059,170 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4787:Lpar5
|
UTSW |
6 |
125,059,461 (GRCm39) |
splice site |
probably null |
|
|
R5027:Lpar5
|
UTSW |
6 |
125,059,110 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6114:Lpar5
|
UTSW |
6 |
125,058,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Lpar5
|
UTSW |
6 |
125,059,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7779:Lpar5
|
UTSW |
6 |
125,059,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Lpar5
|
UTSW |
6 |
125,058,302 (GRCm39) |
missense |
probably benign |
|
|
R8264:Lpar5
|
UTSW |
6 |
125,058,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9460:Lpar5
|
UTSW |
6 |
125,058,234 (GRCm39) |
start gained |
probably benign |
|
|
R9628:Lpar5
|
UTSW |
6 |
125,058,948 (GRCm39) |
missense |
probably damaging |
0.96 |
|
V7580:Lpar5
|
UTSW |
6 |
125,058,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
V7581:Lpar5
|
UTSW |
6 |
125,058,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
V7582:Lpar5
|
UTSW |
6 |
125,058,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Lpar5
|
UTSW |
6 |
125,059,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lpar5
|
UTSW |
6 |
125,058,342 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Lpar5
|
UTSW |
6 |
125,058,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGGTGGTCTACAGCCTGG -3'
(R):5'- TCTTGTACGTGCAGTGGGAC -3'
Sequencing Primer
(F):5'- GTATTGGCGACTGGTCTCCC -3'
(R):5'- TGGGACGGGCTGTGCAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation