Incidental Mutation 'R4288:Lpar5'
| ID |
322104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpar5
|
| Ensembl Gene |
ENSMUSG00000067714 |
| Gene Name |
lysophosphatidic acid receptor 5 |
| Synonyms |
Gpr92, LOC381810, GPR93, LPA5 |
| MMRRC Submission |
041653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4288 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125044883-125059435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125058827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 183
(Y183H)
|
| 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 benign
Transcript: ENSMUST00000088292
AA Change: Y183H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000085630
Gene: ENSMUSG00000067714
AA Change: Y183H
| 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 benign
Transcript: ENSMUST00000140346
|
| SMART Domains |
Protein: ENSMUSP00000119904
Gene: ENSMUSG00000067714
| 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 benign
Transcript: ENSMUST00000171989
AA Change: Y183H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132511
Gene: ENSMUSG00000067714
AA Change: Y183H
| 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
|
| Meta Mutation Damage Score |
0.1179 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (34/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
G |
A |
1: 127,666,309 (GRCm39) |
V27M |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,912 (GRCm39) |
T311A |
probably benign |
Het |
| Adss2 |
G |
A |
1: 177,604,078 (GRCm39) |
R176W |
probably damaging |
Het |
| Akr7a5 |
T |
C |
4: 139,041,415 (GRCm39) |
V108A |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,246,728 (GRCm39) |
D209G |
possibly damaging |
Het |
| Bpnt2 |
A |
C |
4: 4,778,231 (GRCm39) |
V169G |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,012,693 (GRCm39) |
I285F |
probably damaging |
Het |
| Ctnna2 |
C |
T |
6: 77,582,204 (GRCm39) |
R339Q |
probably damaging |
Het |
| E130308A19Rik |
G |
A |
4: 59,690,308 (GRCm39) |
M47I |
probably benign |
Het |
| Exosc9 |
C |
T |
3: 36,617,365 (GRCm39) |
T373I |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,945,912 (GRCm39) |
S1602T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,895,207 (GRCm39) |
Y57H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Garin5b |
T |
A |
7: 4,773,722 (GRCm39) |
N58Y |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,088,922 (GRCm39) |
V381A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,920,414 (GRCm39) |
A644E |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ltn1 |
T |
A |
16: 87,194,876 (GRCm39) |
N1341I |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,149,312 (GRCm39) |
E2516D |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,844,951 (GRCm39) |
V614A |
probably damaging |
Het |
| Pogk |
A |
G |
1: 166,231,075 (GRCm39) |
L84P |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,968,642 (GRCm39) |
T994M |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,941,632 (GRCm39) |
S283G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,684 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,392 (GRCm39) |
L54P |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,666 (GRCm39) |
S658N |
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 |
|
|
R4019:Lpar5
|
UTSW |
6 |
125,058,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACGGCAGCTGTCTCTTTCTG -3'
(R):5'- TGATGAGATTGGCCAGCAG -3'
Sequencing Primer
(F):5'- TGATGCTCATCAACGTGGAC -3'
(R):5'- GGTCTTCCGTCGCCGTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation