Incidental Mutation 'R8264:Lpar5'
| ID |
639726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpar5
|
| Ensembl Gene |
ENSMUSG00000067714 |
| Gene Name |
lysophosphatidic acid receptor 5 |
| Synonyms |
Gpr92, LOC381810, GPR93, LPA5 |
| MMRRC Submission |
067689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125044883-125059435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125058465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 62
(V62D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085630
(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: V62D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000085630
Gene: ENSMUSG00000067714
AA Change: V62D
| 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: V62D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119904
Gene: ENSMUSG00000067714
AA Change: V62D
| 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: V62D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132511
Gene: ENSMUSG00000067714
AA Change: V62D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
55 |
313 |
1.1e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.7091 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (51/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,773,543 (GRCm39) |
C911S |
probably damaging |
Het |
| Abcc4 |
T |
A |
14: 118,832,254 (GRCm39) |
N792I |
possibly damaging |
Het |
| Acacb |
A |
T |
5: 114,345,427 (GRCm39) |
H960L |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,092,873 (GRCm39) |
T162A |
possibly damaging |
Het |
| Cacna1g |
T |
C |
11: 94,364,392 (GRCm39) |
S18G |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,300 (GRCm39) |
I348N |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,016,648 (GRCm39) |
R12Q |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,795,971 (GRCm39) |
S136P |
possibly damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,357 (GRCm39) |
M2896K |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,148,755 (GRCm39) |
T215A |
probably damaging |
Het |
| Esyt2 |
A |
C |
12: 116,329,540 (GRCm39) |
Q699H |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,979,393 (GRCm39) |
T204A |
possibly damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,362,339 (GRCm39) |
S294P |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Galnt10 |
A |
G |
11: 57,673,032 (GRCm39) |
I463V |
probably benign |
Het |
| Glce |
A |
G |
9: 61,967,712 (GRCm39) |
F480L |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,506,709 (GRCm39) |
V11A |
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,593 (GRCm39) |
T191A |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,323,086 (GRCm39) |
|
silent |
Het |
| Izumo4 |
G |
T |
10: 80,538,572 (GRCm39) |
G8V |
|
Het |
| Klk1b5 |
T |
A |
7: 43,869,454 (GRCm39) |
L178H |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,343,218 (GRCm39) |
N85D |
probably benign |
Het |
| Liph |
A |
C |
16: 21,802,721 (GRCm39) |
I116R |
possibly damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,528 (GRCm39) |
I303F |
|
Het |
| Mymk |
A |
G |
2: 26,957,868 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
G |
A |
15: 25,800,195 (GRCm39) |
V1424M |
probably damaging |
Het |
| Myof |
T |
G |
19: 37,909,881 (GRCm39) |
Q1528P |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 27,006,038 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,884,738 (GRCm39) |
Y500N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,538 (GRCm39) |
D180G |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,682,543 (GRCm39) |
Y835C |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,711,030 (GRCm39) |
E95G |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,138 (GRCm39) |
N303K |
possibly damaging |
Het |
| Pnn |
C |
T |
12: 59,119,363 (GRCm39) |
H649Y |
unknown |
Het |
| Rab11fip1 |
G |
A |
8: 27,642,508 (GRCm39) |
Q764* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,175,370 (GRCm39) |
M1762K |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 51,980,290 (GRCm39) |
A496T |
noncoding transcript |
Het |
| Rnase13 |
A |
T |
14: 52,159,914 (GRCm39) |
V75D |
probably damaging |
Het |
| Sema3c |
G |
A |
5: 17,881,537 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
C |
G |
1: 36,591,966 (GRCm39) |
G266R |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,376 (GRCm39) |
D87V |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,290 (GRCm39) |
Y421C |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,271,867 (GRCm39) |
V188A |
probably benign |
Het |
| Srms |
A |
G |
2: 180,854,343 (GRCm39) |
Y75H |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,077 (GRCm39) |
G208S |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,072,390 (GRCm39) |
S2646P |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,042,330 (GRCm39) |
I1130V |
probably benign |
Het |
| Ttf1 |
A |
G |
2: 28,954,689 (GRCm39) |
K18E |
possibly damaging |
Het |
| Unc5b |
G |
T |
10: 60,604,113 (GRCm39) |
T827K |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,302,969 (GRCm39) |
T1672S |
possibly 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 |
|
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 |
|
|
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'- GGAGGTGAAAGTCATGCTCTG -3'
(R):5'- GCTGCCGTACATGTTCATCTG -3'
Sequencing Primer
(F):5'- ACGATGCCTCAGACTAATTTCTC -3'
(R):5'- ATCTGGAAGATGGCGCCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation