Incidental Mutation 'R6304:Lpar1'
| ID |
509188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpar1
|
| Ensembl Gene |
ENSMUSG00000038668 |
| Gene Name |
lysophosphatidic acid receptor 1 |
| Synonyms |
Edg2, LPA1, vzg-1, Kdt2, Gpcr26 |
| MMRRC Submission |
044380-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
58435255-58553898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58487013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 86
(Y86C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055018]
[ENSMUST00000107570]
[ENSMUST00000107571]
[ENSMUST00000107574]
[ENSMUST00000107575]
[ENSMUST00000145361]
[ENSMUST00000155170]
[ENSMUST00000147354]
|
| AlphaFold |
P61793 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055018
AA Change: Y86C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052581
Gene: ENSMUSG00000038668
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
311 |
5.9e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107570
AA Change: Y68C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103196
Gene: ENSMUSG00000038668
AA Change: Y68C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
48 |
293 |
2.3e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107571
AA Change: Y86C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103197
Gene: ENSMUSG00000038668
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
311 |
1.3e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107574
AA Change: Y86C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103200
Gene: ENSMUSG00000038668
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
311 |
1.3e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107575
AA Change: Y86C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103201
Gene: ENSMUSG00000038668
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
311 |
1.3e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155170
|
| SMART Domains |
Protein: ENSMUSP00000121440
Gene: ENSMUSG00000038668
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147354
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mutations cause partial peri- and postnatal lethality, growth defects, craniofacial anomalies, and wide set eyes. Additional phenotypes include altered brain 5-HT and amino acids, reduced prepulse inhibition, impaired suckling, and increased apoptosis in sciatic nerve Schwann cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
| Cbll1 |
A |
G |
12: 31,544,588 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
T |
6: 22,016,922 (GRCm39) |
R90S |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,108,688 (GRCm39) |
L1905Q |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,944,553 (GRCm39) |
E266G |
probably benign |
Het |
| Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
| Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
| G6pc1 |
A |
G |
11: 101,258,735 (GRCm39) |
D38G |
probably damaging |
Het |
| Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
| Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
| Igsf9b |
C |
T |
9: 27,253,871 (GRCm39) |
R1354W |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,594,960 (GRCm39) |
Y703* |
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,295,084 (GRCm39) |
T1061K |
unknown |
Het |
| Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
| Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
| Miip |
T |
C |
4: 147,947,540 (GRCm39) |
M207V |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
| Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,289,654 (GRCm39) |
S604P |
probably damaging |
Het |
| Pcdhb6 |
C |
T |
18: 37,468,974 (GRCm39) |
R632* |
probably null |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,420 (GRCm39) |
V138E |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Pomt1 |
T |
A |
2: 32,140,802 (GRCm39) |
L478Q |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,755,196 (GRCm39) |
Y779F |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,233,857 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
A |
T |
17: 56,343,431 (GRCm39) |
F10Y |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,188 (GRCm39) |
V127I |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
| Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,746,079 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,721,443 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,164 (GRCm39) |
Q474R |
probably benign |
Het |
|
| Other mutations in Lpar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01735:Lpar1
|
APN |
4 |
58,437,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bijou
|
UTSW |
4 |
58,487,155 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
frenzied
|
UTSW |
4 |
58,437,346 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
helper
|
UTSW |
4 |
58,486,875 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0403:Lpar1
|
UTSW |
4 |
58,487,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Lpar1
|
UTSW |
4 |
58,486,798 (GRCm39) |
nonsense |
probably null |
|
|
R2312:Lpar1
|
UTSW |
4 |
58,487,168 (GRCm39) |
nonsense |
probably null |
|
|
R4279:Lpar1
|
UTSW |
4 |
58,487,115 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4762:Lpar1
|
UTSW |
4 |
58,437,346 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5391:Lpar1
|
UTSW |
4 |
58,486,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5500:Lpar1
|
UTSW |
4 |
58,486,573 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5619:Lpar1
|
UTSW |
4 |
58,487,155 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6208:Lpar1
|
UTSW |
4 |
58,504,630 (GRCm39) |
nonsense |
probably null |
|
|
R6464:Lpar1
|
UTSW |
4 |
58,486,875 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6593:Lpar1
|
UTSW |
4 |
58,486,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Lpar1
|
UTSW |
4 |
58,486,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7712:Lpar1
|
UTSW |
4 |
58,486,795 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8185:Lpar1
|
UTSW |
4 |
58,486,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8995:Lpar1
|
UTSW |
4 |
58,486,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9292:Lpar1
|
UTSW |
4 |
58,486,558 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9787:Lpar1
|
UTSW |
4 |
58,437,349 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAACCGTGATGTGCCTCTC -3'
(R):5'- CATGAACGAACAACAGTGCTTC -3'
Sequencing Primer
(F):5'- GATGTGCCTCTCGATAGCAATAGC -3'
(R):5'- CAGTGCTTCTACAATGAGTCTATCG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation