Incidental Mutation 'R6316:Lpar6'
| ID |
509998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpar6
|
| Ensembl Gene |
ENSMUSG00000033446 |
| Gene Name |
lysophosphatidic acid receptor 6 |
| Synonyms |
2610302I02Rik, P2ry5, P2y5 |
| MMRRC Submission |
044416-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
73475331-73477798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73476774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 245
(Y245C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022701]
[ENSMUST00000044405]
|
| AlphaFold |
Q8BMC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022701
|
| SMART Domains |
Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
53 |
N/A |
INTRINSIC |
|
DUF3452
|
97 |
223 |
4.59e-25 |
SMART |
|
RB_A
|
367 |
567 |
5.53e-92 |
SMART |
|
CYCLIN
|
653 |
740 |
1.62e-5 |
SMART |
|
Rb_C
|
761 |
920 |
1.28e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044405
AA Change: Y245C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042327
Gene: ENSMUSG00000033446
AA Change: Y245C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
34 |
291 |
2.3e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170967
|
| Meta Mutation Damage Score |
0.8283 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,118 (GRCm39) |
T775A |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,196 (GRCm39) |
N523I |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,647,187 (GRCm39) |
T3118A |
possibly damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Asxl3 |
A |
G |
18: 22,655,839 (GRCm39) |
Y1283C |
probably damaging |
Het |
| Btbd2 |
T |
A |
10: 80,480,612 (GRCm39) |
I319F |
probably damaging |
Het |
| Eno4 |
G |
A |
19: 58,948,723 (GRCm39) |
|
probably null |
Het |
| Glis2 |
T |
A |
16: 4,431,700 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,757,277 (GRCm39) |
C395S |
probably benign |
Het |
| H1f8 |
T |
C |
6: 115,925,876 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
T |
A |
1: 66,774,744 (GRCm39) |
Y694F |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,308,632 (GRCm39) |
E332V |
probably damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,694,113 (GRCm39) |
E278G |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,905,027 (GRCm39) |
N160D |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,823,567 (GRCm39) |
N448S |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,028,467 (GRCm39) |
I457T |
possibly damaging |
Het |
| Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,860,481 (GRCm39) |
D321G |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,199 (GRCm39) |
C153S |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,553,115 (GRCm39) |
T4393A |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,356,787 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,768 (GRCm39) |
Y276C |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,720,822 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,615,943 (GRCm39) |
V69A |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,210 (GRCm39) |
V99A |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,204,709 (GRCm39) |
V196A |
probably benign |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,845,786 (GRCm39) |
H130R |
probably benign |
Het |
| Tead1 |
C |
A |
7: 112,491,046 (GRCm39) |
Q296K |
probably damaging |
Het |
| Thoc2l |
G |
C |
5: 104,667,595 (GRCm39) |
G706R |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,479,102 (GRCm39) |
S139N |
probably benign |
Het |
| Tor1aip2 |
G |
T |
1: 155,937,840 (GRCm39) |
D192Y |
probably damaging |
Het |
| Trgv2 |
G |
A |
13: 19,520,912 (GRCm39) |
Q61* |
probably null |
Het |
| Trib1 |
T |
C |
15: 59,521,264 (GRCm39) |
S85P |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,750,336 (GRCm39) |
N1581K |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,883,930 (GRCm39) |
Y563C |
probably damaging |
Het |
|
| Other mutations in Lpar6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Lpar6
|
APN |
14 |
73,476,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01611:Lpar6
|
APN |
14 |
73,476,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01618:Lpar6
|
APN |
14 |
73,476,506 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01676:Lpar6
|
APN |
14 |
73,477,010 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL03031:Lpar6
|
APN |
14 |
73,476,882 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03061:Lpar6
|
APN |
14 |
73,476,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1900:Lpar6
|
UTSW |
14 |
73,476,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2895:Lpar6
|
UTSW |
14 |
73,476,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2896:Lpar6
|
UTSW |
14 |
73,476,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3972:Lpar6
|
UTSW |
14 |
73,476,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4305:Lpar6
|
UTSW |
14 |
73,476,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Lpar6
|
UTSW |
14 |
73,476,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Lpar6
|
UTSW |
14 |
73,476,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Lpar6
|
UTSW |
14 |
73,476,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5133:Lpar6
|
UTSW |
14 |
73,476,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Lpar6
|
UTSW |
14 |
73,476,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5931:Lpar6
|
UTSW |
14 |
73,476,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Lpar6
|
UTSW |
14 |
73,476,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Lpar6
|
UTSW |
14 |
73,476,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7868:Lpar6
|
UTSW |
14 |
73,476,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8749:Lpar6
|
UTSW |
14 |
73,476,950 (GRCm39) |
missense |
probably benign |
|
|
R9098:Lpar6
|
UTSW |
14 |
73,476,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCCACATGGAAAACTTATCTC -3'
(R):5'- AGAGAACCTGGAGTCACTTCTTC -3'
Sequencing Primer
(F):5'- GGAAAACTTATCTCTCCAGGATTGTG -3'
(R):5'- GGAGTCACTTCTTCTAACCGACCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation