Incidental Mutation 'R4091:Pla2r1'
| ID |
317593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2r1
|
| Ensembl Gene |
ENSMUSG00000054580 |
| Gene Name |
phospholipase A2 receptor 1 |
| Synonyms |
PLA2-I receptor, M-type receptor, Pla2g1br |
| MMRRC Submission |
041626-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
60247887-60383652 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60262937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1034
(N1034I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112525]
|
| AlphaFold |
Q62028 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067708
AA Change: N1034I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065205
Gene: ENSMUSG00000054580
AA Change: N1034I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
RICIN
|
42 |
154 |
2.98e-16 |
SMART |
|
FN2
|
174 |
222 |
1.17e-25 |
SMART |
|
CLECT
|
232 |
357 |
7.66e-30 |
SMART |
|
CLECT
|
380 |
504 |
1.88e-29 |
SMART |
|
CLECT
|
517 |
644 |
5.42e-21 |
SMART |
|
CLECT
|
664 |
797 |
3.58e-21 |
SMART |
|
CLECT
|
812 |
938 |
7.55e-20 |
SMART |
|
CLECT
|
957 |
1096 |
5.05e-30 |
SMART |
|
CLECT
|
1113 |
1232 |
4.72e-21 |
SMART |
|
CLECT
|
1246 |
1377 |
1.44e-25 |
SMART |
|
transmembrane domain
|
1397 |
1419 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112525
AA Change: N1034I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108144
Gene: ENSMUSG00000054580
AA Change: N1034I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
62 |
N/A |
INTRINSIC |
|
RICIN
|
77 |
189 |
2.98e-16 |
SMART |
|
FN2
|
209 |
257 |
1.17e-25 |
SMART |
|
CLECT
|
267 |
392 |
7.66e-30 |
SMART |
|
CLECT
|
415 |
539 |
1.88e-29 |
SMART |
|
CLECT
|
552 |
679 |
5.42e-21 |
SMART |
|
CLECT
|
699 |
832 |
3.58e-21 |
SMART |
|
CLECT
|
847 |
973 |
7.55e-20 |
SMART |
|
CLECT
|
992 |
1131 |
5.05e-30 |
SMART |
|
CLECT
|
1148 |
1267 |
4.72e-21 |
SMART |
|
CLECT
|
1281 |
1412 |
1.44e-25 |
SMART |
|
transmembrane domain
|
1432 |
1454 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6422 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,575,722 (GRCm39) |
S674P |
possibly damaging |
Het |
| Abca3 |
C |
T |
17: 24,616,456 (GRCm39) |
T966M |
probably damaging |
Het |
| Adam2 |
A |
T |
14: 66,267,172 (GRCm39) |
Y696N |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
G |
T |
6: 87,440,017 (GRCm39) |
S543R |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,084,738 (GRCm39) |
A3897T |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,221,682 (GRCm39) |
R191Q |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,611 (GRCm39) |
P895T |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,609,646 (GRCm39) |
I287F |
probably damaging |
Het |
| Cystm1 |
A |
G |
18: 36,499,600 (GRCm39) |
N5S |
unknown |
Het |
| Dnah8 |
T |
C |
17: 30,988,813 (GRCm39) |
V3261A |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,550 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,266 (GRCm39) |
S1847P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,131,881 (GRCm39) |
V1642A |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,730,242 (GRCm39) |
|
probably null |
Het |
| Fam221b |
A |
G |
4: 43,665,987 (GRCm39) |
I208T |
probably benign |
Het |
| Gpr141b |
T |
A |
13: 19,913,635 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,301 (GRCm39) |
I255V |
probably benign |
Het |
| Grm7 |
G |
A |
6: 110,891,301 (GRCm39) |
S178N |
probably damaging |
Het |
| Hspa12b |
T |
A |
2: 130,975,408 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
T |
1: 188,727,917 (GRCm39) |
|
probably benign |
Het |
| Kynu |
G |
A |
2: 43,569,884 (GRCm39) |
V389M |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,666,538 (GRCm39) |
L328P |
probably benign |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Maml1 |
G |
A |
11: 50,182,656 (GRCm39) |
P78L |
probably benign |
Het |
| Mef2b |
G |
A |
8: 70,617,752 (GRCm39) |
V37M |
probably damaging |
Het |
| Mindy2 |
A |
T |
9: 70,541,342 (GRCm39) |
M281K |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,245,943 (GRCm39) |
V394E |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,282,415 (GRCm39) |
T745S |
possibly damaging |
Het |
| Nme9 |
T |
A |
9: 99,346,580 (GRCm39) |
D131E |
possibly damaging |
Het |
| Nphp4 |
C |
A |
4: 152,631,475 (GRCm39) |
Q792K |
probably damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,523,444 (GRCm39) |
C479S |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,871 (GRCm39) |
I406T |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,467,650 (GRCm39) |
A237V |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,143 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,330 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,757,960 (GRCm39) |
T197A |
probably benign |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,552,068 (GRCm39) |
D744E |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,887 (GRCm39) |
N125D |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,381,909 (GRCm39) |
V121M |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,993,897 (GRCm39) |
D247E |
possibly damaging |
Het |
| Smg9 |
T |
A |
7: 24,120,292 (GRCm39) |
L422Q |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tle5 |
G |
A |
10: 81,401,418 (GRCm39) |
G162D |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,585,915 (GRCm39) |
D954V |
probably benign |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r11 |
A |
C |
5: 109,202,616 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,238 (GRCm39) |
M200K |
probably damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,652,883 (GRCm39) |
Y469N |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,905,279 (GRCm39) |
N600S |
probably null |
Het |
| Wdfy4 |
T |
G |
14: 32,847,837 (GRCm39) |
R838S |
possibly damaging |
Het |
|
| Other mutations in Pla2r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Pla2r1
|
APN |
2 |
60,250,769 (GRCm39) |
missense |
probably benign |
|
|
IGL00886:Pla2r1
|
APN |
2 |
60,254,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00928:Pla2r1
|
APN |
2 |
60,365,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01361:Pla2r1
|
APN |
2 |
60,309,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01403:Pla2r1
|
APN |
2 |
60,254,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01475:Pla2r1
|
APN |
2 |
60,271,425 (GRCm39) |
splice site |
probably benign |
|
|
IGL01517:Pla2r1
|
APN |
2 |
60,334,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Pla2r1
|
APN |
2 |
60,325,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02208:Pla2r1
|
APN |
2 |
60,258,932 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02301:Pla2r1
|
APN |
2 |
60,282,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02522:Pla2r1
|
APN |
2 |
60,259,013 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02688:Pla2r1
|
APN |
2 |
60,285,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02822:Pla2r1
|
APN |
2 |
60,285,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Pla2r1
|
APN |
2 |
60,332,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03233:Pla2r1
|
APN |
2 |
60,258,924 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03350:Pla2r1
|
APN |
2 |
60,285,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02980:Pla2r1
|
UTSW |
2 |
60,345,390 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0105:Pla2r1
|
UTSW |
2 |
60,345,325 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0105:Pla2r1
|
UTSW |
2 |
60,345,325 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0387:Pla2r1
|
UTSW |
2 |
60,262,945 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0522:Pla2r1
|
UTSW |
2 |
60,309,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0550:Pla2r1
|
UTSW |
2 |
60,255,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0718:Pla2r1
|
UTSW |
2 |
60,309,874 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0906:Pla2r1
|
UTSW |
2 |
60,345,291 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0945:Pla2r1
|
UTSW |
2 |
60,288,754 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1229:Pla2r1
|
UTSW |
2 |
60,365,106 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1397:Pla2r1
|
UTSW |
2 |
60,365,106 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1667:Pla2r1
|
UTSW |
2 |
60,250,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1668:Pla2r1
|
UTSW |
2 |
60,258,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1694:Pla2r1
|
UTSW |
2 |
60,271,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1864:Pla2r1
|
UTSW |
2 |
60,259,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2029:Pla2r1
|
UTSW |
2 |
60,262,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2035:Pla2r1
|
UTSW |
2 |
60,253,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Pla2r1
|
UTSW |
2 |
60,288,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2429:Pla2r1
|
UTSW |
2 |
60,345,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Pla2r1
|
UTSW |
2 |
60,353,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Pla2r1
|
UTSW |
2 |
60,279,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Pla2r1
|
UTSW |
2 |
60,279,306 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4006:Pla2r1
|
UTSW |
2 |
60,353,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4158:Pla2r1
|
UTSW |
2 |
60,252,966 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4160:Pla2r1
|
UTSW |
2 |
60,252,966 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4168:Pla2r1
|
UTSW |
2 |
60,327,958 (GRCm39) |
nonsense |
probably null |
|
|
R4541:Pla2r1
|
UTSW |
2 |
60,258,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4712:Pla2r1
|
UTSW |
2 |
60,258,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Pla2r1
|
UTSW |
2 |
60,334,524 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4884:Pla2r1
|
UTSW |
2 |
60,365,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Pla2r1
|
UTSW |
2 |
60,253,056 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5017:Pla2r1
|
UTSW |
2 |
60,353,104 (GRCm39) |
splice site |
probably null |
|
|
R5116:Pla2r1
|
UTSW |
2 |
60,279,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Pla2r1
|
UTSW |
2 |
60,345,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Pla2r1
|
UTSW |
2 |
60,259,065 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5898:Pla2r1
|
UTSW |
2 |
60,253,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Pla2r1
|
UTSW |
2 |
60,332,543 (GRCm39) |
splice site |
probably null |
|
|
R6923:Pla2r1
|
UTSW |
2 |
60,345,310 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7020:Pla2r1
|
UTSW |
2 |
60,277,743 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7028:Pla2r1
|
UTSW |
2 |
60,288,737 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7257:Pla2r1
|
UTSW |
2 |
60,257,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7291:Pla2r1
|
UTSW |
2 |
60,360,779 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7350:Pla2r1
|
UTSW |
2 |
60,288,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7451:Pla2r1
|
UTSW |
2 |
60,365,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Pla2r1
|
UTSW |
2 |
60,353,243 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7635:Pla2r1
|
UTSW |
2 |
60,365,106 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7768:Pla2r1
|
UTSW |
2 |
60,279,290 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7774:Pla2r1
|
UTSW |
2 |
60,360,802 (GRCm39) |
nonsense |
probably null |
|
|
R7782:Pla2r1
|
UTSW |
2 |
60,334,531 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7832:Pla2r1
|
UTSW |
2 |
60,334,536 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7843:Pla2r1
|
UTSW |
2 |
60,277,819 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7900:Pla2r1
|
UTSW |
2 |
60,258,858 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8010:Pla2r1
|
UTSW |
2 |
60,345,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8129:Pla2r1
|
UTSW |
2 |
60,262,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Pla2r1
|
UTSW |
2 |
60,253,027 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8347:Pla2r1
|
UTSW |
2 |
60,365,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8359:Pla2r1
|
UTSW |
2 |
60,273,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8682:Pla2r1
|
UTSW |
2 |
60,253,120 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8845:Pla2r1
|
UTSW |
2 |
60,259,053 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8901:Pla2r1
|
UTSW |
2 |
60,332,400 (GRCm39) |
missense |
|
|
|
R9085:Pla2r1
|
UTSW |
2 |
60,255,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9130:Pla2r1
|
UTSW |
2 |
60,325,729 (GRCm39) |
intron |
probably benign |
|
|
R9140:Pla2r1
|
UTSW |
2 |
60,271,455 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9399:Pla2r1
|
UTSW |
2 |
60,282,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9449:Pla2r1
|
UTSW |
2 |
60,258,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATAGCTTCAAAATGTGGGGAG -3'
(R):5'- CATTTCTGTGAACAGCATTTGC -3'
Sequencing Primer
(F):5'- AGTCAATAAGTCTCAGGTATGATCTC -3'
(R):5'- GCTGACCACCTGATGACTTGTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation