Incidental Mutation 'IGL02331:Pilra'
ID288669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pilra
Ensembl Gene ENSMUSG00000046245
Gene Namepaired immunoglobin-like type 2 receptor alpha
SynonymsFDF03
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02331
Quality Score
Status
Chromosome5
Chromosomal Location137821952-137836281 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 137835655 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 47 (G47*)
Ref Sequence ENSEMBL: ENSMUSP00000142631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058897] [ENSMUST00000110980] [ENSMUST00000197586] [ENSMUST00000199028]
Predicted Effect probably null
Transcript: ENSMUST00000058897
AA Change: G50*
SMART Domains Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245
AA Change: G50*

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Blast:IG 45 155 3e-69 BLAST
low complexity region 156 176 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110980
AA Change: G47*
SMART Domains Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: G47*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Blast:IG 42 152 1e-68 BLAST
low complexity region 153 173 N/A INTRINSIC
transmembrane domain 194 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130460
Predicted Effect probably null
Transcript: ENSMUST00000197586
AA Change: G47*
SMART Domains Protein: ENSMUSP00000142631
Gene: ENSMUSG00000046245
AA Change: G47*

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Blast:IG 42 94 8e-31 BLAST
Predicted Effect silent
Transcript: ENSMUST00000199028
SMART Domains Protein: ENSMUSP00000142391
Gene: ENSMUSG00000046245

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased increased alanine transferase, blood urea nitrogen, lactate dehydrogenase, neutrophils and mortality and altered liver morphology (massive hemorrhage, disorganized hepatic cords and karyolysis of hepatocytes) following treatment with LPS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,971,344 F241L possibly damaging Het
Alx1 A G 10: 103,022,299 F180L possibly damaging Het
Apaf1 T C 10: 91,059,619 D428G probably damaging Het
Arap2 G T 5: 62,649,682 probably benign Het
Arnt2 A G 7: 84,265,624 Y511H probably damaging Het
Bmp7 A T 2: 172,872,931 C362S probably damaging Het
Bpifb9a A G 2: 154,262,387 D250G possibly damaging Het
Ccnk T A 12: 108,189,084 L100H probably damaging Het
Cdh23 T C 10: 60,465,543 I451V probably damaging Het
Cemip A G 7: 83,963,984 probably null Het
Cep78 T A 19: 15,974,415 Q342L probably benign Het
Clca3b T C 3: 144,841,406 probably benign Het
Cpb2 A G 14: 75,283,404 R420G possibly damaging Het
Cyp2c50 A T 19: 40,090,943 probably null Het
Dbnl T C 11: 5,799,997 *433R probably null Het
Elovl5 T C 9: 77,979,899 S191P possibly damaging Het
Fbxo42 A G 4: 141,167,846 E40G probably benign Het
Fpgt T C 3: 155,087,862 D176G possibly damaging Het
Gm1110 C A 9: 26,913,287 probably null Het
Grik4 A T 9: 42,541,988 S700R probably damaging Het
Herc4 T C 10: 63,264,160 S121P probably benign Het
Hps4 T C 5: 112,369,536 V263A probably benign Het
Hsd11b1 A C 1: 193,240,616 L81R probably damaging Het
Ift122 T C 6: 115,887,324 M310T probably damaging Het
Isg20l2 G T 3: 87,932,087 V202L probably damaging Het
Klf3 A G 5: 64,829,072 K111E probably damaging Het
Kxd1 T C 8: 70,515,440 T128A probably benign Het
Lgals7 A G 7: 28,865,718 T94A probably benign Het
Lrp5 T C 19: 3,591,816 H1382R possibly damaging Het
Muc6 T C 7: 141,640,459 T1434A possibly damaging Het
Mybl2 C T 2: 163,074,685 R419W probably damaging Het
Myo5b A T 18: 74,638,040 probably null Het
Myo7a A G 7: 98,053,182 V2138A possibly damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Ntrk2 T C 13: 58,846,856 probably null Het
Olfr935 A G 9: 38,995,106 S110P probably damaging Het
Osbpl5 A G 7: 143,709,795 V105A probably benign Het
Pfkp A C 13: 6,597,960 F527V probably benign Het
Pkdrej C A 15: 85,821,327 C136F probably damaging Het
Ppp1r16a T A 15: 76,691,000 M36K probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf40 T C 7: 127,589,827 V124A probably benign Het
St7l A G 3: 104,926,588 T522A probably damaging Het
Stox2 G A 8: 47,191,944 P891L probably damaging Het
Trbv12-1 T C 6: 41,114,038 S115P probably damaging Het
Trpm1 A G 7: 64,235,052 D827G probably benign Het
Ttll6 T A 11: 96,135,747 M119K probably damaging Het
Ufl1 C A 4: 25,251,971 C568F probably damaging Het
Usp29 A T 7: 6,962,156 I333F probably benign Het
Vta1 G A 10: 14,705,394 T23M probably damaging Het
Zswim8 A G 14: 20,723,257 D1771G probably damaging Het
Other mutations in Pilra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Pilra APN 5 137835541 missense probably damaging 1.00
IGL02815:Pilra APN 5 137831305 missense probably benign 0.00
IGL03067:Pilra APN 5 137823581 missense probably damaging 0.99
R0032:Pilra UTSW 5 137831265 missense probably damaging 1.00
R0032:Pilra UTSW 5 137831265 missense probably damaging 1.00
R2851:Pilra UTSW 5 137836080 missense probably benign 0.03
R2852:Pilra UTSW 5 137836080 missense probably benign 0.03
R4250:Pilra UTSW 5 137823552 missense probably benign 0.27
R4359:Pilra UTSW 5 137831314 missense probably benign 0.00
R4655:Pilra UTSW 5 137835326 splice site probably null
R4684:Pilra UTSW 5 137835515 missense probably damaging 1.00
R4744:Pilra UTSW 5 137835507 splice site probably null
R5001:Pilra UTSW 5 137835515 missense probably damaging 1.00
R5072:Pilra UTSW 5 137835412 missense probably damaging 0.97
R5073:Pilra UTSW 5 137835412 missense probably damaging 0.97
R5074:Pilra UTSW 5 137835412 missense probably damaging 0.97
R5337:Pilra UTSW 5 137835770 intron probably benign
R5349:Pilra UTSW 5 137831226 missense probably damaging 0.98
R5479:Pilra UTSW 5 137836056 missense possibly damaging 0.48
R6233:Pilra UTSW 5 137823501 missense possibly damaging 0.66
R6542:Pilra UTSW 5 137821975 splice site probably null
R7103:Pilra UTSW 5 137831226 missense possibly damaging 0.80
R7714:Pilra UTSW 5 137835417 missense probably benign 0.06
Posted On2015-04-16