Incidental Mutation 'IGL02331:Pilra'
ID 288669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pilra
Ensembl Gene ENSMUSG00000046245
Gene Name paired immunoglobin-like type 2 receptor alpha
Synonyms FDF03
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02331
Quality Score
Status
Chromosome 5
Chromosomal Location 137820214-137834540 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 137833917 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q2YFS3
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: 105,862,170 (GRCm39) F241L possibly damaging Het
Alx1 A G 10: 102,858,160 (GRCm39) F180L possibly damaging Het
Apaf1 T C 10: 90,895,481 (GRCm39) D428G probably damaging Het
Arap2 G T 5: 62,807,025 (GRCm39) probably benign Het
Arnt2 A G 7: 83,914,832 (GRCm39) Y511H probably damaging Het
Bmp7 A T 2: 172,714,724 (GRCm39) C362S probably damaging Het
Bpifb9a A G 2: 154,104,307 (GRCm39) D250G possibly damaging Het
Ccnk T A 12: 108,155,343 (GRCm39) L100H probably damaging Het
Cdh23 T C 10: 60,301,322 (GRCm39) I451V probably damaging Het
Cemip A G 7: 83,613,192 (GRCm39) probably null Het
Cep78 T A 19: 15,951,779 (GRCm39) Q342L probably benign Het
Clca3b T C 3: 144,547,167 (GRCm39) probably benign Het
Cpb2 A G 14: 75,520,844 (GRCm39) R420G possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dbnl T C 11: 5,749,997 (GRCm39) *433R probably null Het
Elovl5 T C 9: 77,887,181 (GRCm39) S191P possibly damaging Het
Fbxo42 A G 4: 140,895,157 (GRCm39) E40G probably benign Het
Fpgt T C 3: 154,793,499 (GRCm39) D176G possibly damaging Het
Gm1110 C A 9: 26,824,583 (GRCm39) probably null Het
Grik4 A T 9: 42,453,284 (GRCm39) S700R probably damaging Het
Herc4 T C 10: 63,099,939 (GRCm39) S121P probably benign Het
Hps4 T C 5: 112,517,402 (GRCm39) V263A probably benign Het
Hsd11b1 A C 1: 192,922,924 (GRCm39) L81R probably damaging Het
Ift122 T C 6: 115,864,285 (GRCm39) M310T probably damaging Het
Isg20l2 G T 3: 87,839,394 (GRCm39) V202L probably damaging Het
Klf3 A G 5: 64,986,415 (GRCm39) K111E probably damaging Het
Kxd1 T C 8: 70,968,090 (GRCm39) T128A probably benign Het
Lgals7 A G 7: 28,565,143 (GRCm39) T94A probably benign Het
Lrp5 T C 19: 3,641,816 (GRCm39) H1382R possibly damaging Het
Muc6 T C 7: 141,226,726 (GRCm39) T1434A possibly damaging Het
Mybl2 C T 2: 162,916,605 (GRCm39) R419W probably damaging Het
Myo5b A T 18: 74,771,111 (GRCm39) probably null Het
Myo7a A G 7: 97,702,389 (GRCm39) V2138A possibly damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Ntrk2 T C 13: 58,994,670 (GRCm39) probably null Het
Or8g21 A G 9: 38,906,402 (GRCm39) S110P probably damaging Het
Osbpl5 A G 7: 143,263,532 (GRCm39) V105A probably benign Het
Pfkp A C 13: 6,647,996 (GRCm39) F527V probably benign Het
Pkdrej C A 15: 85,705,528 (GRCm39) C136F probably damaging Het
Ppp1r16a T A 15: 76,575,200 (GRCm39) M36K probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf40 T C 7: 127,188,999 (GRCm39) V124A probably benign Het
St7l A G 3: 104,833,904 (GRCm39) T522A probably damaging Het
Stox2 G A 8: 47,644,979 (GRCm39) P891L probably damaging Het
Trbv12-1 T C 6: 41,090,972 (GRCm39) S115P probably damaging Het
Trpm1 A G 7: 63,884,800 (GRCm39) D827G probably benign Het
Ttll6 T A 11: 96,026,573 (GRCm39) M119K probably damaging Het
Ufl1 C A 4: 25,251,971 (GRCm39) C568F probably damaging Het
Usp29 A T 7: 6,965,155 (GRCm39) I333F probably benign Het
Vta1 G A 10: 14,581,138 (GRCm39) T23M probably damaging Het
Zswim8 A G 14: 20,773,325 (GRCm39) D1771G probably damaging Het
Other mutations in Pilra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Pilra APN 5 137,833,803 (GRCm39) missense probably damaging 1.00
IGL02815:Pilra APN 5 137,829,567 (GRCm39) missense probably benign 0.00
IGL03067:Pilra APN 5 137,821,843 (GRCm39) missense probably damaging 0.99
R0032:Pilra UTSW 5 137,829,527 (GRCm39) missense probably damaging 1.00
R0032:Pilra UTSW 5 137,829,527 (GRCm39) missense probably damaging 1.00
R2851:Pilra UTSW 5 137,834,342 (GRCm39) missense probably benign 0.03
R2852:Pilra UTSW 5 137,834,342 (GRCm39) missense probably benign 0.03
R4250:Pilra UTSW 5 137,821,814 (GRCm39) missense probably benign 0.27
R4359:Pilra UTSW 5 137,829,576 (GRCm39) missense probably benign 0.00
R4655:Pilra UTSW 5 137,833,588 (GRCm39) splice site probably null
R4684:Pilra UTSW 5 137,833,777 (GRCm39) missense probably damaging 1.00
R4744:Pilra UTSW 5 137,833,769 (GRCm39) splice site probably null
R5001:Pilra UTSW 5 137,833,777 (GRCm39) missense probably damaging 1.00
R5072:Pilra UTSW 5 137,833,674 (GRCm39) missense probably damaging 0.97
R5073:Pilra UTSW 5 137,833,674 (GRCm39) missense probably damaging 0.97
R5074:Pilra UTSW 5 137,833,674 (GRCm39) missense probably damaging 0.97
R5337:Pilra UTSW 5 137,834,032 (GRCm39) intron probably benign
R5349:Pilra UTSW 5 137,829,488 (GRCm39) missense probably damaging 0.98
R5479:Pilra UTSW 5 137,834,318 (GRCm39) missense possibly damaging 0.48
R6233:Pilra UTSW 5 137,821,763 (GRCm39) missense possibly damaging 0.66
R6542:Pilra UTSW 5 137,820,237 (GRCm39) splice site probably null
R7103:Pilra UTSW 5 137,829,488 (GRCm39) missense possibly damaging 0.80
R7714:Pilra UTSW 5 137,833,679 (GRCm39) missense probably benign 0.06
R9174:Pilra UTSW 5 137,833,898 (GRCm39) missense probably damaging 1.00
R9570:Pilra UTSW 5 137,834,342 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16