Incidental Mutation 'IGL01610:Pilra'
ID 91993
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: 0.074) question?
Stock # IGL01610
Quality Score
Status
Chromosome 5
Chromosomal Location 137820214-137834540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137833803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 85 (I85F)
Ref Sequence ENSEMBL: ENSMUSP00000142631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058897] [ENSMUST00000110980] [ENSMUST00000197586] [ENSMUST00000199028]
AlphaFold Q2YFS3
Predicted Effect probably damaging
Transcript: ENSMUST00000058897
AA Change: I88F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245
AA Change: I88F

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 damaging
Transcript: ENSMUST00000110980
AA Change: I85F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: I85F

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 damaging
Transcript: ENSMUST00000197586
AA Change: I85F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142631
Gene: ENSMUSG00000046245
AA Change: I85F

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Blast:IG 42 94 8e-31 BLAST
Predicted Effect probably benign
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,332,633 (GRCm39) probably benign Het
4921524J17Rik T C 8: 86,138,871 (GRCm39) I73V probably benign Het
4930562C15Rik T A 16: 4,669,429 (GRCm39) probably benign Het
Abca15 T A 7: 119,939,867 (GRCm39) V323D probably damaging Het
Acot10 T C 15: 20,665,781 (GRCm39) Y320C probably damaging Het
Acp6 T A 3: 97,083,036 (GRCm39) V349D possibly damaging Het
Adcy9 G T 16: 4,235,978 (GRCm39) Q478K probably damaging Het
Akap13 A G 7: 75,369,928 (GRCm39) I1843V possibly damaging Het
Akap13 A T 7: 75,397,353 (GRCm39) I2528F probably damaging Het
Akap9 G A 5: 4,082,839 (GRCm39) A1988T possibly damaging Het
Alox5 C T 6: 116,390,508 (GRCm39) V490M probably damaging Het
Aspm C T 1: 139,417,408 (GRCm39) R1537* probably null Het
Bmf G A 2: 118,379,639 (GRCm39) P46S probably benign Het
Brf1 T A 12: 112,951,703 (GRCm39) H92L probably benign Het
Chchd1 A G 14: 20,753,245 (GRCm39) N35S probably benign Het
Cntnap3 C T 13: 64,905,115 (GRCm39) G889S probably damaging Het
Col6a4 T C 9: 105,924,906 (GRCm39) probably benign Het
Crispld1 A G 1: 17,816,949 (GRCm39) probably null Het
Ddx27 T C 2: 166,863,964 (GRCm39) probably benign Het
Dennd1b A G 1: 139,097,504 (GRCm39) probably benign Het
Dennd4a T C 9: 64,814,166 (GRCm39) V1461A probably damaging Het
Drc7 C T 8: 95,804,430 (GRCm39) R843W probably damaging Het
Dync2li1 A G 17: 84,935,742 (GRCm39) E13G probably damaging Het
Egf A G 3: 129,499,909 (GRCm39) probably benign Het
Hpse2 T C 19: 43,373,228 (GRCm39) S134G probably benign Het
Hydin A G 8: 111,284,345 (GRCm39) T3206A probably benign Het
Ier5l T A 2: 30,363,966 (GRCm39) S20C probably damaging Het
Il1r1 A G 1: 40,341,560 (GRCm39) E324G probably benign Het
Kdm4b C T 17: 56,660,522 (GRCm39) probably benign Het
Lztfl1 T A 9: 123,529,156 (GRCm39) E298D probably benign Het
Myo1b A T 1: 51,815,405 (GRCm39) M647K probably damaging Het
Or13a25 C T 7: 140,247,584 (GRCm39) A128V probably damaging Het
Or52z14 A T 7: 103,253,274 (GRCm39) T138S probably benign Het
Or5j1 G T 2: 86,878,632 (GRCm39) probably benign Het
Parvb A T 15: 84,187,666 (GRCm39) K258M probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pcnx2 C A 8: 126,566,372 (GRCm39) A1024S possibly damaging Het
Pde4a T C 9: 21,122,646 (GRCm39) probably benign Het
Pgr A T 9: 8,903,692 (GRCm39) H571L possibly damaging Het
Phf20 G T 2: 156,144,809 (GRCm39) E806* probably null Het
Pla2g2f C T 4: 138,480,622 (GRCm39) V125M probably damaging Het
Rb1cc1 A G 1: 6,318,705 (GRCm39) N708S probably benign Het
Resf1 C T 6: 149,230,449 (GRCm39) T1165M probably benign Het
Rnase4 A T 14: 51,342,378 (GRCm39) Y34F probably damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpl9-ps6 T A 19: 32,443,699 (GRCm39) T85S probably benign Het
Scaf8 C T 17: 3,246,124 (GRCm39) P738S probably damaging Het
Sec31a A T 5: 100,550,217 (GRCm39) probably benign Het
Sel1l C T 12: 91,784,064 (GRCm39) V459I probably damaging Het
Senp7 A T 16: 55,996,186 (GRCm39) D755V possibly damaging Het
Serpinb9d A T 13: 33,381,985 (GRCm39) K151N probably benign Het
Slc8a3 A G 12: 81,362,576 (GRCm39) F81S probably damaging Het
Spire2 T A 8: 124,083,502 (GRCm39) L162Q probably damaging Het
Syt17 A G 7: 118,033,216 (GRCm39) I264T possibly damaging Het
Tbl3 A T 17: 24,923,018 (GRCm39) V379D probably damaging Het
Tenm3 A T 8: 48,707,512 (GRCm39) L1762Q probably damaging Het
Trerf1 A T 17: 47,630,501 (GRCm39) noncoding transcript Het
Ttc13 T C 8: 125,403,083 (GRCm39) D552G probably damaging Het
Tuba3a G T 6: 125,255,529 (GRCm39) T382K possibly damaging Het
Vmn1r210 A T 13: 23,011,977 (GRCm39) V103E probably damaging Het
Vmn1r80 A G 7: 11,927,307 (GRCm39) H139R possibly damaging Het
Xpo7 A T 14: 70,940,670 (GRCm39) F141Y probably damaging Het
Zfp143 T A 7: 109,673,333 (GRCm39) Y143* probably null Het
Zfp207 T A 11: 80,276,796 (GRCm39) C26S probably damaging Het
Other mutations in Pilra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02331:Pilra APN 5 137,833,917 (GRCm39) nonsense probably null
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 2013-12-09