Incidental Mutation 'R5072:Pilra'
ID 388868
Institutional Source Beutler Lab
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 # R5072 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 137820214-137834540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137833674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 131 (F131L)
Ref Sequence ENSEMBL: ENSMUSP00000050313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058897] [ENSMUST00000110980] [ENSMUST00000197586] [ENSMUST00000199028]
AlphaFold Q2YFS3
Predicted Effect probably damaging
Transcript: ENSMUST00000058897
AA Change: F131L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245
AA Change: F131L

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 possibly damaging
Transcript: ENSMUST00000110980
AA Change: F128L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: F128L

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 benign
Transcript: ENSMUST00000197586
SMART Domains Protein: ENSMUSP00000142631
Gene: ENSMUSG00000046245

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
Meta Mutation Damage Score 0.7047 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.9%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,414 (GRCm39) H104Q probably benign Het
4933405L10Rik A G 8: 106,436,201 (GRCm39) T158A possibly damaging Het
A1cf T C 19: 31,895,385 (GRCm39) M156T probably benign Het
Abca15 A G 7: 120,006,198 (GRCm39) Y1620C probably damaging Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Ablim1 A G 19: 57,062,285 (GRCm39) probably null Het
Acox2 A T 14: 8,241,374 (GRCm38) Y579* probably null Het
Adnp A T 2: 168,024,921 (GRCm39) S791R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Alx3 G T 3: 107,512,109 (GRCm39) S249I possibly damaging Het
Apob A G 12: 8,058,714 (GRCm39) T2366A probably benign Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Arid4a T C 12: 71,091,853 (GRCm39) V213A probably benign Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Bpifa5 A T 2: 154,007,892 (GRCm39) E178V probably damaging Het
Car4 G A 11: 84,854,193 (GRCm39) E47K probably benign Het
Catsper1 T C 19: 5,390,074 (GRCm39) probably null Het
Ccdc63 T A 5: 122,259,118 (GRCm39) Q260L probably benign Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Ces5a C T 8: 94,261,296 (GRCm39) V44M probably damaging Het
Cltc A G 11: 86,608,794 (GRCm39) I741T possibly damaging Het
Cnst C A 1: 179,450,451 (GRCm39) D638E possibly damaging Het
Col13a1 A G 10: 61,709,797 (GRCm39) silent Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Ddx20 A G 3: 105,590,191 (GRCm39) probably null Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Epha4 T C 1: 77,421,639 (GRCm39) Y281C probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gprasp2 C T X: 134,743,346 (GRCm39) T235I possibly damaging Het
Gtf2ird1 G T 5: 134,419,787 (GRCm39) probably null Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
H2ac20 C T 3: 96,128,099 (GRCm39) probably benign Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Irgc T C 7: 24,132,196 (GRCm39) D207G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Krtap1-4 C G 11: 99,474,442 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,028,872 (GRCm39) E365G probably damaging Het
Ly75 A G 2: 60,206,307 (GRCm39) Y121H probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Mllt10 C A 2: 18,114,685 (GRCm39) H52N possibly damaging Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo3b C A 2: 69,925,593 (GRCm39) T20K possibly damaging Het
Nipsnap2 A T 5: 129,816,644 (GRCm39) K62N probably damaging Het
Nr1i3 C T 1: 171,044,382 (GRCm39) T169I probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Oprm1 A G 10: 6,782,550 (GRCm39) S398G probably benign Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or51k1 T A 7: 103,661,325 (GRCm39) R195W probably damaging Het
Or6k2 A T 1: 173,986,527 (GRCm39) I63F probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pebp1 G T 5: 117,421,475 (GRCm39) D156E probably benign Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pitrm1 T C 13: 6,603,226 (GRCm39) F91S probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Pygb C T 2: 150,643,498 (GRCm39) T95M probably damaging Het
Rassf9 A G 10: 102,381,766 (GRCm39) K383E probably damaging Het
Rfk T A 19: 17,375,963 (GRCm39) F86I possibly damaging Het
Rims2 T C 15: 39,325,986 (GRCm39) F773L probably benign Het
Sdcbp A G 4: 6,393,019 (GRCm39) I218V probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Spen A T 4: 141,249,613 (GRCm39) S58R unknown Het
St3gal2 T C 8: 111,684,350 (GRCm39) C3R possibly damaging Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Stat5b T C 11: 100,699,361 (GRCm39) probably null Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tmem26 A G 10: 68,611,178 (GRCm39) T216A probably damaging Het
Ttn A G 2: 76,550,822 (GRCm39) probably null Het
Ttn A T 2: 76,602,709 (GRCm39) probably null Het
Ttn C T 2: 76,576,746 (GRCm39) V24716I probably damaging Het
Uba5 T C 9: 103,931,626 (GRCm39) E202G probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn2r111 C A 17: 22,767,022 (GRCm39) C825F probably damaging Het
Vmn2r113 T A 17: 23,177,329 (GRCm39) C704* probably null Het
Vmn2r56 A G 7: 12,427,983 (GRCm39) I761T probably benign Het
Vmn2r98 C T 17: 19,286,306 (GRCm39) T268I probably benign Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Zfp473 T A 7: 44,381,943 (GRCm39) I797F probably damaging Het
Zfp68 A T 5: 138,604,579 (GRCm39) D543E probably benign Het
Other mutations in Pilra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Pilra APN 5 137,833,803 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAAAGTTGGCAGACCTCTGG -3'
(R):5'- GATCCACAGATGAGCATAGCCTG -3'

Sequencing Primer
(F):5'- CCACAGGAGAAAAATCTGTGTG -3'
(R):5'- CATAGCCTGGAGATGGAAGGATTTC -3'
Posted On 2016-06-06