Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Pilra'

381238

Institutional Source

Beutler Lab

Gene Symbol

Pilra

Ensembl Gene

ENSMUSG00000046245

Gene Name

paired immunoglobin-like type 2 receptor alpha

Synonyms

FDF03

MMRRC Submission

041915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137820214-137834540 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 137833588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058897] [ENSMUST00000110980] [ENSMUST00000197586] [ENSMUST00000199028]

AlphaFold

Q2YFS3

Predicted Effect

probably null
Transcript: ENSMUST00000058897

SMART Domains

Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	probably damaging	Het

Other mutations in Pilra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTGCTATGGTTTGCAGATG -3'
(R):5'- AGCCTGGAGATGGAAGGATTTC -3'

Sequencing Primer
(F):5'- ATGGTTTGCAGATGATTATGGAGAAG -3'
(R):5'- CCTTTCATACATGAGCACTTCAAGGG -3'

Posted On

2016-04-21