Mutagenetix > Incidental Mutation

Incidental Mutation 'R5337:Pilra'

423562

Institutional Source

Beutler Lab

Gene Symbol

Pilra

Ensembl Gene

ENSMUSG00000046245

Gene Name

paired immunoglobin-like type 2 receptor alpha

Synonyms

FDF03

MMRRC Submission

042917-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5337 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

137820214-137834540 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 137834032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142391 (fasta)

Gene Model

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

AlphaFold

Q2YFS3

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000110980
AA Change: M8I

SMART Domains

Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: M8I

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	T	A	11: 77,409,665 (GRCm39)		probably null	Het
Akap8l	A	G	17: 32,555,368 (GRCm39)	M237T	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Api5	G	T	2: 94,256,033 (GRCm39)	A218E	possibly damaging	Het
Bltp2	T	A	11: 78,156,034 (GRCm39)	I182N	possibly damaging	Het
Cfap68	C	A	9: 50,677,049 (GRCm39)	C14F	probably benign	Het
Cftr	A	G	6: 18,319,058 (GRCm39)	D1336G	probably damaging	Het
Chd1l	G	A	3: 97,469,932 (GRCm39)	R865W	probably damaging	Het
Cimip2b	C	T	4: 43,427,687 (GRCm39)		probably null	Het
Cmya5	T	C	13: 93,219,781 (GRCm39)	K3223E	probably benign	Het
Cspg4b	T	A	13: 113,455,299 (GRCm39)	H448Q	probably damaging	Het
Cuzd1	A	G	7: 130,917,803 (GRCm39)	Y266H	probably damaging	Het
Dnajc5b	A	T	3: 19,628,946 (GRCm39)	Y80F	probably damaging	Het
Dock6	A	G	9: 21,740,844 (GRCm39)	S915P	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fat4	A	G	3: 39,064,527 (GRCm39)	T4828A	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja3	T	G	14: 57,273,289 (GRCm39)	D361A	probably benign	Het
Gpr155	T	C	2: 73,178,592 (GRCm39)	E704G	probably benign	Het
Greb1l	A	G	18: 10,509,143 (GRCm39)	E485G	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
H6pd	A	G	4: 150,066,241 (GRCm39)	V715A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnip1	T	G	11: 33,592,389 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,098,881 (GRCm39)	S1390P	probably damaging	Het
Lrrc61	G	A	6: 48,545,308 (GRCm39)	V44M	probably damaging	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mgat5	T	C	1: 127,387,658 (GRCm39)	F538S	possibly damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndst1	A	T	18: 60,823,079 (GRCm39)	L829Q	probably damaging	Het
Neto1	A	T	18: 86,416,434 (GRCm39)	H47L	probably benign	Het
Or10ak11	T	C	4: 118,686,863 (GRCm39)	Y258C	probably benign	Het
Or10p22	A	G	10: 128,826,548 (GRCm39)	T256A	probably benign	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or5p61	A	T	7: 107,758,480 (GRCm39)	V200D	probably benign	Het
Or6c214	A	T	10: 129,590,403 (GRCm39)	C305*	probably null	Het
Pds5b	T	C	5: 150,717,062 (GRCm39)	F1120L	probably benign	Het
Phkb	A	G	8: 86,604,874 (GRCm39)	Y93C	probably damaging	Het
Pmvk	T	C	3: 89,375,878 (GRCm39)	V146A	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Psg23	A	T	7: 18,345,997 (GRCm39)	W233R	probably benign	Het
Rgl2	A	T	17: 34,153,958 (GRCm39)	I455F	probably damaging	Het
Rhpn1	A	G	15: 75,580,054 (GRCm39)	Q39R	probably benign	Het
Rims4	T	G	2: 163,707,763 (GRCm39)	M100L	probably benign	Het
Sacs	T	A	14: 61,430,963 (GRCm39)		probably benign	Het
Slfn4	T	C	11: 83,080,055 (GRCm39)	F189L	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tmem127	T	C	2: 127,098,065 (GRCm39)	Y129H	probably damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Trpc3	A	T	3: 36,692,519 (GRCm39)		probably benign	Het
Tsga10ip	A	T	19: 5,444,363 (GRCm39)	S23T	probably benign	Het
Tut7	G	A	13: 59,939,666 (GRCm39)	T695I	probably damaging	Het
Uspl1	T	C	5: 149,151,556 (GRCm39)	S720P	probably damaging	Het
Zc3h18	A	G	8: 123,113,641 (GRCm39)	D211G	probably damaging	Het
Zswim4	G	A	8: 84,961,708 (GRCm39)	P55L	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
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
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'- AAATCCTTCCATCTCCAGGC -3'
(R):5'- GTACAGGTGTCTGCTAGAGGAG -3'

Sequencing Primer
(F):5'- TGTGGATCCTTGGCCAAC -3'
(R):5'- CTAGAGGAGCCAGCCAGGAC -3'

Posted On

2016-08-04