Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Pilra'

550986

Institutional Source

Beutler Lab

Gene Symbol

Pilra

Ensembl Gene

ENSMUSG00000046245

Gene Name

paired immunoglobin-like type 2 receptor alpha

Synonyms

FDF03

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

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

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137820214-137834540 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137829488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 192 (D192G)

Ref Sequence

ENSEMBL: ENSMUSP00000050313 (fasta)

Gene Model

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

AlphaFold

Q2YFS3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058897
AA Change: D192G

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245
AA Change: D192G

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

possibly damaging
Transcript: ENSMUST00000110980
AA Change: D189G

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: D189G

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

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 26,997,473 (GRCm39)	V893I	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Aoah	T	C	13: 21,207,485 (GRCm39)	F568S	probably damaging	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Brd3	T	A	2: 27,340,406 (GRCm39)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dmp1	A	T	5: 104,359,729 (GRCm39)	D135V	probably damaging	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4c120	A	G	2: 89,000,827 (GRCm39)	I243T	possibly damaging	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tmem231	T	C	8: 112,645,517 (GRCm39)		probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Trpm6	A	T	19: 18,790,911 (GRCm39)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	probably benign	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
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
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'- CAACAACTTTGGCGTAGATTGT -3'
(R):5'- TCCTCCCCGATTCAAGAAGAA -3'

Sequencing Primer
(F):5'- CGTAGATTGTTCGGTGGAAAC -3'
(R):5'- GCTGTCAGAAGCATGTGAACTAACTC -3'

Posted On

2019-05-15