Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Pilra'

59391

Institutional Source

Beutler Lab

Gene Symbol

Pilra

Ensembl Gene

ENSMUSG00000046245

Gene Name

paired immunoglobin-like type 2 receptor alpha

Synonyms

FDF03

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

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

Stock #

R0032 (G1) of strain 731

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137820214-137834540 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137829527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 179 (D179V)

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: D179V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245
AA Change: D179V

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 benign
Transcript: ENSMUST00000110980
AA Change: D176V

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: D176V

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,231,472 (GRCm39)	F9L	probably damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Ccbe1	T	G	18: 66,424,723 (GRCm39)	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,644,469 (GRCm39)	T202K	possibly damaging	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,799,579 (GRCm39)	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,866,452 (GRCm39)	G327D	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Clca3a2	T	A	3: 144,522,494 (GRCm39)	I176F	probably benign	Het
Cop1	T	C	1: 159,152,606 (GRCm39)		probably null	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Des	A	G	1: 75,338,810 (GRCm39)	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Epb41l3	G	T	17: 69,517,379 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Galnt16	T	C	12: 80,639,243 (GRCm39)	V419A	probably damaging	Het
Gm10226	A	G	17: 21,910,963 (GRCm39)	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,431,199 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Impdh2	A	G	9: 108,438,860 (GRCm39)	D71G	probably damaging	Het
Ipo11	A	C	13: 106,970,971 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,450,089 (GRCm39)	D145G	possibly damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Junb	T	C	8: 85,704,415 (GRCm39)	H215R	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,427,972 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,702,487 (GRCm39)	S459G	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Meis3	C	A	7: 15,916,210 (GRCm39)		probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,439,745 (GRCm39)	E341K	probably benign	Het
Nbeal2	G	T	9: 110,466,936 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Or10al2	T	A	17: 37,983,378 (GRCm39)	W155R	probably damaging	Het
Or6c210	T	A	10: 129,496,269 (GRCm39)	V198D	probably benign	Het
Or8c13	A	G	9: 38,091,904 (GRCm39)	C72R	probably damaging	Het
Otog	T	A	7: 45,937,637 (GRCm39)	L1782*	probably null	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Ppp2r1a	G	A	17: 21,165,846 (GRCm39)		probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Setmar	T	A	6: 108,053,377 (GRCm39)	C290*	probably null	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slc4a5	T	A	6: 83,250,139 (GRCm39)	I509N	probably damaging	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Sycn	C	T	7: 28,240,717 (GRCm39)	A128V	possibly damaging	Het
Synm	C	A	7: 67,383,675 (GRCm39)	R1329M	possibly damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tcp10a	T	C	17: 7,604,306 (GRCm39)	M247T	probably benign	Het
Tjp2	A	G	19: 24,086,059 (GRCm39)	L821S	probably damaging	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trim34b	A	G	7: 103,985,784 (GRCm39)	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Trpm5	A	T	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Tuba8	A	T	6: 121,202,863 (GRCm39)	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,084,782 (GRCm39)	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,665,194 (GRCm39)	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,016,858 (GRCm39)	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,049,157 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het
Znhit1	G	C	5: 137,013,901 (GRCm39)	R8G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTCTTGAACCACTTACCTTGCC -3'
(R):5'- GAGTTGTTCCCCAACCCACATCC -3'

Sequencing Primer
(F):5'- GAACCACTTACCTTGCCTTCTTC -3'
(R):5'- tgggaagaggaacaaggagg -3'

Posted On

2013-07-11