Mutagenetix > Incidental Mutation

Incidental Mutation 'R5074:Pilra'

386816

Institutional Source

Beutler Lab

Gene Symbol

Pilra

Ensembl Gene

ENSMUSG00000046245

Gene Name

paired immunoglobin-like type 2 receptor alpha

Synonyms

FDF03

MMRRC Submission

042663-MU

Accession Numbers

Essential gene?

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

Stock #

R5074 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

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: F128L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: F128L

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

0.7047

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,482 (GRCm39)	H143Q	probably benign	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	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
Cdc25a	T	A	9: 109,713,208 (GRCm39)	C227S	possibly damaging	Het
Ces1a	A	G	8: 93,759,303 (GRCm39)	S278P	possibly damaging	Het
Cfap65	A	T	1: 74,962,137 (GRCm39)	S695T	probably benign	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Ctps1	A	T	4: 120,411,170 (GRCm39)	L282Q	probably damaging	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
Dennd3	G	A	15: 73,419,144 (GRCm39)	R645H	probably damaging	Het
Dnaaf5	G	T	5: 139,159,962 (GRCm39)	R620L	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Dnah9	A	G	11: 65,740,866 (GRCm39)	F4107L	probably damaging	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
Dst	A	C	1: 34,334,344 (GRCm39)	K4857N	probably damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Enpep	T	A	3: 129,097,404 (GRCm39)	Q409L	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
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,340 (GRCm39)	T328A	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,527 (GRCm39)	Q475*	probably null	Het
Itga6	T	A	2: 71,656,779 (GRCm39)	D344E	probably benign	Het
Kcnmb4	T	C	10: 116,309,102 (GRCm39)	T109A	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
Lrrc66	G	A	5: 73,765,354 (GRCm39)	P563L	probably damaging	Het
Mamdc2	T	C	19: 23,356,160 (GRCm39)	D96G	probably benign	Het
Map3k12	A	T	15: 102,410,267 (GRCm39)		probably null	Het
Mc3r	A	T	2: 172,091,533 (GRCm39)	I252F	possibly damaging	Het
Metrn	C	T	17: 26,015,613 (GRCm39)	G34D	probably damaging	Het
Mipep	A	G	14: 61,046,462 (GRCm39)	E328G	probably benign	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Myh8	A	T	11: 67,196,742 (GRCm39)	T1792S	possibly damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,081,438 (GRCm39)	S1008T	probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Nup210	T	A	6: 91,032,309 (GRCm39)	I20F	probably benign	Het
Odad1	T	A	7: 45,578,514 (GRCm39)	M29K	probably benign	Het
Or10ak12	A	C	4: 118,666,057 (GRCm39)	W319G	possibly damaging	Het
Or10p21	T	C	10: 128,847,213 (GRCm39)	Y20H	possibly damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52e8b	A	T	7: 104,673,260 (GRCm39)	M309K	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or7h8	A	T	9: 20,123,878 (GRCm39)	I78F	possibly damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Papolg	G	A	11: 23,817,331 (GRCm39)	T153I	possibly damaging	Het
Pappa	A	G	4: 65,123,365 (GRCm39)	H900R	probably benign	Het
Pcdh17	T	C	14: 84,770,782 (GRCm39)	S1087P	probably benign	Het
Phf11a	T	G	14: 59,521,849 (GRCm39)	L107F	possibly damaging	Het
Phlpp2	A	T	8: 110,652,461 (GRCm39)	I602F	probably damaging	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pomt2	A	C	12: 87,180,234 (GRCm39)	C256G	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prkaa1	G	T	15: 5,206,392 (GRCm39)	R416L	possibly damaging	Het
Prkdc	C	A	16: 15,589,912 (GRCm39)	R2592S	probably damaging	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prodh	A	T	16: 17,895,653 (GRCm39)		probably null	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
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Riox2	T	C	16: 59,312,236 (GRCm39)	S458P	possibly damaging	Het
Rnase4	T	C	14: 51,342,702 (GRCm39)	V142A	possibly damaging	Het
Rnf138	A	G	18: 21,159,204 (GRCm39)	N244S	probably benign	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Sfxn4	C	T	19: 60,839,450 (GRCm39)	V203M	probably damaging	Het
Skor2	G	T	18: 76,946,649 (GRCm39)	E124*	probably null	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
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spag17	T	A	3: 99,987,434 (GRCm39)	Y1575N	possibly damaging	Het
St8sia4	G	A	1: 95,594,910 (GRCm39)	A26V	probably benign	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tgm1	A	G	14: 55,947,392 (GRCm39)	V323A	probably damaging	Het
Tmco4	A	G	4: 138,785,433 (GRCm39)	H501R	probably damaging	Het
Tob1	A	T	11: 94,104,567 (GRCm39)	R34S	possibly damaging	Het
Trhr2	C	T	8: 123,084,110 (GRCm39)	V297I	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Trpm3	T	C	19: 22,862,713 (GRCm39)	V485A	possibly damaging	Het
Trrap	T	C	5: 144,787,989 (GRCm39)	I3518T	probably damaging	Het
Ttc27	T	C	17: 75,054,750 (GRCm39)	L352P	probably damaging	Het
Ush1g	A	G	11: 115,209,123 (GRCm39)	L357P	possibly damaging	Het
Usp24	A	G	4: 106,277,644 (GRCm39)	H2258R	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Vdr	A	G	15: 97,755,459 (GRCm39)	S355P	probably benign	Het
Vldlr	T	C	19: 27,215,677 (GRCm39)	S184P	probably damaging	Het
Xpo4	C	A	14: 57,822,098 (GRCm39)	A1073S	probably benign	Het
Zfand2b	A	G	1: 75,147,634 (GRCm39)	D224G	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	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
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
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'- GACAAAGTTGGCAGACCTCTGG -3'
(R):5'- TCCACAGATGAGCATAGCCTG -3'

Sequencing Primer
(F):5'- CCACAGGAGAAAAATCTGTGTG -3'
(R):5'- CATAGCCTGGAGATGGAAGGATTTC -3'

Posted On

2016-06-06