Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Pirb'

73057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pirb

Ensembl Gene

ENSMUSG00000058818

Gene Name

paired Ig-like receptor B

Synonyms

Lilrb3, Gp91

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

3711409-3720391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3717406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 323 (P323S)

Ref Sequence

ENSEMBL: ENSMUSP00000077546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078451]

AlphaFold

P97484

Predicted Effect

probably damaging
Transcript: ENSMUST00000078451
AA Change: P323S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: P323S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	34	118	1.8e-3	SMART
IG	129	315	1.2e-4	SMART
IG_like	237	302	6.2e-4	SMART
IG_like	328	415	3.4e-2	SMART
IG_like	435	502	1e-2	SMART
IG	529	618	3.6e-5	SMART
low complexity region	624	637	N/A	INTRINSIC
transmembrane domain	641	663	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155131

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,661,936	L691I	possibly damaging	Het
Ano7	A	G	1: 93,380,478	D77G	probably benign	Het
Apol10b	A	T	15: 77,585,596	V127E	probably damaging	Het
Apol11b	G	A	15: 77,638,019	T26M	probably damaging	Het
Atn1	T	C	6: 124,749,276	E80G	probably damaging	Het
Carmil2	T	C	8: 105,695,516	M1139T	probably benign	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Celf5	G	T	10: 81,467,080		probably benign	Het
Chd6	G	A	2: 160,988,370		probably benign	Het
Col12a1	A	T	9: 79,643,926	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,236,075		probably benign	Het
Dph1	A	G	11: 75,180,949		probably benign	Het
Dvl2	G	T	11: 70,009,584	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,441,740	I709V	possibly damaging	Het
Elp5	C	T	11: 69,968,470		probably benign	Het
Exd1	A	T	2: 119,530,079		probably benign	Het
Fbxl4	C	A	4: 22,427,348	R530S	probably benign	Het
Fmo4	A	T	1: 162,799,124	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,421,554	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,504,919	Q436K	probably benign	Het
Gm5114	A	T	7: 39,407,817	W793R	probably damaging	Het
Gm9376	T	G	14: 118,267,647	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,192,764	D69N	probably damaging	Het
Hfm1	A	C	5: 106,917,606	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,093,999	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,577,987	R67H	probably benign	Het
Ipcef1	A	T	10: 6,900,642	F316L	probably damaging	Het
Kdsr	A	G	1: 106,755,457	V62A	possibly damaging	Het
Kif23	A	T	9: 61,932,129	C279S	possibly damaging	Het
Klf5	C	T	14: 99,301,721	T110I	probably benign	Het
Klhl25	T	A	7: 75,865,872	H175Q	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Nfatc4	T	C	14: 55,832,505	V710A	probably benign	Het
Olfr1404	A	T	1: 173,215,873	Y74F	probably damaging	Het
Olfr68	C	T	7: 103,778,241	V35I	probably benign	Het
Optn	G	A	2: 5,033,156	T409I	possibly damaging	Het
Pabpc2	T	A	18: 39,774,029	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,683,647	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,668,395	G66R	probably damaging	Het
Pih1d1	T	C	7: 45,159,964	L285P	probably damaging	Het
Pkd1l1	A	G	11: 8,933,685	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,281,726	T108M	probably damaging	Het
Plin3	T	C	17: 56,279,814	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,747,539		probably benign	Het
Prrc2c	T	C	1: 162,682,492	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,446,618	I253T	probably damaging	Het
Ptprb	A	G	10: 116,362,648	I1684V	probably benign	Het
Ptprk	G	A	10: 28,475,178	V556I	probably benign	Het
Rffl	A	T	11: 82,818,457	C47S	probably damaging	Het
Rnf17	C	T	14: 56,463,064	Q569*	probably null	Het
Shprh	A	G	10: 11,183,868	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,795,862	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,616,714		probably null	Het
Slc2a13	T	A	15: 91,350,132		probably null	Het
Slc30a8	A	T	15: 52,306,559	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,751,436	S280T	possibly damaging	Het
Smad2	G	A	18: 76,302,430	A365T	probably benign	Het
Tcp10b	C	T	17: 13,080,160	P367S	probably damaging	Het
Tdp1	A	G	12: 99,891,670	N163D	probably benign	Het
Thbs1	A	G	2: 118,118,327	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,746,762	S257N	probably damaging	Het
Treml1	T	C	17: 48,365,599		probably benign	Het
Ugt2b36	A	G	5: 87,080,885	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,453,026	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,472,009	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,306,418	M129K	probably damaging	Het
Zdhhc15	T	C	X: 104,544,913		probably null	Het

Other mutations in Pirb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:Pirb	APN	7	3717176	nonsense	probably null
IGL01755:Pirb	APN	7	3717170	missense	probably benign	0.16
IGL02580:Pirb	APN	7	3714206	splice site	probably null
IGL02941:Pirb	APN	7	3717378	missense	probably damaging	1.00
R0394:Pirb	UTSW	7	3719248	missense	probably benign	0.08
R0680:Pirb	UTSW	7	3717361	missense	possibly damaging	0.94
R0787:Pirb	UTSW	7	3717638	missense	probably benign
R0790:Pirb	UTSW	7	3717638	missense	probably benign
R0832:Pirb	UTSW	7	3717638	missense	probably benign
R1124:Pirb	UTSW	7	3719732	missense	probably benign	0.02
R1178:Pirb	UTSW	7	3717638	missense	probably benign
R1180:Pirb	UTSW	7	3717638	missense	probably benign
R1181:Pirb	UTSW	7	3717638	missense	probably benign
R1281:Pirb	UTSW	7	3717190	missense	probably damaging	1.00
R1343:Pirb	UTSW	7	3717638	missense	probably benign
R1579:Pirb	UTSW	7	3717638	missense	probably benign
R1699:Pirb	UTSW	7	3717638	missense	probably benign
R1768:Pirb	UTSW	7	3717190	missense	probably damaging	1.00
R1909:Pirb	UTSW	7	3714588	missense	probably benign	0.33
R1965:Pirb	UTSW	7	3717638	missense	probably benign
R1966:Pirb	UTSW	7	3717638	missense	probably benign
R2004:Pirb	UTSW	7	3717638	missense	probably benign
R2305:Pirb	UTSW	7	3712991	missense	probably benign	0.00
R2931:Pirb	UTSW	7	3717206	missense	probably benign	0.08
R3858:Pirb	UTSW	7	3717663	missense	possibly damaging	0.54
R3928:Pirb	UTSW	7	3717638	missense	probably benign
R3938:Pirb	UTSW	7	3717638	missense	probably benign
R4119:Pirb	UTSW	7	3717575	missense	probably damaging	1.00
R4174:Pirb	UTSW	7	3716032	critical splice donor site	probably null
R4248:Pirb	UTSW	7	3719298	missense	probably damaging	1.00
R4827:Pirb	UTSW	7	3717603	missense	probably benign
R4828:Pirb	UTSW	7	3717603	missense	probably benign
R4829:Pirb	UTSW	7	3717603	missense	probably benign
R4830:Pirb	UTSW	7	3717603	missense	probably benign
R4870:Pirb	UTSW	7	3712662	missense	probably benign	0.00
R4909:Pirb	UTSW	7	3719362	nonsense	probably null
R5146:Pirb	UTSW	7	3712621	utr 3 prime	probably benign
R5244:Pirb	UTSW	7	3716063	missense	probably benign	0.32
R5323:Pirb	UTSW	7	3716599	missense	possibly damaging	0.85
R5921:Pirb	UTSW	7	3716694	nonsense	probably null
R6316:Pirb	UTSW	7	3717823	missense	probably damaging	1.00
R6502:Pirb	UTSW	7	3717393	missense	probably benign	0.00
R6811:Pirb	UTSW	7	3719642	missense	possibly damaging	0.91
R7216:Pirb	UTSW	7	3716274	missense	probably benign	0.00
R7275:Pirb	UTSW	7	3716178	missense	probably benign	0.00
R7327:Pirb	UTSW	7	3717188	nonsense	probably null
R7582:Pirb	UTSW	7	3713818	critical splice donor site	probably null
R7717:Pirb	UTSW	7	3717783	missense	not run
R7717:Pirb	UTSW	7	3717801	missense	not run
R7807:Pirb	UTSW	7	3719865	missense	possibly damaging	0.55
R7844:Pirb	UTSW	7	3719411	nonsense	probably null
R7947:Pirb	UTSW	7	3719858	missense	probably damaging	0.96
R8206:Pirb	UTSW	7	3712906	critical splice donor site	probably null
R8397:Pirb	UTSW	7	3716046	missense	probably damaging	1.00
R8774:Pirb	UTSW	7	3717729	missense	probably damaging	1.00
R8774-TAIL:Pirb	UTSW	7	3717729	missense	probably damaging	1.00
R9033:Pirb	UTSW	7	3717585	missense	probably benign
R9275:Pirb	UTSW	7	3716860	missense	probably benign
R9452:Pirb	UTSW	7	3717618	missense	possibly damaging	0.68
R9595:Pirb	UTSW	7	3719407	missense	possibly damaging	0.78
R9605:Pirb	UTSW	7	3717618	missense	possibly damaging	0.68
R9607:Pirb	UTSW	7	3717618	missense	possibly damaging	0.68
X0025:Pirb	UTSW	7	3717268	missense	probably benign	0.00

Posted On

2013-10-07