Mutagenetix > Incidental Mutation

Incidental Mutation 'R0790:Pirb'

76430

Institutional Source

Beutler Lab

Gene Symbol

Pirb

Ensembl Gene

ENSMUSG00000058818

Gene Name

paired Ig-like receptor B

Synonyms

Lilrb3, Gp91

MMRRC Submission

038970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0790 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

3715504-3723381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3720637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 287 (L287Q)

Ref Sequence

ENSEMBL: ENSMUSP00000077546 (fasta)

Gene Model

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

AlphaFold

P97484

Predicted Effect

probably benign
Transcript: ENSMUST00000078451
AA Change: L287Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: L287Q

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

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.0%

Validation Efficiency

100% (41/41)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	A	G	12: 8,060,245 (GRCm39)	E2876G	probably damaging	Het
Arhgef28	A	G	13: 98,117,914 (GRCm39)	S585P	possibly damaging	Het
Atp11b	T	A	3: 35,887,072 (GRCm39)	N685K	probably damaging	Het
Camsap2	C	T	1: 136,201,475 (GRCm39)		probably benign	Het
Ccdc150	T	A	1: 54,316,935 (GRCm39)		probably benign	Het
Cdc23	A	G	18: 34,784,666 (GRCm39)	I32T	possibly damaging	Het
Cdca2	C	T	14: 67,917,740 (GRCm39)	D553N	probably benign	Het
Chd8	T	C	14: 52,441,482 (GRCm39)	D870G	probably benign	Het
Chit1	T	G	1: 134,066,490 (GRCm39)	V2G	probably benign	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Cpsf4l	A	G	11: 113,597,234 (GRCm39)		probably benign	Het
Etaa1	G	T	11: 17,896,051 (GRCm39)	Q689K	probably benign	Het
Fam83h	C	T	15: 75,875,241 (GRCm39)	V699I	probably benign	Het
Fry	A	G	5: 150,389,902 (GRCm39)	D2545G	probably benign	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif5a	T	C	10: 127,081,878 (GRCm39)		probably benign	Het
Lifr	A	G	15: 7,215,196 (GRCm39)	T768A	probably benign	Het
Mrap2	T	C	9: 87,064,835 (GRCm39)	L192P	possibly damaging	Het
Myo18a	G	A	11: 77,731,535 (GRCm39)	R840Q	possibly damaging	Het
Myrfl	T	C	10: 116,653,693 (GRCm39)	D458G	probably damaging	Het
Or12j4	T	C	7: 140,046,962 (GRCm39)	S283P	possibly damaging	Het
Or51s1	A	G	7: 102,558,843 (GRCm39)	Y68H	probably benign	Het
Pcdh15	A	G	10: 74,466,885 (GRCm39)	E1034G	probably benign	Het
Plcb2	G	A	2: 118,542,964 (GRCm39)		probably benign	Het
Psmd1	T	C	1: 86,005,172 (GRCm39)	V202A	possibly damaging	Het
Raet1d	T	C	10: 22,246,795 (GRCm39)	I41T	probably damaging	Het
Retnlb	T	A	16: 48,637,589 (GRCm39)	L5Q	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,292 (GRCm39)	Y145H	probably damaging	Het
Smad7	C	T	18: 75,526,933 (GRCm39)	H260Y	probably benign	Het
Stk10	T	C	11: 32,548,653 (GRCm39)	V407A	probably benign	Het
Synpo	A	G	18: 60,736,575 (GRCm39)	V218A	probably damaging	Het
Tll2	T	A	19: 41,092,289 (GRCm39)	Y499F	probably damaging	Het
Vrk1	C	T	12: 106,036,883 (GRCm39)	P390S	probably benign	Het
Zfp748	A	C	13: 67,693,481 (GRCm39)	L64W	probably benign	Het

Other mutations in Pirb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pirb	APN	7	3,720,405 (GRCm39)	missense	probably damaging	0.99
IGL01744:Pirb	APN	7	3,720,175 (GRCm39)	nonsense	probably null
IGL01755:Pirb	APN	7	3,720,169 (GRCm39)	missense	probably benign	0.16
IGL02580:Pirb	APN	7	3,717,205 (GRCm39)	splice site	probably null
IGL02941:Pirb	APN	7	3,720,377 (GRCm39)	missense	probably damaging	1.00
R0394:Pirb	UTSW	7	3,722,247 (GRCm39)	missense	probably benign	0.08
R0680:Pirb	UTSW	7	3,720,360 (GRCm39)	missense	possibly damaging	0.94
R0787:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R0832:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1124:Pirb	UTSW	7	3,722,731 (GRCm39)	missense	probably benign	0.02
R1178:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1180:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1181:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1281:Pirb	UTSW	7	3,720,189 (GRCm39)	missense	probably damaging	1.00
R1343:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1579:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1699:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1768:Pirb	UTSW	7	3,720,189 (GRCm39)	missense	probably damaging	1.00
R1909:Pirb	UTSW	7	3,717,587 (GRCm39)	missense	probably benign	0.33
R1965:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R1966:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R2004:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R2305:Pirb	UTSW	7	3,715,990 (GRCm39)	missense	probably benign	0.00
R2931:Pirb	UTSW	7	3,720,205 (GRCm39)	missense	probably benign	0.08
R3858:Pirb	UTSW	7	3,720,662 (GRCm39)	missense	possibly damaging	0.54
R3928:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R3938:Pirb	UTSW	7	3,720,637 (GRCm39)	missense	probably benign
R4119:Pirb	UTSW	7	3,720,574 (GRCm39)	missense	probably damaging	1.00
R4174:Pirb	UTSW	7	3,719,031 (GRCm39)	critical splice donor site	probably null
R4248:Pirb	UTSW	7	3,722,297 (GRCm39)	missense	probably damaging	1.00
R4827:Pirb	UTSW	7	3,720,602 (GRCm39)	missense	probably benign
R4828:Pirb	UTSW	7	3,720,602 (GRCm39)	missense	probably benign
R4829:Pirb	UTSW	7	3,720,602 (GRCm39)	missense	probably benign
R4830:Pirb	UTSW	7	3,720,602 (GRCm39)	missense	probably benign
R4870:Pirb	UTSW	7	3,715,661 (GRCm39)	missense	probably benign	0.00
R4909:Pirb	UTSW	7	3,722,361 (GRCm39)	nonsense	probably null
R5146:Pirb	UTSW	7	3,715,620 (GRCm39)	utr 3 prime	probably benign
R5244:Pirb	UTSW	7	3,719,062 (GRCm39)	missense	probably benign	0.32
R5323:Pirb	UTSW	7	3,719,598 (GRCm39)	missense	possibly damaging	0.85
R5921:Pirb	UTSW	7	3,719,693 (GRCm39)	nonsense	probably null
R6316:Pirb	UTSW	7	3,720,822 (GRCm39)	missense	probably damaging	1.00
R6502:Pirb	UTSW	7	3,720,392 (GRCm39)	missense	probably benign	0.00
R6811:Pirb	UTSW	7	3,722,641 (GRCm39)	missense	possibly damaging	0.91
R7216:Pirb	UTSW	7	3,719,273 (GRCm39)	missense	probably benign	0.00
R7275:Pirb	UTSW	7	3,719,177 (GRCm39)	missense	probably benign	0.00
R7327:Pirb	UTSW	7	3,720,187 (GRCm39)	nonsense	probably null
R7582:Pirb	UTSW	7	3,716,817 (GRCm39)	critical splice donor site	probably null
R7717:Pirb	UTSW	7	3,720,800 (GRCm39)	missense	not run
R7717:Pirb	UTSW	7	3,720,782 (GRCm39)	missense	not run
R7807:Pirb	UTSW	7	3,722,864 (GRCm39)	missense	possibly damaging	0.55
R7844:Pirb	UTSW	7	3,722,410 (GRCm39)	nonsense	probably null
R7947:Pirb	UTSW	7	3,722,857 (GRCm39)	missense	probably damaging	0.96
R8206:Pirb	UTSW	7	3,715,905 (GRCm39)	critical splice donor site	probably null
R8397:Pirb	UTSW	7	3,719,045 (GRCm39)	missense	probably damaging	1.00
R8774:Pirb	UTSW	7	3,720,728 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Pirb	UTSW	7	3,720,728 (GRCm39)	missense	probably damaging	1.00
R9033:Pirb	UTSW	7	3,720,584 (GRCm39)	missense	probably benign
R9275:Pirb	UTSW	7	3,719,859 (GRCm39)	missense	probably benign
R9452:Pirb	UTSW	7	3,720,617 (GRCm39)	missense	possibly damaging	0.68
R9595:Pirb	UTSW	7	3,722,406 (GRCm39)	missense	possibly damaging	0.78
R9605:Pirb	UTSW	7	3,720,617 (GRCm39)	missense	possibly damaging	0.68
R9607:Pirb	UTSW	7	3,720,617 (GRCm39)	missense	possibly damaging	0.68
X0025:Pirb	UTSW	7	3,720,267 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACCGTAACATCTGAATGCCCCTG -3'
(R):5'- TCTGGGCCACTTTCCAACACAC -3'

Sequencing Primer
(F):5'- TCCTATAATAAACAGGGCTCGG -3'
(R):5'- ACCATCAAGGCTGAACCAGG -3'

Posted On

2013-10-16