Mutagenetix > Incidental Mutation

Incidental Mutation 'R2305:Pirb'

244557

Institutional Source

Beutler Lab

Gene Symbol

Pirb

Ensembl Gene

ENSMUSG00000058818

Gene Name

paired Ig-like receptor B

Synonyms

Lilrb3, Gp91

MMRRC Submission

040304-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3715504-3723381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3715990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 755 (H755Y)

Ref Sequence

ENSEMBL: ENSMUSP00000077546 (fasta)

Gene Model

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

AlphaFold

P97484

Predicted Effect

probably benign
Transcript: ENSMUST00000078451
AA Change: H755Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: H755Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	C	A	2: 58,171,711 (GRCm39)	D295Y	probably damaging	Het
Adamts7	A	G	9: 90,062,764 (GRCm39)	D406G	probably benign	Het
Ankhd1	T	C	18: 36,775,979 (GRCm39)	S1443P	possibly damaging	Het
Casp8ap2	A	T	4: 32,646,411 (GRCm39)	K1828I	probably damaging	Het
Cep135	T	C	5: 76,743,236 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Defb21	T	A	2: 152,416,791 (GRCm39)	L89Q	possibly damaging	Het
Dnah5	A	T	15: 28,387,913 (GRCm39)	E3124V	probably benign	Het
Efcab7	A	G	4: 99,719,718 (GRCm39)	T67A	possibly damaging	Het
Exo1	C	T	1: 175,716,327 (GRCm39)	P148L	probably damaging	Het
Hps4	A	G	5: 112,494,527 (GRCm39)	I37V	probably damaging	Het
Krt9	T	A	11: 100,083,942 (GRCm39)	M30L	unknown	Het
Med25	C	A	7: 44,535,314 (GRCm39)	R37L	possibly damaging	Het
Or10ak12	T	G	4: 118,666,058 (GRCm39)	Q318H	probably benign	Het
Or5an10	T	C	19: 12,276,451 (GRCm39)	E15G	probably benign	Het
Phf3	G	A	1: 30,844,556 (GRCm39)	Q1468*	probably null	Het
Phkb	A	G	8: 86,770,431 (GRCm39)	K900R	possibly damaging	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Polr2b	T	A	5: 77,468,284 (GRCm39)		probably benign	Het
Pus1	C	A	5: 110,922,826 (GRCm39)	M232I	probably benign	Het
Serpina3a	C	A	12: 104,082,787 (GRCm39)	Q187K	probably benign	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Syne1	C	T	10: 4,997,573 (GRCm39)	E465K	probably damaging	Het
Tektl1	T	C	10: 78,584,336 (GRCm39)	T360A	probably damaging	Het
Tlk2	T	G	11: 105,132,417 (GRCm39)	I217R	possibly damaging	Het
Tlr4	A	G	4: 66,758,338 (GRCm39)	D377G	probably damaging	Het
Tmtc1	T	C	6: 148,146,195 (GRCm39)	D866G	probably damaging	Het
Tubd1	T	A	11: 86,446,017 (GRCm39)	I219N	probably benign	Het
Ugt3a1	C	A	15: 9,351,203 (GRCm39)	P71T	probably benign	Het
Vmn1r64	A	G	7: 5,887,535 (GRCm39)	S3P	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
R0790: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
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'- AGCTGGGCATAGGTCACATC -3'
(R):5'- GAAGGAAACCCAGGAAGTTCCC -3'

Sequencing Primer
(F):5'- GCATAGGTCACATCCTGGG -3'
(R):5'- GTTCCCATCAGAGAGGCAGTAATC -3'

Posted On

2014-10-30