Mutagenetix > Incidental Mutation

Incidental Mutation 'R4248:Pirb'

320494

Institutional Source

Beutler Lab

Gene Symbol

Pirb

Ensembl Gene

ENSMUSG00000058818

Gene Name

paired Ig-like receptor B

Synonyms

Lilrb3, Gp91

MMRRC Submission

041064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3715504-3723381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3722297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 182 (F182S)

Ref Sequence

ENSEMBL: ENSMUSP00000077546 (fasta)

Gene Model

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

AlphaFold

P97484

Predicted Effect

probably damaging
Transcript: ENSMUST00000078451
AA Change: F182S

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

SMART Domains

Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: F182S

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

0.7476

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,606,013 (GRCm39)	N36S	possibly damaging	Het
Alox12b	G	A	11: 69,054,431 (GRCm39)	V250I	probably benign	Het
Armt1	T	C	10: 4,389,687 (GRCm39)	F115L	probably benign	Het
Cdh9	T	C	15: 16,850,474 (GRCm39)	F536L	probably benign	Het
Fbxo25	T	C	8: 13,989,617 (GRCm39)	S355P	probably damaging	Het
Fhod3	A	G	18: 25,123,123 (GRCm39)	K271R	probably null	Het
Gapt	C	A	13: 110,490,289 (GRCm39)	V125F	probably damaging	Het
Gucd1	A	T	10: 75,345,662 (GRCm39)	V131E	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hivep2	A	G	10: 14,007,299 (GRCm39)	E1299G	probably damaging	Het
Hnf4g	A	G	3: 3,717,909 (GRCm39)	D342G	possibly damaging	Het
Kmt2b	C	T	7: 30,273,489 (GRCm39)	R2349H	probably benign	Het
Lama5	C	T	2: 179,822,220 (GRCm39)	R2896Q	possibly damaging	Het
Moxd2	A	C	6: 40,855,933 (GRCm39)	I552S	probably damaging	Het
Nkx1-2	TGGTGAGAGGGGGCCGCCTTGGCCCCG	TG	7: 132,201,209 (GRCm39)		probably null	Het
Onecut3	A	G	10: 80,349,963 (GRCm39)	T486A	possibly damaging	Het
Or8g36	A	G	9: 39,422,899 (GRCm39)	V39A	probably benign	Het
Pik3cb	T	C	9: 98,983,229 (GRCm39)		probably null	Het
Rev1	C	T	1: 38,146,729 (GRCm39)	R34H	possibly damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Tep1	T	C	14: 51,100,351 (GRCm39)	H389R	possibly damaging	Het
Tnfrsf1b	G	A	4: 144,942,535 (GRCm39)	A416V	probably benign	Het
Ust	A	T	10: 8,393,982 (GRCm39)	L61Q	possibly damaging	Het
Vmn2r101	A	T	17: 19,809,376 (GRCm39)	K168N	probably damaging	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
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
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'- AAGTTCAAAAGAGCCCTGGATC -3'
(R):5'- TGGACACCCAGCCTTTTAGC -3'

Sequencing Primer
(F):5'- CATCAAGTGGTCTCTGAAACCTG -3'
(R):5'- GCCTTTTAGCCCAAGCCAG -3'

Posted On

2015-06-12