Mutagenetix > Incidental Mutation

Incidental Mutation 'R0680:Pirb'

61746

Institutional Source

Beutler Lab

Gene Symbol

Pirb

Ensembl Gene

ENSMUSG00000058818

Gene Name

paired Ig-like receptor B

Synonyms

Lilrb3, Gp91

MMRRC Submission

038865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0680 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

3715504-3723381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3720360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 338 (N338Y)

Ref Sequence

ENSEMBL: ENSMUSP00000077546 (fasta)

Gene Model

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

AlphaFold

P97484

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078451
AA Change: N338Y

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: N338Y

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: 98.8%
10x: 97.7%
20x: 95.9%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clca4a	A	T	3: 144,675,128 (GRCm39)	F167L	probably damaging	Het
Col6a3	T	C	1: 90,706,703 (GRCm39)	M2137V	unknown	Het
Dennd2a	A	T	6: 39,459,996 (GRCm39)	L703Q	probably damaging	Het
Fsip2	T	A	2: 82,821,703 (GRCm39)	I5812N	possibly damaging	Het
Gen1	T	A	12: 11,291,870 (GRCm39)	S640C	probably benign	Het
Il9	T	C	13: 56,629,693 (GRCm39)	T61A	probably benign	Het
Lrp1	A	G	10: 127,425,530 (GRCm39)	L700P	probably damaging	Het
Lyst	G	A	13: 13,824,926 (GRCm39)	V1514I	probably benign	Het
Med1	A	T	11: 98,070,992 (GRCm39)		probably null	Het
Or14a257	A	T	7: 86,138,545 (GRCm39)	F71L	probably benign	Het
Or4c11c	A	T	2: 88,662,124 (GRCm39)	Y221F	probably benign	Het
Or52n2	A	G	7: 104,542,211 (GRCm39)	I208T	probably benign	Het
Or6c69b	T	A	10: 129,626,687 (GRCm39)	Y257F	probably damaging	Het
Pcdhb18	G	C	18: 37,623,347 (GRCm39)	A226P	probably damaging	Het
Rc3h2	A	C	2: 37,289,847 (GRCm39)	I360R	probably damaging	Het
Rnf139	T	C	15: 58,771,501 (GRCm39)	Y509H	probably damaging	Het
Shisa7	T	A	7: 4,834,722 (GRCm39)	D279V	probably benign	Het
Shoc1	T	C	4: 59,043,967 (GRCm39)	D1449G	probably benign	Het
Slc6a3	T	C	13: 73,686,846 (GRCm39)	L71P	probably damaging	Het
Slc9a5	T	A	8: 106,082,539 (GRCm39)	L268Q	probably null	Het
St7	T	C	6: 17,942,732 (GRCm39)	S563P	probably damaging	Het
Stx1b	A	G	7: 127,406,895 (GRCm39)	V240A	possibly damaging	Het
Sugt1	A	G	14: 79,847,751 (GRCm39)	I200M	possibly damaging	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tut7	G	A	13: 59,948,413 (GRCm39)	T636I	possibly damaging	Het
Ube4a	T	A	9: 44,859,358 (GRCm39)	Q380L	probably damaging	Het
Ugt1a2	A	G	1: 88,128,933 (GRCm39)	Y192C	probably damaging	Het
Ulbp3	T	A	10: 3,075,133 (GRCm39)		noncoding transcript	Het
Unc93b1	G	A	19: 3,997,093 (GRCm39)	V505I	probably benign	Het
Usp29	T	C	7: 6,965,884 (GRCm39)	S576P	possibly damaging	Het
Vcan	A	T	13: 89,827,941 (GRCm39)	H2208Q	probably damaging	Het
Zfp106	T	A	2: 120,357,497 (GRCm39)	S1133C	probably damaging	Het
Zfp148	A	G	16: 33,316,174 (GRCm39)	D282G	possibly damaging	Het
Zswim9	A	C	7: 12,994,248 (GRCm39)	V636G	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
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
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'- TCCCTTCTGTGACACTACAACATGC -3'

Sequencing Primer
(F):5'- CTGTATGGGTTGGGGTTGTG -3'
(R):5'- GGGGACAGTCAGATTCTCAACC -3'

Posted On

2013-07-30