Mutagenetix > Incidental Mutation

Incidental Mutation 'R6316:Pirb'

509984

Institutional Source

Beutler Lab

Gene Symbol

Pirb

Ensembl Gene

ENSMUSG00000058818

Gene Name

paired Ig-like receptor B

Synonyms

Lilrb3, Gp91

MMRRC Submission

044416-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6316 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3715504-3723381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3720822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 225 (K225N)

Ref Sequence

ENSEMBL: ENSMUSP00000077546 (fasta)

Gene Model

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

AlphaFold

P97484

Predicted Effect

probably damaging
Transcript: ENSMUST00000078451
AA Change: K225N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077546
Gene: ENSMUSG00000058818
AA Change: K225N

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.0%

Validation Efficiency

97% (38/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,118 (GRCm39)	T775A	probably benign	Het
Adam6a	A	T	12: 113,509,196 (GRCm39)	N523I	probably benign	Het
Adgrv1	T	C	13: 81,647,187 (GRCm39)	T3118A	possibly damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Asxl3	A	G	18: 22,655,839 (GRCm39)	Y1283C	probably damaging	Het
Btbd2	T	A	10: 80,480,612 (GRCm39)	I319F	probably damaging	Het
Eno4	G	A	19: 58,948,723 (GRCm39)		probably null	Het
Glis2	T	A	16: 4,431,700 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,277 (GRCm39)	C395S	probably benign	Het
H1f8	T	C	6: 115,925,876 (GRCm39)		probably null	Het
Kansl1l	T	A	1: 66,774,744 (GRCm39)	Y694F	probably benign	Het
Kcnj1	A	T	9: 32,308,632 (GRCm39)	E332V	probably damaging	Het
Klhdc7a	T	C	4: 139,694,113 (GRCm39)	E278G	probably benign	Het
Krt33a	T	C	11: 99,905,027 (GRCm39)	N160D	probably damaging	Het
Ksr2	A	G	5: 117,823,567 (GRCm39)	N448S	probably damaging	Het
Lpar6	A	G	14: 73,476,774 (GRCm39)	Y245C	probably damaging	Het
Magel2	T	C	7: 62,028,467 (GRCm39)	I457T	possibly damaging	Het
Manf	A	G	9: 106,766,385 (GRCm39)	L132P	probably damaging	Het
Moxd2	T	C	6: 40,860,481 (GRCm39)	D321G	probably damaging	Het
Mtmr12	T	A	15: 12,236,199 (GRCm39)	C153S	probably null	Het
Muc16	T	C	9: 18,553,115 (GRCm39)	T4393A	probably benign	Het
Notch3	T	C	17: 32,356,787 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,768 (GRCm39)	Y276C	probably damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Rilpl2	A	G	5: 124,615,943 (GRCm39)	V69A	probably damaging	Het
Smdt1	T	C	15: 82,232,210 (GRCm39)	V99A	probably damaging	Het
Smpd1	T	C	7: 105,204,709 (GRCm39)	V196A	probably benign	Het
Supt20	TCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCAGCA	3: 54,635,069 (GRCm39)		probably benign	Het
Tcte1	A	G	17: 45,845,786 (GRCm39)	H130R	probably benign	Het
Tead1	C	A	7: 112,491,046 (GRCm39)	Q296K	probably damaging	Het
Thoc2l	G	C	5: 104,667,595 (GRCm39)	G706R	probably damaging	Het
Tmem163	C	T	1: 127,479,102 (GRCm39)	S139N	probably benign	Het
Tor1aip2	G	T	1: 155,937,840 (GRCm39)	D192Y	probably damaging	Het
Trgv2	G	A	13: 19,520,912 (GRCm39)	Q61*	probably null	Het
Trib1	T	C	15: 59,521,264 (GRCm39)	S85P	probably benign	Het
Trrap	T	A	5: 144,750,336 (GRCm39)	N1581K	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Xrn2	A	G	2: 146,883,930 (GRCm39)	Y563C	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
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
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'- GCTGAGCCGTAACAATAACAG -3'
(R):5'- GGGAGGACTGTGTCATATCAGG -3'

Sequencing Primer
(F):5'- TAACAGCGATATTGCCCTGCATG -3'
(R):5'- CTGTGTCATATCAGGGAGGAGG -3'

Posted On

2018-04-02