Mutagenetix > Incidental Mutation

Incidental Mutation 'R1126:Pilrb2'

96150

Institutional Source

Beutler Lab

Gene Symbol

Pilrb2

Ensembl Gene

ENSMUSG00000066682

Gene Name

paired immunoglobin-like type 2 receptor beta 2

Synonyms

EG545812

MMRRC Submission

039199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137864089-137870077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137869222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 126 (D126G)

Ref Sequence

ENSEMBL: ENSMUSP00000143064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164886] [ENSMUST00000196162] [ENSMUST00000199773]

AlphaFold

Q2YFS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000164886
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131233
Gene: ENSMUSG00000066682
AA Change: D126G

Domain	Start	End	E-Value	Type
IG	45	156	2.38e0	SMART
Blast:IG_like	192	221	3e-6	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000196162
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143064
Gene: ENSMUSG00000066682
AA Change: D126G

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	45	156	9.7e-3	SMART
Blast:IG_like	192	221	3e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197672

Predicted Effect

probably benign
Transcript: ENSMUST00000198024

Predicted Effect

unknown
Transcript: ENSMUST00000199247
AA Change: D42G

Predicted Effect

probably benign
Transcript: ENSMUST00000199773

SMART Domains

Protein: ENSMUSP00000142492
Gene: ENSMUSG00000066682

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200060

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,759,062 (GRCm39)	E1226G	probably damaging	Het
Arhgef40	G	T	14: 52,234,583 (GRCm39)	S962I	probably damaging	Het
Atp9b	A	T	18: 80,822,169 (GRCm39)	M477K	probably damaging	Het
Enpp2	C	T	15: 54,770,222 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,041,226 (GRCm39)	M727K	possibly damaging	Het
Exo5	A	T	4: 120,779,322 (GRCm39)	I181N	probably damaging	Het
Fbn1	T	C	2: 125,163,112 (GRCm39)		probably null	Het
Gas6	T	C	8: 13,533,700 (GRCm39)	N103S	probably benign	Het
Gm11596	A	T	11: 99,683,699 (GRCm39)	C140*	probably null	Het
Il6st	T	C	13: 112,640,266 (GRCm39)	Y681H	probably damaging	Het
Itih4	T	C	14: 30,611,918 (GRCm39)		probably null	Het
Kdm5b	C	T	1: 134,541,729 (GRCm39)	A768V	possibly damaging	Het
Krt87	A	T	15: 101,385,363 (GRCm39)	N336K	probably damaging	Het
Mfsd6	A	G	1: 52,748,670 (GRCm39)	V65A	probably benign	Het
Nipsnap1	A	G	11: 4,834,081 (GRCm39)	N90S	probably benign	Het
Nlrp9a	C	A	7: 26,260,166 (GRCm39)	D640E	probably benign	Het
Or11h4b	C	T	14: 50,918,720 (GRCm39)	A124T	possibly damaging	Het
Or1l4	A	T	2: 37,092,113 (GRCm39)	M287L	probably benign	Het
Or2j3	A	G	17: 38,615,579 (GRCm39)	C258R	probably damaging	Het
Or5p53	A	C	7: 107,533,578 (GRCm39)	M284L	possibly damaging	Het
Parp9	G	A	16: 35,768,110 (GRCm39)	V97I	possibly damaging	Het
Pdzd2	T	C	15: 12,458,306 (GRCm39)	T12A	possibly damaging	Het
Penk	T	C	4: 4,138,119 (GRCm39)	T9A	probably benign	Het
Pkdrej	A	T	15: 85,700,515 (GRCm39)	V1807E	probably damaging	Het
Ppp1r9a	A	G	6: 4,906,795 (GRCm39)	E450G	possibly damaging	Het
Rag1	T	C	2: 101,473,034 (GRCm39)	R703G	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rmdn3	T	C	2: 118,984,476 (GRCm39)	D92G	probably benign	Het
Rp1l1	G	A	14: 64,267,918 (GRCm39)	G1168D	probably damaging	Het
Saxo1	T	A	4: 86,397,224 (GRCm39)	T105S	probably benign	Het
Slc39a2	G	A	14: 52,131,602 (GRCm39)	G58R	probably damaging	Het
Tbx6	C	T	7: 126,383,891 (GRCm39)	T315I	probably damaging	Het
Tcf12	A	G	9: 71,907,715 (GRCm39)	M99T	probably benign	Het
Tdrd3	A	G	14: 87,718,210 (GRCm39)	D197G	probably damaging	Het
Tnc	T	C	4: 63,936,357 (GRCm39)	N193S	probably damaging	Het
Ttn	A	G	2: 76,680,347 (GRCm39)		probably benign	Het
Vmn1r225	A	G	17: 20,722,588 (GRCm39)	I10V	probably benign	Het
Zp3r	A	G	1: 130,546,079 (GRCm39)	L77P	probably damaging	Het

Other mutations in Pilrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Pilrb2	APN	5	137,865,125 (GRCm39)	missense	probably benign	0.09
R0220:Pilrb2	UTSW	5	137,869,459 (GRCm39)	missense	probably benign	0.00
R1599:Pilrb2	UTSW	5	137,866,859 (GRCm39)	missense	possibly damaging	0.93
R1623:Pilrb2	UTSW	5	137,869,510 (GRCm39)	missense	probably damaging	1.00
R2438:Pilrb2	UTSW	5	137,869,175 (GRCm39)	missense	probably benign	0.00
R5343:Pilrb2	UTSW	5	137,869,228 (GRCm39)	missense	possibly damaging	0.77
R6792:Pilrb2	UTSW	5	137,866,852 (GRCm39)	missense	possibly damaging	0.76
R6974:Pilrb2	UTSW	5	137,870,049 (GRCm39)	start gained	probably benign
R7209:Pilrb2	UTSW	5	137,869,126 (GRCm39)	critical splice donor site	probably null
R8124:Pilrb2	UTSW	5	137,869,306 (GRCm39)	missense	probably damaging	1.00
R9425:Pilrb2	UTSW	5	137,866,964 (GRCm39)	missense	probably benign	0.00
R9446:Pilrb2	UTSW	5	137,869,429 (GRCm39)	missense	possibly damaging	0.87
R9508:Pilrb2	UTSW	5	137,869,261 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACAACTACAAGGGAAGTGCTGTTGG -3'
(R):5'- CACAGATGAGCATAGCCTGGAGATG -3'

Sequencing Primer
(F):5'- CAGAGGTATGGGCAGTTCC -3'
(R):5'- ATGGAAGGATTTCTTTGGGCAC -3'

Posted On

2014-01-05