Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02271:Pilrb2'

287151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pilrb2

Ensembl Gene

ENSMUSG00000066682

Gene Name

paired immunoglobin-like type 2 receptor beta 2

Synonyms

EG545812

Accession Numbers

Essential gene?

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

Stock #

IGL02271

Quality Score

Status

Chromosome

Chromosomal Location

137864089-137870077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137865125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 223 (D223G)

Ref Sequence

ENSEMBL: ENSMUSP00000131233 (fasta)

Gene Model

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

AlphaFold

Q2YFS1

Predicted Effect

probably benign
Transcript: ENSMUST00000164886
AA Change: D223G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131233
Gene: ENSMUSG00000066682
AA Change: D223G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196162

SMART Domains

Protein: ENSMUSP00000143064
Gene: ENSMUSG00000066682

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

unknown
Transcript: ENSMUST00000198024
AA Change: D26G

Predicted Effect

probably benign
Transcript: ENSMUST00000199247

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astn1	C	T	1: 158,338,520 (GRCm39)		probably benign	Het
Bms1	C	A	6: 118,366,290 (GRCm39)	V1068F	probably benign	Het
Cand1	A	T	10: 119,047,626 (GRCm39)	N621K	probably damaging	Het
Cd44	C	T	2: 102,661,732 (GRCm39)	E418K	possibly damaging	Het
Clip2	A	T	5: 134,531,425 (GRCm39)	N758K	probably benign	Het
Cst11	A	T	2: 148,613,161 (GRCm39)	Y55N	probably damaging	Het
Cytip	A	T	2: 58,023,872 (GRCm39)	L316*	probably null	Het
Ddx52	T	C	11: 83,843,057 (GRCm39)	M352T	probably damaging	Het
Fancd2	G	A	6: 113,512,720 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,034,068 (GRCm39)	E2573D	probably benign	Het
Fbxl13	T	G	5: 21,695,454 (GRCm39)	D646A	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Grid2ip	A	G	5: 143,374,664 (GRCm39)	D928G	probably benign	Het
Hmgxb3	A	G	18: 61,265,285 (GRCm39)	L1231P	probably damaging	Het
Ifitm7	A	G	16: 13,801,541 (GRCm39)	F73L	probably damaging	Het
Ikbkb	T	A	8: 23,155,919 (GRCm39)	T583S	probably benign	Het
Kdm6b	G	A	11: 69,296,893 (GRCm39)	A458V	possibly damaging	Het
Klra2	T	C	6: 131,207,180 (GRCm39)	K143R	probably benign	Het
Kmt2d	A	G	15: 98,764,309 (GRCm39)	S42P	possibly damaging	Het
Krt78	T	A	15: 101,857,028 (GRCm39)	M360L	probably benign	Het
Lamb1	A	G	12: 31,350,250 (GRCm39)	N677S	probably damaging	Het
Lrrc9	G	A	12: 72,557,155 (GRCm39)	V1407I	probably benign	Het
Myo6	A	G	9: 80,168,113 (GRCm39)	T426A	probably benign	Het
Net1	T	C	13: 3,937,663 (GRCm39)	Y146C	probably damaging	Het
Nlrp4d	T	A	7: 10,122,625 (GRCm39)		noncoding transcript	Het
Notch4	A	T	17: 34,787,445 (GRCm39)	N335I	probably damaging	Het
Or14j6	A	T	17: 38,215,134 (GRCm39)	E232D	probably benign	Het
Or5ac20	A	T	16: 59,104,584 (GRCm39)	I92K	probably damaging	Het
Or8b53	A	T	9: 38,667,784 (GRCm39)	T267S	probably benign	Het
Pax3	A	T	1: 78,171,969 (GRCm39)	H80Q	probably damaging	Het
Pclo	A	T	5: 14,729,508 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,348,567 (GRCm39)	D869G	probably damaging	Het
Per2	T	C	1: 91,373,332 (GRCm39)	Y152C	probably damaging	Het
Rag1	T	A	2: 101,473,733 (GRCm39)	I470F	probably damaging	Het
Rap1gap	T	C	4: 137,445,317 (GRCm39)	S333P	probably damaging	Het
Rundc3b	A	G	5: 8,542,530 (GRCm39)	Y430H	probably damaging	Het
Ryr1	T	C	7: 28,793,472 (GRCm39)	D1332G	probably benign	Het
Sgo1	G	A	17: 53,986,567 (GRCm39)	A208V	possibly damaging	Het
Skint5	C	T	4: 113,794,778 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc28a3	A	T	13: 58,706,451 (GRCm39)	S597T	probably benign	Het
Slc4a5	T	A	6: 83,248,085 (GRCm39)		probably benign	Het
Slc52a3	A	G	2: 151,847,448 (GRCm39)		probably benign	Het
Stac3	A	G	10: 127,339,768 (GRCm39)	D158G	probably benign	Het
Tdo2	T	C	3: 81,871,224 (GRCm39)		probably benign	Het
Usp25	A	T	16: 76,912,335 (GRCm39)	E1018V	probably damaging	Het
Vmn1r46	T	A	6: 89,953,886 (GRCm39)	F245Y	probably damaging	Het

Other mutations in Pilrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0220:Pilrb2	UTSW	5	137,869,459 (GRCm39)	missense	probably benign	0.00
R1126:Pilrb2	UTSW	5	137,869,222 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16