Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:Bpifb2'

32860

Institutional Source

Beutler Lab

Gene Symbol

Bpifb2

Ensembl Gene

ENSMUSG00000027481

Gene Name

BPI fold containing family B, member 2

Synonyms

2310069A01Rik, Bpil1, 2310034L21Rik

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R0044 (G1)

Quality Score

210

Status

Validated (trace)

Chromosome

Chromosomal Location

153716965-153737190 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 153724599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028983]

AlphaFold

Q8C1E1

Predicted Effect

probably benign
Transcript: ENSMUST00000028983

SMART Domains

Protein: ENSMUSP00000028983
Gene: ENSMUSG00000027481

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	36	194	2.4e-27	PFAM
BPI2	253	456	2.67e-26	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	C	9: 107,219,698 (GRCm39)	R50S	probably damaging	Het
Actn2	G	T	13: 12,290,013 (GRCm39)	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,053,641 (GRCm39)	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,876,018 (GRCm39)	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,776,834 (GRCm39)	M447L	probably damaging	Het
Asxl1	C	T	2: 153,242,129 (GRCm39)	T893I	probably benign	Het
Atp11b	T	A	3: 35,866,401 (GRCm39)	I400N	probably damaging	Het
Capn1	T	A	19: 6,064,373 (GRCm39)	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,279,138 (GRCm39)	L190H	probably damaging	Het
Cfap54	T	C	10: 92,871,295 (GRCm39)	I594V	probably null	Het
Cpsf1	A	G	15: 76,483,753 (GRCm39)	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,153,815 (GRCm39)	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,168,116 (GRCm39)	Y386D	probably damaging	Het
Degs2	T	C	12: 108,658,413 (GRCm39)	N189D	probably damaging	Het
Dido1	C	T	2: 180,303,612 (GRCm39)	A1431T	probably damaging	Het
Diras1	G	T	10: 80,857,972 (GRCm39)	S93*	probably null	Het
E130308A19Rik	T	A	4: 59,690,290 (GRCm39)	H41Q	possibly damaging	Het
Ebf2	C	T	14: 67,548,417 (GRCm39)		probably benign	Het
Fcho2	A	G	13: 98,892,052 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,358,020 (GRCm39)	Y681*	probably null	Het
Gm10036	A	C	18: 15,965,873 (GRCm39)	K8T	probably benign	Het
Herc1	T	A	9: 66,355,457 (GRCm39)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,302,520 (GRCm39)	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,715,170 (GRCm39)	C119S	probably benign	Het
Kif1b	A	G	4: 149,348,058 (GRCm39)		probably benign	Het
Kif6	T	C	17: 50,139,284 (GRCm39)		probably benign	Het
Lpin1	A	T	12: 16,618,530 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,357,899 (GRCm39)	I377V	probably benign	Het
Mavs	C	A	2: 131,083,944 (GRCm39)	T147N	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mreg	T	G	1: 72,201,534 (GRCm39)	T153P	probably damaging	Het
Naglu	T	C	11: 100,962,043 (GRCm39)	I172T	probably damaging	Het
Odad4	A	T	11: 100,457,827 (GRCm39)	I477F	probably damaging	Het
Ogdhl	T	C	14: 32,061,285 (GRCm39)	V492A	possibly damaging	Het
Or4a72	A	G	2: 89,405,974 (GRCm39)	I32T	possibly damaging	Het
Parvg	A	G	15: 84,222,083 (GRCm39)	E323G	probably benign	Het
Pgap1	A	G	1: 54,532,527 (GRCm39)	L664S	probably damaging	Het
Pgm2l1	A	G	7: 99,899,539 (GRCm39)	N51S	probably benign	Het
Pik3r6	A	G	11: 68,435,576 (GRCm39)	T609A	probably benign	Het
Plcb4	T	A	2: 135,813,776 (GRCm39)	V705E	probably damaging	Het
Plppr5	T	A	3: 117,465,538 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,120,989 (GRCm39)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,004,566 (GRCm39)	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,402 (GRCm39)	I1655N	probably damaging	Het
Raf1	T	A	6: 115,600,476 (GRCm39)	D10V	probably benign	Het
Rexo1	T	A	10: 80,380,212 (GRCm39)	Q928L	probably benign	Het
Rpl7l1	A	C	17: 47,089,456 (GRCm39)		probably null	Het
Rrm2b	A	G	15: 37,953,932 (GRCm39)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,321,113 (GRCm39)		probably null	Het
Sgtb	A	G	13: 104,265,768 (GRCm39)	T93A	probably benign	Het
Sigirr	G	T	7: 140,672,226 (GRCm39)		probably null	Het
Slc16a7	T	C	10: 125,063,951 (GRCm39)	D462G	probably benign	Het
Slc25a30	C	T	14: 76,007,089 (GRCm39)	A85T	probably benign	Het
Spata24	A	G	18: 35,789,887 (GRCm39)	S167P	probably damaging	Het
Spock3	C	T	8: 63,597,041 (GRCm39)	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,247,289 (GRCm39)	I581T	possibly damaging	Het
Syn2	A	T	6: 115,112,108 (GRCm39)	M23L	unknown	Het
Synrg	G	A	11: 83,900,007 (GRCm39)	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,314,327 (GRCm39)		probably benign	Het
Tnfaip3	C	A	10: 18,887,374 (GRCm39)	M50I	probably damaging	Het
Topbp1	T	A	9: 103,202,972 (GRCm39)	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,494,003 (GRCm39)	V321G	probably benign	Het
Ubr2	A	G	17: 47,303,911 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,164,369 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,269,281 (GRCm39)		probably benign	Het
Vmn2r100	A	T	17: 19,742,441 (GRCm39)	I272L	possibly damaging	Het
Vrtn	T	A	12: 84,695,379 (GRCm39)	L43H	probably damaging	Het
Wnk1	G	T	6: 120,014,110 (GRCm39)	R162S	probably damaging	Het
Xkr9	G	A	1: 13,754,286 (GRCm39)	W93*	probably null	Het
Zfp804b	G	T	5: 6,819,655 (GRCm39)	P1136H	probably damaging	Het

Other mutations in Bpifb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02001:Bpifb2	APN	2	153,733,195 (GRCm39)	splice site	probably benign
IGL02164:Bpifb2	APN	2	153,725,482 (GRCm39)	missense	probably damaging	0.99
IGL03063:Bpifb2	APN	2	153,731,044 (GRCm39)	missense	probably damaging	1.00
R0044:Bpifb2	UTSW	2	153,724,599 (GRCm39)	splice site	probably benign
R0084:Bpifb2	UTSW	2	153,733,011 (GRCm39)	missense	probably benign	0.03
R0791:Bpifb2	UTSW	2	153,720,439 (GRCm39)	missense	probably benign	0.05
R1503:Bpifb2	UTSW	2	153,731,430 (GRCm39)	missense	possibly damaging	0.83
R2278:Bpifb2	UTSW	2	153,720,399 (GRCm39)	nonsense	probably null
R3810:Bpifb2	UTSW	2	153,733,871 (GRCm39)	missense	probably benign	0.04
R3812:Bpifb2	UTSW	2	153,733,871 (GRCm39)	missense	probably benign	0.04
R4030:Bpifb2	UTSW	2	153,733,237 (GRCm39)	missense	probably benign	0.30
R4573:Bpifb2	UTSW	2	153,731,412 (GRCm39)	missense	probably damaging	0.99
R4713:Bpifb2	UTSW	2	153,723,113 (GRCm39)	missense	probably damaging	0.98
R5143:Bpifb2	UTSW	2	153,720,424 (GRCm39)	missense	probably damaging	1.00
R5523:Bpifb2	UTSW	2	153,717,905 (GRCm39)	unclassified	probably benign
R5899:Bpifb2	UTSW	2	153,733,050 (GRCm39)	missense	probably damaging	1.00
R6011:Bpifb2	UTSW	2	153,731,496 (GRCm39)	splice site	probably null
R6172:Bpifb2	UTSW	2	153,732,332 (GRCm39)	missense	probably benign	0.15
R6378:Bpifb2	UTSW	2	153,733,072 (GRCm39)	missense	possibly damaging	0.93
R6878:Bpifb2	UTSW	2	153,717,832 (GRCm39)	unclassified	probably benign
R7381:Bpifb2	UTSW	2	153,734,268 (GRCm39)	missense	probably benign	0.01
R7390:Bpifb2	UTSW	2	153,731,726 (GRCm39)	missense	possibly damaging	0.89
R7424:Bpifb2	UTSW	2	153,732,460 (GRCm39)	missense	possibly damaging	0.93
R7473:Bpifb2	UTSW	2	153,723,116 (GRCm39)	missense	possibly damaging	0.80
R7493:Bpifb2	UTSW	2	153,731,397 (GRCm39)	missense	possibly damaging	0.74
R8145:Bpifb2	UTSW	2	153,733,232 (GRCm39)	missense	probably damaging	1.00
R8178:Bpifb2	UTSW	2	153,733,876 (GRCm39)	missense	probably damaging	0.99
R8725:Bpifb2	UTSW	2	153,731,356 (GRCm39)	missense	possibly damaging	0.47
R8960:Bpifb2	UTSW	2	153,731,046 (GRCm39)	missense	possibly damaging	0.90
R9201:Bpifb2	UTSW	2	153,733,903 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ATCTCTGGACTGCTGACTGAGGAC -3'
(R):5'- CATGCATTGGAGCACATACACACAG -3'

Sequencing Primer
(F):5'- CTGAGGACAGAGACTTCTGC -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-05-09