Mutagenetix > Incidental Mutation

Incidental Mutation 'R5899:Bpifb2'

457713

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

044098-MU

Accession Numbers

Essential gene?

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

Stock #

R5899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153716965-153737190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153733050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 378 (K378E)

Ref Sequence

ENSEMBL: ENSMUSP00000028983 (fasta)

Gene Model

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

AlphaFold

Q8C1E1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028983
AA Change: K378E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028983
Gene: ENSMUSG00000027481
AA Change: K378E

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

0.0983

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

93% (56/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	C	10: 20,876,465 (GRCm39)	I792T	probably benign	Het
Anks1b	T	A	10: 90,759,379 (GRCm39)		probably null	Het
Ano3	T	G	2: 110,693,232 (GRCm39)	D122A	probably benign	Het
Atp12a	T	C	14: 56,610,801 (GRCm39)	V315A	probably benign	Het
B230104I21Rik	G	T	4: 154,433,986 (GRCm39)	G57*	probably null	Het
Cdk5rap2	T	C	4: 70,161,830 (GRCm39)		probably benign	Het
Ceacam23	A	G	7: 17,651,369 (GRCm39)	D840G	possibly damaging	Het
Cflar	A	G	1: 58,791,927 (GRCm39)	D410G	probably benign	Het
Clcn6	A	G	4: 148,102,049 (GRCm39)	V345A	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Ddx50	T	A	10: 62,476,596 (GRCm39)	K226*	probably null	Het
Dnah5	T	C	15: 28,448,513 (GRCm39)	V4192A	possibly damaging	Het
Dnah8	G	A	17: 30,875,659 (GRCm39)	D494N	probably benign	Het
Dock7	A	T	4: 98,879,660 (GRCm39)	C965S	probably benign	Het
Dst	C	T	1: 34,334,370 (GRCm39)	A5083V	probably damaging	Het
E130208F15Rik	T	C	7: 30,021,726 (GRCm39)	Q10R	probably damaging	Het
Fbxw15	T	C	9: 109,384,741 (GRCm39)		probably null	Het
Fxr2	A	G	11: 69,543,511 (GRCm39)	N671D	probably damaging	Het
Gbp7	A	G	3: 142,252,303 (GRCm39)	T629A	probably benign	Het
Grm1	T	C	10: 10,565,092 (GRCm39)	Y1072C	probably benign	Het
Hmcn2	A	T	2: 31,244,685 (GRCm39)	E714V	possibly damaging	Het
Hsd17b13	T	A	5: 104,113,730 (GRCm39)	E205D	probably benign	Het
Igf2bp3	A	G	6: 49,094,084 (GRCm39)		probably benign	Het
Il2ra	A	G	2: 11,689,248 (GRCm39)	H259R	probably benign	Het
Klk15	G	T	7: 43,588,247 (GRCm39)	R185L	probably benign	Het
Map3k11	T	G	19: 5,745,937 (GRCm39)		probably null	Het
Morn3	A	G	5: 123,179,166 (GRCm39)	W95R	probably damaging	Het
Nipbl	A	G	15: 8,364,328 (GRCm39)		probably null	Het
Nrap	A	T	19: 56,329,006 (GRCm39)	V1145D	possibly damaging	Het
Or1e35	A	G	11: 73,797,755 (GRCm39)	S188P	probably damaging	Het
Or2l13b	C	T	16: 19,349,551 (GRCm39)	G40R	probably damaging	Het
Or9k2	T	A	10: 129,998,542 (GRCm39)	I218F	probably benign	Het
Pdcd11	A	G	19: 47,093,198 (GRCm39)	N492S	possibly damaging	Het
Ptgfr	C	T	3: 151,540,738 (GRCm39)	V257I	probably damaging	Het
Racgap1	T	C	15: 99,521,509 (GRCm39)	E549G	possibly damaging	Het
Rfx3	T	C	19: 27,808,165 (GRCm39)	T193A	probably damaging	Het
Rplp0	T	A	5: 115,699,489 (GRCm39)	I149N	probably benign	Het
Samd7	T	G	3: 30,810,883 (GRCm39)	I300S	probably benign	Het
Scpep1	A	G	11: 88,825,402 (GRCm39)		probably null	Het
Senp6	T	C	9: 80,049,352 (GRCm39)		probably benign	Het
Serpinb2	G	T	1: 107,447,446 (GRCm39)	G78V	probably damaging	Het
Sesn1	T	C	10: 41,687,189 (GRCm39)	S58P	probably benign	Het
Skic3	A	G	13: 76,259,938 (GRCm39)		probably null	Het
Spg11	T	C	2: 121,928,680 (GRCm39)	D591G	possibly damaging	Het
Spire2	A	C	8: 124,080,833 (GRCm39)	S26R	probably damaging	Het
Strip2	T	A	6: 29,956,957 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,697,519 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,460,924 (GRCm39)	Y750C	probably damaging	Het
Wnt11	T	A	7: 98,488,383 (GRCm39)	Y23*	probably null	Het
Zbp1	T	A	2: 173,052,340 (GRCm39)	D272V	probably benign	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
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
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'- TTCTGGAAGGATCCCAGGGAAG -3'
(R):5'- AACAGAGCCCACATTGGAGG -3'

Sequencing Primer
(F):5'- AGGGCCCCCACATGTCATC -3'
(R):5'- CACATTGGAGGTGGCCACAG -3'

Posted On

2017-02-15