Mutagenetix > Incidental Mutation

Incidental Mutation 'R8725:Bpifb2'

673158

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

068574-MU

Accession Numbers

Essential gene?

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

Stock #

R8725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153716965-153737190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153731356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 244 (H244R)

Ref Sequence

ENSEMBL: ENSMUSP00000028983 (fasta)

Gene Model

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

AlphaFold

Q8C1E1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028983
AA Change: H244R

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028983
Gene: ENSMUSG00000027481
AA Change: H244R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,287,075 (GRCm39)	W69R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Ahdc1	T	A	4: 132,792,743 (GRCm39)	V1328E	possibly damaging	Het
Camk1	C	A	6: 113,315,109 (GRCm39)	V199L	probably damaging	Het
Ccdc18	A	T	5: 108,328,283 (GRCm39)	K661I	possibly damaging	Het
Cdh16	C	T	8: 105,344,874 (GRCm39)	V444I	probably benign	Het
Cep295	A	T	9: 15,243,715 (GRCm39)	Y1580*	probably null	Het
Cntnap5c	A	T	17: 58,362,663 (GRCm39)	N339Y	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Deup1	T	A	9: 15,503,721 (GRCm39)	D280V	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Evpl	T	A	11: 116,113,019 (GRCm39)	D1557V	probably benign	Het
Ext1	A	G	15: 53,208,065 (GRCm39)	V232A	possibly damaging	Het
Gdpd5	T	C	7: 99,105,726 (GRCm39)	I514T	possibly damaging	Het
Gm14443	A	T	2: 175,010,693 (GRCm39)	C584*	probably null	Het
Gm2696	T	A	10: 77,672,034 (GRCm39)	C78S	unknown	Het
Gm4131	T	C	14: 62,701,300 (GRCm39)	D276G	possibly damaging	Het
Gm5114	C	T	7: 39,060,657 (GRCm39)	G64D	probably benign	Het
Gsx2	G	T	5: 75,236,755 (GRCm39)	A112S	probably benign	Het
Hebp1	G	T	6: 135,114,919 (GRCm39)	R181S	probably damaging	Het
Hectd4	G	A	5: 121,488,557 (GRCm39)	G3616D	probably damaging	Het
Hemgn	T	G	4: 46,394,638 (GRCm39)	T491P	probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,636,721 (GRCm39)	S723P	unknown	Het
Kat6a	G	A	8: 23,398,293 (GRCm39)	G287D	probably damaging	Het
Ktn1	T	G	14: 47,907,757 (GRCm39)		probably benign	Het
Lrrc56	C	A	7: 140,778,246 (GRCm39)	D79E	possibly damaging	Het
Lrrn1	C	T	6: 107,544,303 (GRCm39)	Q34*	probably null	Het
Mlxipl	A	G	5: 135,157,483 (GRCm39)	M340V	probably benign	Het
Mroh6	T	C	15: 75,756,563 (GRCm39)	T604A	possibly damaging	Het
Or13a26	G	T	7: 140,284,607 (GRCm39)	V148L	probably benign	Het
Or1n1	T	A	2: 36,749,610 (GRCm39)	Y250F	probably damaging	Het
Or4c122	A	T	2: 89,079,658 (GRCm39)	S115T	probably benign	Het
Palb2	A	C	7: 121,710,884 (GRCm39)	V1022G	unknown	Het
Pank1	T	G	19: 34,855,989 (GRCm39)	H163P	possibly damaging	Het
Pcdha12	A	G	18: 37,154,736 (GRCm39)	Q485R	probably benign	Het
Pcdhb15	T	A	18: 37,608,734 (GRCm39)	S655R	probably damaging	Het
Pcdhgb1	T	A	18: 37,814,467 (GRCm39)	C319*	probably null	Het
Pipox	A	T	11: 77,774,804 (GRCm39)	L93*	probably null	Het
Pkd1l1	A	C	11: 8,911,482 (GRCm39)	V265G		Het
Pld3	G	A	7: 27,239,079 (GRCm39)	Q149*	probably null	Het
Pramel34	A	T	5: 93,784,316 (GRCm39)	Y383N	probably damaging	Het
Prpf3	T	A	3: 95,748,021 (GRCm39)	T415S	possibly damaging	Het
Rasgef1b	G	A	5: 99,447,895 (GRCm39)	T105I	unknown	Het
Rere	G	T	4: 150,701,792 (GRCm39)	E24*	probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Ric3	A	T	7: 108,637,924 (GRCm39)	D277E	probably benign	Het
Rnf44	A	T	13: 54,831,826 (GRCm39)	M82K	probably damaging	Het
Rsph14	T	C	10: 74,795,516 (GRCm39)	N223S	probably benign	Het
Rusc2	A	G	4: 43,415,396 (GRCm39)	E234G	probably damaging	Het
Scfd2	T	C	5: 74,642,900 (GRCm39)	N349S	probably benign	Het
Sema3d	G	A	5: 12,555,822 (GRCm39)	C183Y	probably damaging	Het
Setd2	T	C	9: 110,402,912 (GRCm39)	I74T		Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Slc9a8	A	T	2: 167,315,454 (GRCm39)	D526V	probably damaging	Het
Smpdl3b	G	T	4: 132,461,060 (GRCm39)	T339N	probably damaging	Het
Speer1e	A	T	5: 11,236,408 (GRCm39)	Q147L	probably benign	Het
Spi1	G	A	2: 90,945,516 (GRCm39)	G199D	probably damaging	Het
Stx2	T	C	5: 129,070,564 (GRCm39)	T118A	probably damaging	Het
Synj2	C	A	17: 6,088,015 (GRCm39)	S1355R	possibly damaging	Het
Taf15	A	G	11: 83,389,964 (GRCm39)	T245A	probably benign	Het
Tnrc6b	C	T	15: 80,760,653 (GRCm39)	A120V	probably damaging	Het
Usp19	G	T	9: 108,370,934 (GRCm39)	G198W	probably damaging	Het
Wdtc1	G	T	4: 133,041,114 (GRCm39)	H46N	probably damaging	Het
Zbtb1	C	A	12: 76,432,646 (GRCm39)	R211S	probably damaging	Het
Zc3h8	A	G	2: 128,775,207 (GRCm39)	V151A	probably benign	Het
Zfp219	T	C	14: 52,244,899 (GRCm39)	T499A	possibly damaging	Het
Zfp689	A	G	7: 127,047,940 (GRCm39)	F31L	probably damaging	Het
Zfp879	C	T	11: 50,729,321 (GRCm39)	D26N	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
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
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'- TCCTAAGACGGTAGAGGGTG -3'
(R):5'- TGCATCTACAGCATGACCC -3'

Sequencing Primer
(F):5'- CTAAGACGGTAGAGGGTGAAGGG -3'
(R):5'- TACAGGGCGCCCTTCTACAAG -3'

Posted On

2021-04-30