Mutagenetix > Incidental Mutation

Incidental Mutation 'R6249:Pebp4'

505875

Institutional Source

Beutler Lab

Gene Symbol

Pebp4

Ensembl Gene

ENSMUSG00000022085

Gene Name

phosphatidylethanolamine binding protein 4

Synonyms

1700051A02Rik, 1700081D17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70077869-70297367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70297099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 213 (T213S)

Ref Sequence

ENSEMBL: ENSMUSP00000022678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022678]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022678
AA Change: T213S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022678
Gene: ENSMUSG00000022085
AA Change: T213S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	31	47	N/A	INTRINSIC
Pfam:PBP	83	226	6.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224990

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 115,702,505 (GRCm39)	S90C	probably damaging	Het
Abca9	T	C	11: 110,036,453 (GRCm39)	D552G	probably benign	Het
Adgrb3	A	G	1: 25,471,639 (GRCm39)	L502P	probably damaging	Het
Agmo	T	C	12: 37,293,837 (GRCm39)		probably null	Het
Ank3	A	G	10: 69,658,906 (GRCm39)		probably null	Het
Apol11b	G	T	15: 77,519,537 (GRCm39)	T181K	probably benign	Het
Arap2	G	T	5: 62,803,536 (GRCm39)	H1244N	probably damaging	Het
Arid1b	A	T	17: 5,329,636 (GRCm39)	M838L	possibly damaging	Het
Aste1	G	A	9: 105,273,816 (GRCm39)	V19I	probably benign	Het
B3gnt3	A	T	8: 72,145,306 (GRCm39)	M354K	probably damaging	Het
Calcr	A	T	6: 3,692,711 (GRCm39)	M381K	possibly damaging	Het
Ccdc63	A	C	5: 122,263,062 (GRCm39)	L160W	probably benign	Het
Cerkl	A	G	2: 79,199,122 (GRCm39)	L156P	probably damaging	Het
Csnk2a1-ps3	A	G	1: 156,352,800 (GRCm39)	M334V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddb1	C	A	19: 10,583,084 (GRCm39)	Y5*	probably null	Het
Fignl2	T	C	15: 100,952,060 (GRCm39)	E74G	possibly damaging	Het
Glb1l2	C	T	9: 26,676,850 (GRCm39)		probably benign	Het
Gm16503	A	G	4: 147,625,508 (GRCm39)	M1V	probably null	Het
Gm2696	A	C	10: 77,630,646 (GRCm39)		probably benign	Het
Gm45844	A	G	7: 7,243,092 (GRCm39)	S20P	probably benign	Het
Gm7579	C	T	7: 141,765,743 (GRCm39)	P50S	unknown	Het
Idh1	A	G	1: 65,205,378 (GRCm39)	S196P	probably damaging	Het
Il1rap	T	C	16: 26,511,598 (GRCm39)	V214A	possibly damaging	Het
Kctd17	C	G	15: 78,314,239 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,105,599 (GRCm39)	V2036L	probably benign	Het
Lars1	G	T	18: 42,390,271 (GRCm39)		probably null	Het
Mdn1	T	A	4: 32,708,484 (GRCm39)	V1670E	possibly damaging	Het
Mtmr7	A	T	8: 41,034,524 (GRCm39)	I266N	probably damaging	Het
Ncapd3	GGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTG	9: 26,999,349 (GRCm39)		probably benign	Het
Nckap5	T	C	1: 125,952,667 (GRCm39)	E1295G	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Or13p3	A	G	4: 118,566,910 (GRCm39)	Y102C	probably damaging	Het
Or2a5	G	T	6: 42,874,238 (GRCm39)	L284F	probably damaging	Het
Or2aj4	T	A	16: 19,384,725 (GRCm39)	N303Y	probably damaging	Het
Or51q1	A	T	7: 103,628,818 (GRCm39)	S140C	possibly damaging	Het
Or5h22	T	C	16: 58,894,795 (GRCm39)	Y216C	probably damaging	Het
Or8b44	T	G	9: 38,410,880 (GRCm39)	I305R	unknown	Het
Pcdha4	T	A	18: 37,086,729 (GRCm39)	V304E	probably damaging	Het
Pde6c	T	C	19: 38,147,008 (GRCm39)		probably null	Het
Phf2	C	A	13: 48,959,348 (GRCm39)	R886L	unknown	Het
Pik3ca	A	T	3: 32,515,712 (GRCm39)	H795L	probably damaging	Het
Pisd	G	T	5: 32,896,188 (GRCm39)	T379N	probably damaging	Het
Pld2	T	C	11: 70,446,196 (GRCm39)	L732P	probably damaging	Het
Pskh1	A	G	8: 106,639,617 (GRCm39)	D99G	possibly damaging	Het
Rest	A	G	5: 77,429,071 (GRCm39)	T497A	probably benign	Het
Rps24	C	T	14: 24,543,530 (GRCm39)	T108M	possibly damaging	Het
Rtel1	C	T	2: 180,993,475 (GRCm39)	R566C	probably damaging	Het
Scyl2	A	G	10: 89,493,719 (GRCm39)	S350P	possibly damaging	Het
Slc38a7	G	T	8: 96,564,302 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,779,009 (GRCm39)	I674T	probably benign	Het
Spata31f1a	A	T	4: 42,850,528 (GRCm39)	W543R	probably benign	Het
Surf4	C	A	2: 26,816,899 (GRCm39)	E39D	probably damaging	Het
Tas2r144	T	A	6: 42,192,291 (GRCm39)	Y10*	probably null	Het
Thbs4	C	T	13: 92,911,215 (GRCm39)	G323R	probably damaging	Het
Top2b	A	G	14: 16,399,006 (GRCm38)	Y542C	probably damaging	Het
Trim61	A	G	8: 65,467,108 (GRCm39)	V51A	probably benign	Het
Tyrp1	T	A	4: 80,769,009 (GRCm39)	I501N	possibly damaging	Het
U2surp	C	T	9: 95,382,869 (GRCm39)	D32N	probably benign	Het
Ush1c	T	C	7: 45,864,383 (GRCm39)	Y411C	probably damaging	Het
Vwa7	G	A	17: 35,242,365 (GRCm39)	V490I	probably benign	Het
Xylt1	G	T	7: 117,266,528 (GRCm39)	A849S	probably benign	Het
Ythdc1	T	A	5: 86,979,815 (GRCm39)	N599K	possibly damaging	Het
Zbtb38	T	A	9: 96,568,045 (GRCm39)	Y1013F	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zswim9	T	C	7: 12,994,903 (GRCm39)	S418G	probably damaging	Het

Other mutations in Pebp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Pebp4	APN	14	70,297,105 (GRCm39)	missense	possibly damaging	0.65
R0314:Pebp4	UTSW	14	70,297,103 (GRCm39)	missense	possibly damaging	0.66
R0636:Pebp4	UTSW	14	70,285,796 (GRCm39)	splice site	probably benign
R1677:Pebp4	UTSW	14	70,285,923 (GRCm39)	critical splice donor site	probably null
R5484:Pebp4	UTSW	14	70,200,991 (GRCm39)	splice site	probably null
R7204:Pebp4	UTSW	14	70,085,046 (GRCm39)	missense	probably benign
R7357:Pebp4	UTSW	14	70,285,864 (GRCm39)	missense	possibly damaging	0.51
R7702:Pebp4	UTSW	14	70,297,056 (GRCm39)	missense	probably benign	0.00
R7936:Pebp4	UTSW	14	70,089,082 (GRCm39)	missense	probably damaging	1.00
R8474:Pebp4	UTSW	14	70,085,136 (GRCm39)	missense	possibly damaging	0.86
R8829:Pebp4	UTSW	14	70,285,916 (GRCm39)	missense	probably benign
R8883:Pebp4	UTSW	14	70,085,098 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGTGTGTTAGGGCTCTCTAAG -3'
(R):5'- AAAGGAGGTTCCATCCCCAGAC -3'

Sequencing Primer
(F):5'- GCTAGAAGATTCTCCATGCAGTAC -3'
(R):5'- TCCCCAGACCACCTGTAGTG -3'

Posted On

2018-02-28