Mutagenetix > Incidental Mutation

Incidental Mutation 'R0314:Pebp4'

25383

Institutional Source

Beutler Lab

Gene Symbol

Pebp4

Ensembl Gene

ENSMUSG00000022085

Gene Name

phosphatidylethanolamine binding protein 4

Synonyms

1700051A02Rik, 1700081D17Rik

MMRRC Submission

038524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0314 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70077869-70297367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70297103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 214 (S214I)

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: S214I

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022678
Gene: ENSMUSG00000022085
AA Change: S214I

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

Meta Mutation Damage Score

0.2860

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.9%
20x: 88.7%

Validation Efficiency

100% (41/41)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih2	T	C	9: 108,485,878 (GRCm39)	N345D	probably damaging	Het
Ascc3	C	T	10: 50,514,095 (GRCm39)	S298L	possibly damaging	Het
Cacna1e	A	G	1: 154,317,997 (GRCm39)	Y1462H	probably damaging	Het
Car9	T	C	4: 43,509,212 (GRCm39)		probably null	Het
Cenpc1	A	T	5: 86,185,230 (GRCm39)	M427K	probably benign	Het
Chl1	T	A	6: 103,624,262 (GRCm39)	C57S	probably damaging	Het
Cntn3	T	C	6: 102,397,342 (GRCm39)	Y77C	probably damaging	Het
Cobll1	T	C	2: 64,919,865 (GRCm39)	K1187E	possibly damaging	Het
Fkbpl	C	T	17: 34,865,026 (GRCm39)	H265Y	possibly damaging	Het
Fmo1	T	G	1: 162,687,031 (GRCm39)	E32A	probably damaging	Het
Fnip2	G	A	3: 79,388,496 (GRCm39)	T715I	probably damaging	Het
Fzd6	T	A	15: 38,889,128 (GRCm39)	I82K	possibly damaging	Het
Grm5	T	C	7: 87,252,163 (GRCm39)	S138P	probably damaging	Het
Klra5	T	C	6: 129,880,553 (GRCm39)	Y115C	probably damaging	Het
Lgr4	T	C	2: 109,821,438 (GRCm39)		probably benign	Het
Limd1	T	G	9: 123,345,892 (GRCm39)	I557S	probably benign	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Neb	A	T	2: 52,133,343 (GRCm39)	D3398E	probably benign	Het
Nup155	T	C	15: 8,176,736 (GRCm39)	S1005P	probably benign	Het
Or2v2	A	T	11: 49,004,519 (GRCm39)	D11E	possibly damaging	Het
Or52a5b	T	C	7: 103,417,388 (GRCm39)	D72G	probably damaging	Het
Pex26	T	C	6: 121,161,443 (GRCm39)		probably null	Het
Rbbp8	A	T	18: 11,848,875 (GRCm39)	Q230L	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo2	G	A	16: 73,753,525 (GRCm39)	T784M	probably damaging	Het
Slc5a1	T	C	5: 33,303,995 (GRCm39)	I270T	probably benign	Het
Spag4	C	T	2: 155,909,229 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,660,841 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,096,331 (GRCm39)	E1430K	possibly damaging	Het
Timd5	G	A	11: 46,419,364 (GRCm39)	C60Y	probably damaging	Het
Uba6	A	T	5: 86,265,946 (GRCm39)	V956E	probably damaging	Het
Ube2j1	T	A	4: 33,043,991 (GRCm39)		probably benign	Het
Ubr5	A	G	15: 37,997,431 (GRCm39)	S1741P	probably damaging	Het
Vmn2r1	A	G	3: 63,993,980 (GRCm39)	T109A	probably damaging	Het
Vmn2r60	T	C	7: 41,784,985 (GRCm39)		probably benign	Het
Vstm2a	A	G	11: 16,318,388 (GRCm39)		probably benign	Het
Zdhhc20	T	A	14: 58,094,076 (GRCm39)	K195N	probably damaging	Het
Zfp683	A	G	4: 133,786,052 (GRCm39)	Y393C	probably benign	Het
Zzz3	T	C	3: 152,133,085 (GRCm39)	S48P	probably benign	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
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
R6249:Pebp4	UTSW	14	70,297,099 (GRCm39)	missense	possibly damaging	0.50
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'- TGTGCCCCATCATCCTCTAGCAAG -3'
(R):5'- ATGCCAAAAGGAGGTTCCATCCCC -3'

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

Posted On

2013-04-16