Mutagenetix > Incidental Mutation

Incidental Mutation 'R9251:Pitpnb'

701544

Institutional Source

Beutler Lab

Gene Symbol

Pitpnb

Ensembl Gene

ENSMUSG00000050017

Gene Name

phosphatidylinositol transfer protein, beta

Synonyms

Pitp beta

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111478629-111536225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111533390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 258 (R258H)

Ref Sequence

ENSEMBL: ENSMUSP00000083835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]

AlphaFold

P53811

Predicted Effect

probably benign
Transcript: ENSMUST00000086635
AA Change: R258H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: R258H

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	252	2.4e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200298

SMART Domains

Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	254	3.9e-145	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded protein catalyzes the transfer of phospholipids (phosphatidylinositol and phosphatidylcholine) between membranes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice die before E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	G	T	16: 38,423,218 (GRCm39)	N949K	probably benign	Het
Arv1	T	A	8: 125,452,062 (GRCm39)	I76N	probably damaging	Het
Cfap44	G	A	16: 44,229,276 (GRCm39)	A189T	probably damaging	Het
Ch25h	T	C	19: 34,451,769 (GRCm39)	Y253C	probably damaging	Het
Cnot11	T	C	1: 39,581,587 (GRCm39)	M376T	probably damaging	Het
Cnot7	T	C	8: 40,964,622 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 118,012,618 (GRCm39)	S481F	probably benign	Het
Dnah2	C	T	11: 69,406,619 (GRCm39)	R541Q	probably damaging	Het
Dnah7a	C	T	1: 53,621,671 (GRCm39)	M1151I	probably damaging	Het
Dpf2	T	C	19: 5,957,166 (GRCm39)	D19G	probably damaging	Het
Eefsec	A	T	6: 88,332,574 (GRCm39)	M212K	probably damaging	Het
Elp6	G	A	9: 110,134,666 (GRCm39)	V12I	unknown	Het
Enox1	G	A	14: 77,852,997 (GRCm39)		probably null	Het
Epha1	G	T	6: 42,341,777 (GRCm39)	N424K	probably damaging	Het
Fam171a1	T	C	2: 3,226,525 (GRCm39)	S553P	probably benign	Het
Fbxw21	A	G	9: 108,974,687 (GRCm39)	S278P	probably damaging	Het
Gm45861	T	C	8: 28,032,589 (GRCm39)		probably null	Het
Gm4846	T	A	1: 166,311,307 (GRCm39)	R517S	probably benign	Het
Gnrhr	A	G	5: 86,345,221 (GRCm39)	L155P	possibly damaging	Het
Igfn1	C	T	1: 135,894,409 (GRCm39)		probably benign	Het
Ik	T	A	18: 36,880,495 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,717,391 (GRCm39)	Q763L	probably benign	Het
Klf5	G	T	14: 99,538,824 (GRCm39)	C79F	possibly damaging	Het
Lrrcc1	A	T	3: 14,623,454 (GRCm39)	R760S	probably damaging	Het
Map3k7	T	A	4: 32,002,080 (GRCm39)		probably benign	Het
Mapkbp1	C	T	2: 119,853,671 (GRCm39)	A1159V	probably benign	Het
Mgst3	C	T	1: 167,205,860 (GRCm39)		probably null	Het
Mtch2	T	A	2: 90,679,980 (GRCm39)	F71I	probably damaging	Het
Myo1e	A	G	9: 70,276,076 (GRCm39)	I764V	probably benign	Het
Myo3b	T	A	2: 70,088,425 (GRCm39)	L896*	probably null	Het
Ndufs5	T	G	4: 123,606,628 (GRCm39)	E103A	probably benign	Het
Nfe2l1	G	A	11: 96,710,421 (GRCm39)	P603S	probably damaging	Het
Or6c211	T	A	10: 129,505,980 (GRCm39)	N136I	possibly damaging	Het
Or8g34	A	T	9: 39,373,668 (GRCm39)	M311L	probably benign	Het
Piezo1	T	C	8: 123,219,354 (GRCm39)	N1093S		Het
Pla2g4d	T	C	2: 120,099,378 (GRCm39)	E708G	possibly damaging	Het
Plppr4	T	A	3: 117,115,608 (GRCm39)	T750S	probably benign	Het
Prrg4	T	G	2: 104,675,399 (GRCm39)	E68A	probably damaging	Het
Rcan2	C	T	17: 44,328,701 (GRCm39)	T90M	possibly damaging	Het
Rlbp1	T	C	7: 79,027,093 (GRCm39)	E189G	probably damaging	Het
Satb1	A	G	17: 52,112,293 (GRCm39)	F107S	probably damaging	Het
Sdc3	A	T	4: 130,548,513 (GRCm39)		probably benign	Het
Slc22a3	A	T	17: 12,726,093 (GRCm39)	V40D	probably damaging	Het
Slc35d1	A	G	4: 103,048,027 (GRCm39)		probably null	Het
Slfn1	T	C	11: 83,012,121 (GRCm39)	F79S	probably damaging	Het
Snrpg	G	T	6: 86,353,557 (GRCm39)	V46L	probably benign	Het
Tbl1xr1	G	A	3: 22,264,569 (GRCm39)	C508Y	probably benign	Het
Thada	A	T	17: 84,538,564 (GRCm39)	D1481E	probably benign	Het
Tnfsf8	A	G	4: 63,779,217 (GRCm39)	V27A	probably benign	Het
Tns1	T	C	1: 74,030,855 (GRCm39)	H300R	probably damaging	Het
Ttc13	C	A	8: 125,401,992 (GRCm39)	G589V	probably benign	Het
Ttc28	A	G	5: 111,040,698 (GRCm39)	I29V	possibly damaging	Het
Tubb4a	T	A	17: 57,387,778 (GRCm39)	N416I	possibly damaging	Het
Ubr4	T	A	4: 139,177,636 (GRCm39)	I1884N		Het
Usp16	A	G	16: 87,266,640 (GRCm39)	K175E	probably benign	Het
Usp24	A	G	4: 106,217,715 (GRCm39)	I479M	probably benign	Het
Utrn	T	C	10: 12,512,531 (GRCm39)	T2313A	probably benign	Het
Ythdc2	T	C	18: 44,974,442 (GRCm39)	V368A	probably benign	Het
Zfp628	T	C	7: 4,923,880 (GRCm39)	S701P	probably damaging	Het

Other mutations in Pitpnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Pitpnb	APN	5	111,486,222 (GRCm39)	missense	probably damaging	1.00
IGL02388:Pitpnb	APN	5	111,478,699 (GRCm39)	missense	possibly damaging	0.58
IGL03124:Pitpnb	APN	5	111,478,696 (GRCm39)	missense	possibly damaging	0.55
R0349:Pitpnb	UTSW	5	111,494,992 (GRCm39)	missense	possibly damaging	0.74
R4276:Pitpnb	UTSW	5	111,519,258 (GRCm39)	splice site	probably null
R4589:Pitpnb	UTSW	5	111,519,214 (GRCm39)	missense	probably damaging	1.00
R4702:Pitpnb	UTSW	5	111,519,218 (GRCm39)	missense	probably benign	0.00
R4888:Pitpnb	UTSW	5	111,530,862 (GRCm39)	missense	possibly damaging	0.89
R5048:Pitpnb	UTSW	5	111,530,869 (GRCm39)	missense	possibly damaging	0.47
R6154:Pitpnb	UTSW	5	111,486,263 (GRCm39)	nonsense	probably null
R8554:Pitpnb	UTSW	5	111,494,372 (GRCm39)	missense	probably benign	0.00
R9158:Pitpnb	UTSW	5	111,530,876 (GRCm39)	missense	probably damaging	0.98
R9353:Pitpnb	UTSW	5	111,530,891 (GRCm39)	missense	probably damaging	1.00
X0022:Pitpnb	UTSW	5	111,497,406 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGTTTGTTGGAGCCAGGAC -3'
(R):5'- GGCTGACGGTTTCTACGATG -3'

Sequencing Primer
(F):5'- GGACCATTTGAAGGTCTCAGAACTC -3'
(R):5'- ACGGTTTCTACGATGGACATC -3'

Posted On

2022-03-25