Mutagenetix > Incidental Mutation

Incidental Mutation 'R9158:Pitpnb'

695504

Institutional Source

Beutler Lab

Gene Symbol

Pitpnb

Ensembl Gene

ENSMUSG00000050017

Gene Name

phosphatidylinositol transfer protein, beta

Synonyms

Pitp beta

MMRRC Submission

068942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111478629-111536225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111530876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 223 (N223I)

Ref Sequence

ENSEMBL: ENSMUSP00000142732 (fasta)

Gene Model

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

AlphaFold

P53811

Predicted Effect

probably damaging
Transcript: ENSMUST00000086635
AA Change: N223I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: N223I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200298
AA Change: N223I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: N223I

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

Meta Mutation Damage Score

0.1612

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,645 (GRCm39)	C637Y	probably damaging	Het
Ahdc1	A	G	4: 132,792,505 (GRCm39)	T1249A	possibly damaging	Het
Alkbh3	A	G	2: 93,835,082 (GRCm39)	S88P	probably damaging	Het
Ankrd17	C	A	5: 90,416,575 (GRCm39)	A1086S	probably damaging	Het
Ankzf1	T	A	1: 75,173,020 (GRCm39)	V372E	probably damaging	Het
Apbb1ip	T	C	2: 22,764,951 (GRCm39)	V544A	probably benign	Het
Atp13a2	T	C	4: 140,724,112 (GRCm39)		probably null	Het
Cacna2d1	A	G	5: 16,140,039 (GRCm39)	T10A	probably benign	Het
Cadps	T	C	14: 12,546,356 (GRCm38)	N500S	probably benign	Het
Casp16	A	G	17: 23,769,948 (GRCm39)		probably benign	Het
Cdh22	T	A	2: 165,012,627 (GRCm39)	I153F	probably damaging	Het
Clip2	T	C	5: 134,521,251 (GRCm39)	E964G	probably benign	Het
Cracdl	A	T	1: 37,670,442 (GRCm39)	M166K	probably damaging	Het
Cryga	T	C	1: 65,142,198 (GRCm39)	D65G	probably benign	Het
Dap3	A	G	3: 88,832,637 (GRCm39)	Y357H	probably damaging	Het
Eef2	C	T	10: 81,014,693 (GRCm39)		probably benign	Het
Gja4	A	G	4: 127,206,466 (GRCm39)	L99P	probably damaging	Het
Glb1l3	A	T	9: 26,765,005 (GRCm39)	Y135*	probably null	Het
Gm5114	T	G	7: 39,060,486 (GRCm39)	D121A	probably damaging	Het
Gm6525	A	G	3: 84,082,255 (GRCm39)	K59E	probably benign	Het
Herc1	C	T	9: 66,376,400 (GRCm39)	L3407F	probably benign	Het
Hmgcr	G	A	13: 96,792,170 (GRCm39)	R589*	probably null	Het
Iglv3	A	C	16: 19,060,012 (GRCm39)	D105E	probably damaging	Het
Il1r1	G	A	1: 40,332,391 (GRCm39)	W60*	probably null	Het
Il31ra	C	T	13: 112,670,394 (GRCm39)	W331*	probably null	Het
Inca1	C	T	11: 70,581,376 (GRCm39)	C16Y	probably damaging	Het
Inpp4a	A	G	1: 37,442,552 (GRCm39)	T628A	possibly damaging	Het
Kdm2a	C	G	19: 4,374,715 (GRCm39)	R805S	possibly damaging	Het
Kel	T	A	6: 41,664,905 (GRCm39)	I620L	probably benign	Het
Kmt2d	C	T	15: 98,741,020 (GRCm39)	G4638R	unknown	Het
Lilrb4b	T	A	10: 51,357,829 (GRCm39)	N174K	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltf	T	A	9: 110,868,003 (GRCm39)	V615E	probably damaging	Het
Map7d1	G	T	4: 126,130,478 (GRCm39)	Q443K	possibly damaging	Het
Mapk9	A	G	11: 49,745,095 (GRCm39)	D3G	probably benign	Het
Nktr	T	G	9: 121,582,154 (GRCm39)	S1424A	unknown	Het
Npas1	A	G	7: 16,195,333 (GRCm39)	S332P	possibly damaging	Het
Or13a25	T	C	7: 140,247,547 (GRCm39)	S109P	possibly damaging	Het
Or52n2c	T	C	7: 104,574,086 (GRCm39)	Y295C	probably damaging	Het
Or5ak4	A	G	2: 85,161,348 (GRCm39)	I298T	probably benign	Het
Or6d12	T	C	6: 116,492,791 (GRCm39)	F18L	possibly damaging	Het
Or8b12b	C	A	9: 37,684,800 (GRCm39)	P282T	probably damaging	Het
Pcdh8	A	G	14: 80,005,182 (GRCm39)	W948R	probably damaging	Het
Pde3a	A	G	6: 141,195,614 (GRCm39)	E100G	probably benign	Het
Phrf1	T	A	7: 140,836,466 (GRCm39)	V246D	unknown	Het
Pkd1l3	A	T	8: 110,394,207 (GRCm39)	R2065*	probably null	Het
Prepl	T	C	17: 85,383,379 (GRCm39)	D355G	possibly damaging	Het
Runx2	A	G	17: 45,046,508 (GRCm39)	V5A	probably benign	Het
Sema4g	T	A	19: 44,986,846 (GRCm39)	V433D	possibly damaging	Het
Sema6a	C	T	18: 47,431,330 (GRCm39)	V123I	probably damaging	Het
Senp6	A	G	9: 79,994,732 (GRCm39)	K24E	probably benign	Het
Slc22a8	T	A	19: 8,583,427 (GRCm39)	S211T	probably damaging	Het
Slc34a2	A	G	5: 53,221,217 (GRCm39)	D221G	possibly damaging	Het
Tmprss11g	A	T	5: 86,637,166 (GRCm39)	L323Q	probably damaging	Het
Tpcn1	T	C	5: 120,687,988 (GRCm39)		probably benign	Het
Trim65	G	A	11: 116,018,050 (GRCm39)	T311I	probably benign	Het
Tub	T	C	7: 108,625,962 (GRCm39)	F284L	possibly damaging	Het
Ube2j1	G	A	4: 33,036,711 (GRCm39)	V12I	probably benign	Het
Vmn2r101	A	T	17: 19,809,161 (GRCm39)	N97Y	probably benign	Het
Vmn2r49	C	A	7: 9,722,835 (GRCm39)	W146C	probably damaging	Het
Zfp628	T	C	7: 4,922,153 (GRCm39)	L125P	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
R9251:Pitpnb	UTSW	5	111,533,390 (GRCm39)	missense	probably benign	0.20
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'- TGATAGTAGGACAGAATTAAGGTTTCT -3'
(R):5'- CTTCAGCAAGTCTAAGTAGTCTCT -3'

Sequencing Primer
(F):5'- TTGAGACAAGTCTGTACATACCCCTG -3'
(R):5'- GCAAGTCTAAGTAGTCTCTAAGCATG -3'

Posted On

2022-01-20