Mutagenetix > Incidental Mutation

Incidental Mutation 'R8554:Pitpnb'

660014

Institutional Source

Beutler Lab

Gene Symbol

Pitpnb

Ensembl Gene

ENSMUSG00000050017

Gene Name

phosphatidylinositol transfer protein, beta

Synonyms

Pitp beta

MMRRC Submission

068517-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111478629-111536225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111494372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 74 (M74T)

Ref Sequence

ENSEMBL: ENSMUSP00000142732 (fasta)

Gene Model

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

AlphaFold

P53811

Predicted Effect

probably benign
Transcript: ENSMUST00000086635
AA Change: M74T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: M74T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200298
AA Change: M74T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: M74T

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: 99.7%
20x: 99.2%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	G	A	13: 41,969,636 (GRCm39)	T89I	possibly damaging	Het
Aopep	T	A	13: 63,444,711 (GRCm39)	Y94N	possibly damaging	Het
Apc	T	C	18: 34,445,999 (GRCm39)	V947A	probably damaging	Het
Apob	A	C	12: 8,037,830 (GRCm39)	K334N	probably damaging	Het
Camk2d	A	T	3: 126,564,448 (GRCm39)	Q119L	possibly damaging	Het
Ccdc60	A	T	5: 116,328,171 (GRCm39)	F98I	probably damaging	Het
Cd47	A	G	16: 49,688,304 (GRCm39)	T22A	probably benign	Het
Crat	A	G	2: 30,300,035 (GRCm39)	V115A	probably benign	Het
Csmd3	T	C	15: 47,507,538 (GRCm39)	M2992V	probably benign	Het
Dsg4	T	A	18: 20,586,100 (GRCm39)	N263K	probably damaging	Het
Eln	A	C	5: 134,738,964 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,523,228 (GRCm39)	E1284G	unknown	Het
Fam193a	T	A	5: 34,633,115 (GRCm39)	M122K	probably benign	Het
Fcgr1	A	T	3: 96,199,788 (GRCm39)	W40R	probably damaging	Het
Gm3486	T	A	14: 41,209,119 (GRCm39)	Q84L	probably damaging	Het
Golga2	G	A	2: 32,183,357 (GRCm39)	D80N	probably damaging	Het
Isg20	T	C	7: 78,566,425 (GRCm39)	Y125H	probably benign	Het
Kdf1	A	G	4: 133,256,188 (GRCm39)	I302V	probably damaging	Het
Kics2	T	A	10: 121,575,960 (GRCm39)	I27N	probably benign	Het
Krt33a	T	A	11: 99,903,209 (GRCm39)	T278S	possibly damaging	Het
Lrp1b	T	A	2: 41,234,495 (GRCm39)	Q1038L	probably benign	Het
Marchf6	G	A	15: 31,482,976 (GRCm39)	H476Y	probably damaging	Het
Myom1	A	G	17: 71,343,448 (GRCm39)	E215G	possibly damaging	Het
Or2aa1	A	T	11: 59,480,312 (GRCm39)	L201Q	possibly damaging	Het
Or2h15	T	A	17: 38,441,489 (GRCm39)	Q198L	probably damaging	Het
Or4c122	T	C	2: 89,079,595 (GRCm39)	T148A	possibly damaging	Het
Pate11	A	G	9: 36,387,788 (GRCm39)	I25V	probably benign	Het
Pdlim2	T	A	14: 70,408,698 (GRCm39)	T173S	probably benign	Het
Pou2f2	C	A	7: 24,814,981 (GRCm39)		probably benign	Het
Rab35	A	C	5: 115,783,690 (GRCm39)		probably null	Het
Rasef	A	T	4: 73,645,844 (GRCm39)	D508E	probably benign	Het
Rev3l	T	C	10: 39,682,838 (GRCm39)	S319P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgl3	A	G	9: 21,900,159 (GRCm39)	S44P	probably benign	Het
Rnf214	C	A	9: 45,778,797 (GRCm39)		probably null	Het
Rpsa	T	C	9: 119,958,317 (GRCm39)	V76A	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,978,973 (GRCm39)	V529A	probably benign	Het
Siglecg	C	T	7: 43,058,320 (GRCm39)	S69L	probably benign	Het
Sos1	G	T	17: 80,705,842 (GRCm39)	T1243K	probably damaging	Het
Tent5a	T	C	9: 85,208,784 (GRCm39)	D13G	possibly damaging	Het
Tlcd3a	A	G	11: 76,096,244 (GRCm39)	H124R	probably damaging	Het
Tmc2	A	G	2: 130,106,084 (GRCm39)	T872A	probably benign	Het
Tnfrsf8	A	C	4: 145,023,511 (GRCm39)	C107W	probably damaging	Het
Tnn	T	C	1: 159,937,986 (GRCm39)	Y913C	probably damaging	Het
Ttn	T	C	2: 76,568,376 (GRCm39)	T19179A	probably damaging	Het
Usp42	T	A	5: 143,706,137 (GRCm39)	K294N	probably damaging	Het
Vmn1r123	T	A	7: 20,896,971 (GRCm39)	C288S	probably benign	Het
Vmn1r29	T	A	6: 58,285,191 (GRCm39)	*304K	probably null	Het
Vmn2r1	T	C	3: 63,997,334 (GRCm39)	I330T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,997 (GRCm39)	I735V	probably benign	Het
Vmn2r65	T	C	7: 84,595,960 (GRCm39)	I241M	probably benign	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
R9158:Pitpnb	UTSW	5	111,530,876 (GRCm39)	missense	probably damaging	0.98
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'- TGTAAAGCCATCCTCGGTACC -3'
(R):5'- CCCAGAGAAGGCTTTGTTTGG -3'

Sequencing Primer
(F):5'- TGCACAGTAACCCTTACATAGC -3'
(R):5'- AGAGAAGGCTTTGTTTGGTCTAAACC -3'

Posted On

2021-01-18