Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Pitpnb'

342668

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 #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111478629-111536225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111519214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 165 (S165T)

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: S165T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: S165T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196192

Predicted Effect

probably damaging
Transcript: ENSMUST00000200298
AA Change: S165T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: S165T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	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
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
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'- TGGTGGCCTTCTATCAGAGTTC -3'
(R):5'- GGCCCTAAGTCTTTATCACAGAC -3'

Sequencing Primer
(F):5'- GTGGCCTTCTATCAGAGTTCAACAC -3'
(R):5'- GTCTTTATCACAGACAAATCCCTCTG -3'

Posted On

2015-09-24