Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Pitpnm1'

539314

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm1

Ensembl Gene

ENSMUSG00000024851

Gene Name

phosphatidylinositol transfer protein, membrane-associated 1

Synonyms

DRES9, RdgB

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4099998-4113965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4106947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 490 (Y490C)

Ref Sequence

ENSEMBL: ENSMUSP00000097599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000131265]

AlphaFold

O35954

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049658
AA Change: Y490C

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: Y490C

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	252	2e-145	PFAM
low complexity region	284	304	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
low complexity region	342	349	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	557	571	N/A	INTRINSIC
low complexity region	578	593	N/A	INTRINSIC
DDHD	685	879	5.94e-86	SMART
Blast:DDHD	880	963	2e-42	BLAST
LNS2	1022	1153	1.35e-57	SMART
low complexity region	1184	1195	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100022
AA Change: Y490C

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: Y490C

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	250	1.6e-113	PFAM
low complexity region	284	304	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
low complexity region	342	349	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	557	571	N/A	INTRINSIC
low complexity region	578	593	N/A	INTRINSIC
DDHD	685	879	5.94e-86	SMART
Blast:DDHD	880	963	2e-42	BLAST
LNS2	1022	1153	1.35e-57	SMART
low complexity region	1184	1195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131265

SMART Domains

Protein: ENSMUSP00000120563
Gene: ENSMUSG00000024851

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	252	5e-147	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male-specific decrease in circulating cholesterol and circulating calcium levels and female-specific decreased leukocyte cell numbers and a slight increase in auditory brainstem response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212	Q183*	probably null	Het
Atp8b4	A	T	2: 126,358,914	L778*	probably null	Het
BC024139	G	T	15: 76,120,021	N739K	probably benign	Het
Carns1	T	G	19: 4,169,913	H441P	probably benign	Het
Cfap70	T	A	14: 20,409,085	I693F	probably benign	Het
Cldn3	A	G	5: 134,986,572	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,436,068	I269F	probably damaging	Het
Dapk1	A	T	13: 60,696,442	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397		probably null	Het
Dzip3	T	C	16: 48,942,125	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748	V160F	probably benign	Het
Gak	A	T	5: 108,602,950	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119		probably null	Het
Gm21738	A	G	14: 19,415,933	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256		probably null	Het
Muc4	T	C	16: 32,766,938	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057		probably benign	Het
Olfr1428	A	G	19: 12,109,126	V140A	probably benign	Het
Olfr372	C	A	8: 72,057,730	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945	T18M	probably benign	Het
Per3	T	C	4: 151,043,649	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181	R759Q	probably benign	Het
Plcb4	A	T	2: 135,947,115	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137	N106D	probably damaging	Het
Rbm15	C	A	3: 107,332,311	R257L	probably benign	Het
Rptor	T	G	11: 119,756,345	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,853,851	V379L	possibly damaging	Het
Sox8	C	T	17: 25,567,914	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031	Y738*	probably null	Het

Other mutations in Pitpnm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Pitpnm1	APN	19	4110665	splice site	probably null
IGL00978:Pitpnm1	APN	19	4101228	missense	possibly damaging	0.61
IGL02039:Pitpnm1	APN	19	4105032	missense	probably benign	0.01
IGL02122:Pitpnm1	APN	19	4107796	missense	probably damaging	1.00
IGL02279:Pitpnm1	APN	19	4101207	missense	probably damaging	1.00
IGL02316:Pitpnm1	APN	19	4112835	missense	probably benign	0.16
IGL02434:Pitpnm1	APN	19	4103377	missense	probably benign	0.00
R0926:Pitpnm1	UTSW	19	4112338	missense	probably damaging	1.00
R1301:Pitpnm1	UTSW	19	4110831	splice site	probably null
R1423:Pitpnm1	UTSW	19	4112392	missense	probably damaging	1.00
R1592:Pitpnm1	UTSW	19	4106964	critical splice donor site	probably null
R1733:Pitpnm1	UTSW	19	4109960	nonsense	probably null
R1844:Pitpnm1	UTSW	19	4112395	missense	probably damaging	1.00
R1971:Pitpnm1	UTSW	19	4112450	missense	probably damaging	1.00
R1978:Pitpnm1	UTSW	19	4107973	splice site	probably null
R2016:Pitpnm1	UTSW	19	4111873	missense	probably benign	0.25
R2017:Pitpnm1	UTSW	19	4111873	missense	probably benign	0.25
R2019:Pitpnm1	UTSW	19	4113641	missense	probably damaging	1.00
R2210:Pitpnm1	UTSW	19	4105253	missense	probably damaging	1.00
R2393:Pitpnm1	UTSW	19	4110935	missense	probably benign	0.02
R3434:Pitpnm1	UTSW	19	4112234	missense	probably damaging	1.00
R3439:Pitpnm1	UTSW	19	4112752	missense	probably benign	0.00
R4554:Pitpnm1	UTSW	19	4103085	missense	probably benign	0.16
R4555:Pitpnm1	UTSW	19	4103085	missense	probably benign	0.16
R4557:Pitpnm1	UTSW	19	4103085	missense	probably benign	0.16
R4831:Pitpnm1	UTSW	19	4108130	missense	probably damaging	1.00
R4874:Pitpnm1	UTSW	19	4112252	critical splice donor site	probably null
R5058:Pitpnm1	UTSW	19	4112758	missense	probably benign	0.00
R5069:Pitpnm1	UTSW	19	4111140	missense	probably benign	0.44
R5249:Pitpnm1	UTSW	19	4108130	missense	probably damaging	1.00
R5288:Pitpnm1	UTSW	19	4103435	missense	probably damaging	0.99
R5385:Pitpnm1	UTSW	19	4103435	missense	probably damaging	0.99
R5619:Pitpnm1	UTSW	19	4103270	missense	probably damaging	1.00
R5650:Pitpnm1	UTSW	19	4103319	missense	possibly damaging	0.78
R6267:Pitpnm1	UTSW	19	4110522	missense	probably damaging	1.00
R6341:Pitpnm1	UTSW	19	4102829	nonsense	probably null
R6608:Pitpnm1	UTSW	19	4110875	missense	probably damaging	1.00
R6739:Pitpnm1	UTSW	19	4110522	missense	probably damaging	1.00
R7141:Pitpnm1	UTSW	19	4102787	missense	probably damaging	0.97
R7751:Pitpnm1	UTSW	19	4103470	missense	probably benign	0.02
R8057:Pitpnm1	UTSW	19	4112145	missense	probably null	0.71
R8210:Pitpnm1	UTSW	19	4112878	critical splice donor site	probably null
R8415:Pitpnm1	UTSW	19	4105454	missense	probably benign	0.37
R8462:Pitpnm1	UTSW	19	4105135	missense	probably benign	0.03
R8808:Pitpnm1	UTSW	19	4112356	missense	possibly damaging	0.94
R9060:Pitpnm1	UTSW	19	4106869	missense	probably damaging	0.96
R9646:Pitpnm1	UTSW	19	4103269	missense	probably damaging	1.00
R9766:Pitpnm1	UTSW	19	4108117	missense	probably benign	0.10
Z1177:Pitpnm1	UTSW	19	4105009	missense	probably benign
Z1177:Pitpnm1	UTSW	19	4109996	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CATGTTCTGCTCATTGCTGG -3'
(R):5'- TTAAGCACAGACAGACACGTAG -3'

Sequencing Primer
(F):5'- TGGCCACTGATCTGACACC -3'
(R):5'- GTAGGCAAAACACCCATGTAC -3'

Posted On

2018-11-06