Mutagenetix > Incidental Mutation

Incidental Mutation 'R2016:Pitpnm1'

223120

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm1

Ensembl Gene

ENSMUSG00000024851

Gene Name

phosphatidylinositol transfer protein, membrane-associated 1

Synonyms

RdgB, DRES9

MMRRC Submission

040025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4150012-4163966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4161873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 955 (V955A)

Ref Sequence

ENSEMBL: ENSMUSP00000097599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025767] [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000117831] [ENSMUST00000121402]

AlphaFold

O35954

Predicted Effect

probably benign
Transcript: ENSMUST00000025767

SMART Domains

Protein: ENSMUSP00000025767
Gene: ENSMUSG00000024847

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	26	155	5.3e-11	PFAM
PDB:4APO\|B	166	330	1e-113	PDB
SCOP:d1ihga1	170	322	1e-14	SMART
Blast:TPR	231	264	3e-7	BLAST
Blast:TPR	265	298	7e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000049658
AA Change: V955A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: V955A

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

probably benign
Transcript: ENSMUST00000100022
AA Change: V955A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: V955A

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: ENSMUST00000117831

SMART Domains

Protein: ENSMUSP00000113807
Gene: ENSMUSG00000024847

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	26	155	1e-10	PFAM
PDB:4APO\|B	166	330	1e-113	PDB
SCOP:d1ihga1	170	322	1e-14	SMART
Blast:TPR	231	264	3e-7	BLAST
Blast:TPR	265	298	7e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000121402

SMART Domains

Protein: ENSMUSP00000114096
Gene: ENSMUSG00000024847

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	26	155	1.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128798

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abca8a	A	G	11: 109,961,213 (GRCm39)	F570L	probably damaging	Het
Adck1	T	A	12: 88,427,862 (GRCm39)	I493N	probably damaging	Het
Adra2c	T	C	5: 35,437,656 (GRCm39)	C143R	probably damaging	Het
Afg2a	T	C	3: 37,632,911 (GRCm39)	V839A	possibly damaging	Het
Akap13	C	T	7: 75,354,279 (GRCm39)	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Bcam	G	A	7: 19,494,274 (GRCm39)	T374M	probably benign	Het
Blm	T	C	7: 80,155,674 (GRCm39)	D335G	probably benign	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Csf2ra	T	G	19: 61,215,331 (GRCm39)	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,152,856 (GRCm39)	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,921,133 (GRCm39)	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Ddr2	T	C	1: 169,812,537 (GRCm39)	M652V	probably damaging	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Efl1	A	C	7: 82,402,917 (GRCm39)	D673A	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Erap1	T	C	13: 74,812,270 (GRCm39)	W362R	probably damaging	Het
Fam234a	A	G	17: 26,437,290 (GRCm39)	F91L	probably benign	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Garin5b	A	T	7: 4,762,397 (GRCm39)	I244N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gnl3	A	G	14: 30,738,326 (GRCm39)		probably null	Het
Has1	A	T	17: 18,068,532 (GRCm39)	I274N	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Itsn1	T	C	16: 91,702,389 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kif13a	T	C	13: 46,964,275 (GRCm39)	D475G	probably benign	Het
Klhl20	A	T	1: 160,930,608 (GRCm39)	M298K	probably damaging	Het
Kynu	G	T	2: 43,494,289 (GRCm39)	G241*	probably null	Het
Lrif1	G	T	3: 106,639,522 (GRCm39)	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,660,056 (GRCm39)	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,311,393 (GRCm39)	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Mettl25	T	A	10: 105,633,167 (GRCm39)	E425D	probably benign	Het
Midn	G	T	10: 79,985,949 (GRCm39)	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,777,713 (GRCm39)	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,817,187 (GRCm39)	V61M	probably damaging	Het
Nalcn	T	C	14: 123,831,993 (GRCm39)		probably null	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252 (GRCm39)	C595Y	probably damaging	Het
Or10d4	A	G	9: 39,580,851 (GRCm39)	Y166C	probably damaging	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or4l15	A	G	14: 50,197,959 (GRCm39)	I190T	probably benign	Het
Or5w1b	C	T	2: 87,476,396 (GRCm39)	V24M	probably benign	Het
Or8b1	A	T	9: 38,399,309 (GRCm39)		probably null	Het
Pds5a	T	A	5: 65,805,350 (GRCm39)		probably null	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,913,722 (GRCm39)	V244M	probably damaging	Het
Plk1	A	G	7: 121,761,663 (GRCm39)	K257R	probably damaging	Het
Prkcg	A	T	7: 3,372,066 (GRCm39)	T460S	probably damaging	Het
Prl7d1	G	A	13: 27,894,156 (GRCm39)	H138Y	probably damaging	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Pwwp2b	A	T	7: 138,836,067 (GRCm39)	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Sall1	A	G	8: 89,755,037 (GRCm39)	V1314A	probably benign	Het
Sema6c	A	G	3: 95,078,545 (GRCm39)	I549V	probably benign	Het
Slc17a1	A	G	13: 24,062,522 (GRCm39)	S230G	probably benign	Het
Slc5a4a	T	G	10: 75,989,414 (GRCm39)	F106V	probably benign	Het
Stat6	T	C	10: 127,486,665 (GRCm39)	L147P	probably damaging	Het
Taar7d	T	A	10: 23,903,642 (GRCm39)	S175T	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tmem132b	A	G	5: 125,700,080 (GRCm39)	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,061 (GRCm39)	D231G	probably benign	Het
Trim66	A	G	7: 109,071,439 (GRCm39)		probably null	Het
Ttll9	A	T	2: 152,844,214 (GRCm39)	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,056,493 (GRCm39)	D548E	probably damaging	Het
Zcchc2	T	A	1: 105,931,851 (GRCm39)		probably null	Het
Zfp282	T	A	6: 47,874,721 (GRCm39)		probably null	Het
Zfp352	A	G	4: 90,113,408 (GRCm39)	E516G	probably benign	Het

Other mutations in Pitpnm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Pitpnm1	APN	19	4,160,665 (GRCm39)	splice site	probably null
IGL00978:Pitpnm1	APN	19	4,151,228 (GRCm39)	missense	possibly damaging	0.61
IGL02039:Pitpnm1	APN	19	4,155,032 (GRCm39)	missense	probably benign	0.01
IGL02122:Pitpnm1	APN	19	4,157,796 (GRCm39)	missense	probably damaging	1.00
IGL02279:Pitpnm1	APN	19	4,151,207 (GRCm39)	missense	probably damaging	1.00
IGL02316:Pitpnm1	APN	19	4,162,835 (GRCm39)	missense	probably benign	0.16
IGL02434:Pitpnm1	APN	19	4,153,377 (GRCm39)	missense	probably benign	0.00
R0926:Pitpnm1	UTSW	19	4,162,338 (GRCm39)	missense	probably damaging	1.00
R1301:Pitpnm1	UTSW	19	4,160,831 (GRCm39)	splice site	probably null
R1423:Pitpnm1	UTSW	19	4,162,392 (GRCm39)	missense	probably damaging	1.00
R1592:Pitpnm1	UTSW	19	4,156,964 (GRCm39)	critical splice donor site	probably null
R1733:Pitpnm1	UTSW	19	4,159,960 (GRCm39)	nonsense	probably null
R1844:Pitpnm1	UTSW	19	4,162,395 (GRCm39)	missense	probably damaging	1.00
R1971:Pitpnm1	UTSW	19	4,162,450 (GRCm39)	missense	probably damaging	1.00
R1978:Pitpnm1	UTSW	19	4,157,973 (GRCm39)	splice site	probably null
R2017:Pitpnm1	UTSW	19	4,161,873 (GRCm39)	missense	probably benign	0.25
R2019:Pitpnm1	UTSW	19	4,163,641 (GRCm39)	missense	probably damaging	1.00
R2210:Pitpnm1	UTSW	19	4,155,253 (GRCm39)	missense	probably damaging	1.00
R2393:Pitpnm1	UTSW	19	4,160,935 (GRCm39)	missense	probably benign	0.02
R3434:Pitpnm1	UTSW	19	4,162,234 (GRCm39)	missense	probably damaging	1.00
R3439:Pitpnm1	UTSW	19	4,162,752 (GRCm39)	missense	probably benign	0.00
R4554:Pitpnm1	UTSW	19	4,153,085 (GRCm39)	missense	probably benign	0.16
R4555:Pitpnm1	UTSW	19	4,153,085 (GRCm39)	missense	probably benign	0.16
R4557:Pitpnm1	UTSW	19	4,153,085 (GRCm39)	missense	probably benign	0.16
R4831:Pitpnm1	UTSW	19	4,158,130 (GRCm39)	missense	probably damaging	1.00
R4874:Pitpnm1	UTSW	19	4,162,252 (GRCm39)	critical splice donor site	probably null
R5058:Pitpnm1	UTSW	19	4,162,758 (GRCm39)	missense	probably benign	0.00
R5069:Pitpnm1	UTSW	19	4,161,140 (GRCm39)	missense	probably benign	0.44
R5249:Pitpnm1	UTSW	19	4,158,130 (GRCm39)	missense	probably damaging	1.00
R5288:Pitpnm1	UTSW	19	4,153,435 (GRCm39)	missense	probably damaging	0.99
R5385:Pitpnm1	UTSW	19	4,153,435 (GRCm39)	missense	probably damaging	0.99
R5619:Pitpnm1	UTSW	19	4,153,270 (GRCm39)	missense	probably damaging	1.00
R5650:Pitpnm1	UTSW	19	4,153,319 (GRCm39)	missense	possibly damaging	0.78
R6267:Pitpnm1	UTSW	19	4,160,522 (GRCm39)	missense	probably damaging	1.00
R6341:Pitpnm1	UTSW	19	4,152,829 (GRCm39)	nonsense	probably null
R6608:Pitpnm1	UTSW	19	4,160,875 (GRCm39)	missense	probably damaging	1.00
R6739:Pitpnm1	UTSW	19	4,160,522 (GRCm39)	missense	probably damaging	1.00
R6915:Pitpnm1	UTSW	19	4,156,947 (GRCm39)	missense	possibly damaging	0.95
R7141:Pitpnm1	UTSW	19	4,152,787 (GRCm39)	missense	probably damaging	0.97
R7751:Pitpnm1	UTSW	19	4,153,470 (GRCm39)	missense	probably benign	0.02
R8057:Pitpnm1	UTSW	19	4,162,145 (GRCm39)	missense	probably null	0.71
R8210:Pitpnm1	UTSW	19	4,162,878 (GRCm39)	critical splice donor site	probably null
R8415:Pitpnm1	UTSW	19	4,155,454 (GRCm39)	missense	probably benign	0.37
R8462:Pitpnm1	UTSW	19	4,155,135 (GRCm39)	missense	probably benign	0.03
R8808:Pitpnm1	UTSW	19	4,162,356 (GRCm39)	missense	possibly damaging	0.94
R9060:Pitpnm1	UTSW	19	4,156,869 (GRCm39)	missense	probably damaging	0.96
R9646:Pitpnm1	UTSW	19	4,153,269 (GRCm39)	missense	probably damaging	1.00
R9766:Pitpnm1	UTSW	19	4,158,117 (GRCm39)	missense	probably benign	0.10
Z1177:Pitpnm1	UTSW	19	4,159,996 (GRCm39)	missense	probably null	1.00
Z1177:Pitpnm1	UTSW	19	4,155,009 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGGATGTGGTCACGCTCAC -3'
(R):5'- CCATGGAAGCATGGCATGAG -3'

Sequencing Primer
(F):5'- ATGTGGTCACGCTCACTGGAG -3'
(R):5'- CATGGCATGAGTGGATAGGGTG -3'

Posted On

2014-08-25