Mutagenetix > Incidental Mutation

Incidental Mutation 'R2017:Pitpnm1'

223308

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm1

Ensembl Gene

ENSMUSG00000024851

Gene Name

phosphatidylinositol transfer protein, membrane-associated 1

Synonyms

RdgB, DRES9

MMRRC Submission

040026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2017 (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: 98.4%
10x: 96.7%
20x: 93.7%

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: 85 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
Abcc1	T	A	16: 14,279,068 (GRCm39)	V1126E	probably damaging	Het
Abcc12	A	G	8: 87,290,617 (GRCm39)	L41S	probably damaging	Het
Adgrg7	T	C	16: 56,553,169 (GRCm39)	T643A	probably benign	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apc	A	G	18: 34,446,655 (GRCm39)	T1150A	probably benign	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Apool	T	A	X: 111,274,258 (GRCm39)	S234T	probably benign	Het
Ascc3	C	T	10: 50,566,307 (GRCm39)	P751S	probably benign	Het
Astn2	G	A	4: 65,459,178 (GRCm39)	T1079I	probably 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
Bcas1	A	C	2: 170,190,081 (GRCm39)		probably null	Het
Btk	T	C	X: 133,448,350 (GRCm39)	D355G	probably benign	Het
C2cd4c	A	G	10: 79,448,823 (GRCm39)	V108A	possibly damaging	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Cd22	A	T	7: 30,572,205 (GRCm39)	L423Q	probably damaging	Het
Cep128	T	C	12: 91,333,238 (GRCm39)	D9G	probably damaging	Het
Cer1	A	T	4: 82,801,120 (GRCm39)	V181D	probably damaging	Het
Ciita	T	C	16: 10,329,540 (GRCm39)	L584P	probably damaging	Het
Cmss1	T	C	16: 57,136,641 (GRCm39)	D77G	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Cyria	T	A	12: 12,412,362 (GRCm39)	V208D	probably damaging	Het
Dcaf1	A	G	9: 106,725,122 (GRCm39)	E536G	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dsg1c	T	C	18: 20,399,253 (GRCm39)	V119A	possibly damaging	Het
Edn3	A	G	2: 174,620,455 (GRCm39)	E103G	probably benign	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Epx	T	C	11: 87,765,163 (GRCm39)	D178G	probably damaging	Het
Fkbp10	G	A	11: 100,312,499 (GRCm39)	V252I	possibly damaging	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Gla	C	T	X: 133,497,071 (GRCm39)	A39T	probably damaging	Het
Hivep2	C	T	10: 14,006,501 (GRCm39)	T1033M	probably damaging	Het
Hsd17b8	A	T	17: 34,245,187 (GRCm39)	M259K	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Ikzf4	C	T	10: 128,470,026 (GRCm39)	G498D	probably damaging	Het
Impg1	T	C	9: 80,322,720 (GRCm39)	Y95C	probably damaging	Het
Ino80c	T	A	18: 24,244,810 (GRCm39)	K136*	probably null	Het
Iqsec1	A	C	6: 90,666,912 (GRCm39)	H508Q	probably benign	Het
Itgb3	A	G	11: 104,528,788 (GRCm39)	H305R	possibly damaging	Het
Jup	T	A	11: 100,277,167 (GRCm39)	T14S	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	T	C	14: 100,260,073 (GRCm39)	R219G	possibly damaging	Het
Klhl42	G	T	6: 147,009,291 (GRCm39)	V377L	probably benign	Het
Large1	A	G	8: 73,578,825 (GRCm39)	F460S	probably damaging	Het
Loxl3	A	T	6: 83,025,958 (GRCm39)	D402V	probably damaging	Het
Lrrc37a	T	A	11: 103,391,951 (GRCm39)	Y1158F	probably benign	Het
Map2	T	A	1: 66,451,958 (GRCm39)	S365T	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Med26	A	G	8: 73,250,791 (GRCm39)	S103P	probably damaging	Het
Muc4	T	C	16: 32,570,121 (GRCm39)	S394P	possibly damaging	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Obox5	T	C	7: 15,492,807 (GRCm39)	I254T	probably benign	Het
Or1p1c	T	A	11: 74,161,159 (GRCm39)	W315R	probably benign	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or52j3	T	C	7: 102,836,137 (GRCm39)	F110L	probably benign	Het
Or7c19	T	C	8: 85,957,373 (GRCm39)	L83P	possibly damaging	Het
Pacs2	A	T	12: 113,026,077 (GRCm39)	N545Y	probably damaging	Het
Palld	T	C	8: 62,137,799 (GRCm39)	E652G	probably damaging	Het
Pgm5	T	C	19: 24,801,676 (GRCm39)	N184S	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Pramel13	A	G	4: 144,121,244 (GRCm39)	V260A	possibly damaging	Het
Prr36	T	A	8: 4,265,205 (GRCm39)	T182S	probably benign	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
Ptprm	G	T	17: 67,264,148 (GRCm39)		probably null	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Rfx6	A	G	10: 51,597,700 (GRCm39)	N513S	possibly damaging	Het
Rhbdf1	A	G	11: 32,160,471 (GRCm39)	I693T	probably damaging	Het
Scn9a	T	C	2: 66,345,665 (GRCm39)	T1143A	probably damaging	Het
Spata17	A	G	1: 186,780,650 (GRCm39)	S366P	possibly damaging	Het
Svep1	A	G	4: 58,070,568 (GRCm39)	L2406P	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tgfb2	A	T	1: 186,362,962 (GRCm39)	Y287*	probably null	Het
Trip11	A	T	12: 101,851,619 (GRCm39)	V815E	probably benign	Het
Trp53bp2	G	T	1: 182,276,580 (GRCm39)	V854L	probably benign	Het
Vmn1r78	T	C	7: 11,887,270 (GRCm39)	S294P	possibly damaging	Het
Vmn2r86	T	C	10: 130,282,582 (GRCm39)	K678R	probably benign	Het
Yeats2	T	A	16: 19,977,931 (GRCm39)	N138K	probably benign	Het
Zup1	A	T	10: 33,803,460 (GRCm39)	N541K	possibly damaging	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
R2016: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'- TCACGCTCACTGGAGAGAAG -3'
(R):5'- CCCTATGTTCCATGGAAGCATG -3'

Sequencing Primer
(F):5'- CGCTCACTGGAGAGAAGGTCAG -3'
(R):5'- CCATGGAAGCATGGCATGAGTG -3'

Posted On

2014-08-25