Mutagenetix > Incidental Mutation

Incidental Mutation 'R6267:Pitpnm1'

507124

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm1

Ensembl Gene

ENSMUSG00000024851

Gene Name

phosphatidylinositol transfer protein, membrane-associated 1

Synonyms

RdgB, DRES9

MMRRC Submission

044405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4150012-4163966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4160522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 781 (L781P)

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 damaging
Transcript: ENSMUST00000049658
AA Change: L781P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: L781P

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 damaging
Transcript: ENSMUST00000100022
AA Change: L781P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: L781P

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: ENSMUST00000128798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151957

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,414,860 (GRCm39)	T341A	probably damaging	Het
Acer2	T	C	4: 86,792,823 (GRCm39)	F33S	probably damaging	Het
Actr1b	A	G	1: 36,740,244 (GRCm39)	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,390,387 (GRCm39)		probably null	Het
Atm	A	C	9: 53,355,300 (GRCm39)	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Chd2	T	C	7: 73,113,419 (GRCm39)	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,019,805 (GRCm39)	L544P	probably damaging	Het
Cryga	A	C	1: 65,142,169 (GRCm39)	S75A	probably benign	Het
Dcbld1	T	A	10: 52,195,576 (GRCm39)	Y261*	probably null	Het
Ddx11	G	A	17: 66,457,724 (GRCm39)		probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dst	A	C	1: 34,267,753 (GRCm39)	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Eif4enif1	T	A	11: 3,177,793 (GRCm39)	V395E	probably damaging	Het
Enox1	A	G	14: 77,815,204 (GRCm39)	T121A	probably damaging	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,355,631 (GRCm39)	G448E	probably damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Garnl3	T	C	2: 32,994,892 (GRCm39)	D39G	probably benign	Het
Gm14295	C	T	2: 176,500,782 (GRCm39)	Q91*	probably null	Het
Grb10	T	A	11: 11,920,639 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Herc2	T	A	7: 55,802,914 (GRCm39)	C2112*	probably null	Het
Herc2	T	G	7: 55,854,466 (GRCm39)	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,976,083 (GRCm39)	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lingo4	G	A	3: 94,310,697 (GRCm39)	G545E	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Loricrin	C	A	3: 91,989,119 (GRCm39)	G56*	probably null	Het
Lrfn1	A	G	7: 28,159,169 (GRCm39)	R363G	probably benign	Het
Lrp1b	T	C	2: 40,547,537 (GRCm39)	D446G	probably benign	Het
Ltbp1	G	T	17: 75,312,984 (GRCm39)	G35V	possibly damaging	Het
Magel2	G	A	7: 62,028,427 (GRCm39)	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Ms4a7	A	T	19: 11,310,659 (GRCm39)	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,750,062 (GRCm39)	Y173C	probably damaging	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 152,952,717 (GRCm39)	H102L	probably damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or52x1	G	A	7: 104,852,599 (GRCm39)	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pcnt	A	G	10: 76,221,632 (GRCm39)	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Prdm14	A	T	1: 13,189,160 (GRCm39)	C395S	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Pter	T	C	2: 12,983,352 (GRCm39)	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rorb	C	A	19: 18,955,221 (GRCm39)	V47L	possibly damaging	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162 (GRCm39)	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Slc52a3	G	T	2: 151,849,529 (GRCm39)		probably null	Het
Smco1	A	T	16: 32,092,832 (GRCm39)	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Tmem225	T	A	9: 40,059,731 (GRCm39)	I37N	probably damaging	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Usp16	A	G	16: 87,280,079 (GRCm39)	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,084,221 (GRCm39)	*308C	probably null	Het
Vmn2r45	A	G	7: 8,475,207 (GRCm39)	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,578,059 (GRCm39)		probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	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
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
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'- ATTGTCTCTGCCCTGGAAGTC -3'
(R):5'- TCCATCTACCTAGGACAATGTGTG -3'

Sequencing Primer
(F):5'- GGAAGTCTTCAGCTTCAGCC -3'
(R):5'- CTTATGAAGTGATACGCTTCCAGGC -3'

Posted On

2018-03-15