Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Pitpnm1'

372859

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm1

Ensembl Gene

ENSMUSG00000024851

Gene Name

phosphatidylinositol transfer protein, membrane-associated 1

Synonyms

RdgB, DRES9

MMRRC Submission

042447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4150012-4163966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4158130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 573 (D573E)

Ref Sequence

ENSEMBL: ENSMUSP00000097599 (fasta)

Gene Model

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

AlphaFold

O35954

Predicted Effect

probably damaging
Transcript: ENSMUST00000049658
AA Change: D573E

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

SMART Domains

Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: D573E

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: D573E

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

SMART Domains

Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: D573E

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

noncoding transcript
Transcript: ENSMUST00000125596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128798

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139427

Meta Mutation Damage Score

0.3602

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,791,403 (GRCm39)	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,744,183 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,492,077 (GRCm39)	K4373*	probably null	Het
Abtb2	A	T	2: 103,513,820 (GRCm39)	T410S	probably benign	Het
Adamts13	T	C	2: 26,873,142 (GRCm39)		probably null	Het
Ahnak2	C	G	12: 112,742,183 (GRCm39)	D630H	probably damaging	Het
Aox3	T	C	1: 58,191,725 (GRCm39)	S426P	probably damaging	Het
Atxn10	C	T	15: 85,271,260 (GRCm39)	S266F	probably benign	Het
B4galnt4	G	T	7: 140,647,634 (GRCm39)	M407I	probably damaging	Het
B4galnt4	T	A	7: 140,644,470 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,197,872 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,955,864 (GRCm39)		probably null	Het
Cdc42bpg	T	C	19: 6,361,365 (GRCm39)	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,664 (GRCm39)	T755S	probably benign	Het
Ceacam12	T	A	7: 17,811,305 (GRCm39)		probably null	Het
Cfap65	C	A	1: 74,956,454 (GRCm39)	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,875,844 (GRCm39)	I89V	probably benign	Het
Cfh	T	C	1: 140,014,125 (GRCm39)	D688G	probably benign	Het
Clip1	C	G	5: 123,721,664 (GRCm39)	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,614,921 (GRCm39)	Y309*	probably null	Het
Dcaf5	T	C	12: 80,385,858 (GRCm39)	E756G	probably benign	Het
Dctn1	A	T	6: 83,176,753 (GRCm39)	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,373,428 (GRCm39)	R682*	probably null	Het
Eml6	C	A	11: 29,727,052 (GRCm39)	E1319*	probably null	Het
Erap1	T	C	13: 74,838,766 (GRCm39)	I904T	probably damaging	Het
Eri1	A	T	8: 35,943,673 (GRCm39)	I207N	possibly damaging	Het
Farp1	G	A	14: 121,514,469 (GRCm39)	A933T	probably damaging	Het
Fcna	T	A	2: 25,515,353 (GRCm39)	Q210L	probably benign	Het
Fhad1	A	T	4: 141,643,378 (GRCm39)		probably null	Het
Fut8	T	G	12: 77,440,603 (GRCm39)	Y197D	probably damaging	Het
Garem1	G	A	18: 21,262,825 (GRCm39)	T663I	probably benign	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Gstk1	T	G	6: 42,222,938 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,879,210 (GRCm39)	A803T	probably damaging	Het
Igsf9	T	A	1: 172,319,455 (GRCm39)	I280N	probably damaging	Het
Klhl10	A	G	11: 100,336,669 (GRCm39)	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,768,558 (GRCm39)	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,546,453 (GRCm39)	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,840,414 (GRCm39)	E1051K	possibly damaging	Het
Mettl17	T	C	14: 52,122,440 (GRCm39)	F13S	probably benign	Het
Mettl24	C	A	10: 40,559,413 (GRCm39)	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,331 (GRCm39)	C61S	probably benign	Het
Mob4	T	G	1: 55,191,899 (GRCm39)	D204E	probably benign	Het
Mtus1	C	G	8: 41,536,189 (GRCm39)	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,149,844 (GRCm39)	F484I	possibly damaging	Het
Nsrp1	T	C	11: 76,941,444 (GRCm39)	N88S	probably benign	Het
Odad2	G	T	18: 7,222,564 (GRCm39)	H568Q	possibly damaging	Het
Or10d5	C	T	9: 39,861,408 (GRCm39)	V220I	probably benign	Het
Or2g25	T	A	17: 37,970,969 (GRCm39)	H85L	probably benign	Het
Or51b6b	T	C	7: 103,309,678 (GRCm39)	T260A	probably benign	Het
Or6c2	T	A	10: 129,362,449 (GRCm39)	Y118N	probably damaging	Het
Parg	A	G	14: 31,924,408 (GRCm39)	N69S	probably benign	Het
Pcdh9	A	C	14: 94,125,377 (GRCm39)	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,653,615 (GRCm39)	L694F	probably damaging	Het
Pcnt	T	C	10: 76,248,335 (GRCm39)	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,775,751 (GRCm39)	G373D	probably benign	Het
Pea15a	A	G	1: 172,026,740 (GRCm39)	I89T	probably damaging	Het
Phc1	T	A	6: 122,313,964 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,235,900 (GRCm39)	C191S	probably damaging	Het
Pld5	A	G	1: 176,102,450 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,173,130 (GRCm39)	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293 (GRCm39)	N315K	probably damaging	Het
Pnpla1	T	A	17: 29,097,518 (GRCm39)	M228K	probably benign	Het
Prim2	T	C	1: 33,709,217 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,246,987 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,050,294 (GRCm39)	H719N	probably benign	Het
Ror2	C	T	13: 53,272,880 (GRCm39)	D250N	probably damaging	Het
Saal1	A	G	7: 46,349,071 (GRCm39)	V281A	probably benign	Het
Selenof	A	T	3: 144,296,411 (GRCm39)	K94N	probably damaging	Het
Slamf9	T	A	1: 172,304,831 (GRCm39)	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699 (GRCm38)		probably null	Het
Slco1a5	A	G	6: 142,180,431 (GRCm39)	I657T	probably benign	Het
St3gal2	A	T	8: 111,684,480 (GRCm39)	H46L	probably benign	Het
Sucnr1	T	G	3: 59,994,069 (GRCm39)	M199R	probably damaging	Het
Taok1	T	A	11: 77,444,500 (GRCm39)	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,235,445 (GRCm39)	E298V	probably damaging	Het
Tll2	T	A	19: 41,118,951 (GRCm39)	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,691,554 (GRCm39)	F300Y	probably damaging	Het
Uba6	T	A	5: 86,279,197 (GRCm39)	I642L	probably benign	Het
Ubqln5	T	A	7: 103,778,829 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,827 (GRCm39)	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,741,672 (GRCm39)	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,761,494 (GRCm39)	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,720,352 (GRCm39)	D380N	probably benign	Het
Vps13a	C	T	19: 16,655,356 (GRCm39)	V1891I	probably benign	Het
Wbp2	G	T	11: 115,971,463 (GRCm39)	Y147*	probably null	Het
Wdr46	T	A	17: 34,160,810 (GRCm39)	N191K	probably benign	Het
Wdr46	T	C	17: 34,168,373 (GRCm39)		probably benign	Het
Wnt2	A	C	6: 18,023,285 (GRCm39)	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,003,053 (GRCm39)	D100V	probably benign	Het
Xpo4	T	C	14: 57,827,559 (GRCm39)	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,938,948 (GRCm39)	V978D	probably 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
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'- CATGATGGGGATAGCCTGTC -3'
(R):5'- AGACTCAACTTTGCAGCGGG -3'

Sequencing Primer
(F):5'- TCATCGGAGGGCACAGGTTTC -3'
(R):5'- AGAGAGGCCATATTCCAG -3'

Posted On

2016-03-01