Mutagenetix > Incidental Mutation

Incidental Mutation 'R2120:Pitpnm2'

231363

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm2

Ensembl Gene

ENSMUSG00000029406

Gene Name

phosphatidylinositol transfer protein, membrane-associated 2

Synonyms

RDGBA2, NIR3, Rdgb2

MMRRC Submission

040124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124256753-124387823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124265332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 757 (P757L)

Ref Sequence

ENSEMBL: ENSMUSP00000124292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086123] [ENSMUST00000161273] [ENSMUST00000161938] [ENSMUST00000162812]

AlphaFold

Q6ZPQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000086123
AA Change: P757L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: P757L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	6.1e-132	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
low complexity region	507	515	N/A	INTRINSIC
Blast:DDHD	548	570	6e-7	BLAST
low complexity region	571	589	N/A	INTRINSIC
low complexity region	608	630	N/A	INTRINSIC
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	895	1.66e-98	SMART
LNS2	1040	1171	3.22e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159628

Predicted Effect

probably damaging
Transcript: ENSMUST00000161273
AA Change: P757L

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

SMART Domains

Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: P757L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	3.2e-129	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
Blast:DDHD	422	670	2e-65	BLAST
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	945	7.5e-100	SMART
LNS2	1090	1221	3.1e-59	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161938
AA Change: P757L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: P757L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	251	7.5e-116	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
Blast:DDHD	422	670	2e-65	BLAST
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	949	8.37e-104	SMART
LNS2	1094	1225	3.22e-55	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162812
AA Change: P757L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: P757L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	6.1e-132	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
low complexity region	507	515	N/A	INTRINSIC
Blast:DDHD	548	570	6e-7	BLAST
low complexity region	571	589	N/A	INTRINSIC
low complexity region	608	630	N/A	INTRINSIC
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	895	1.66e-98	SMART
LNS2	1040	1171	3.22e-55	SMART

Meta Mutation Damage Score

0.9666

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM2 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: Homozygous null mice are viable, fertile, and show no defects pertaining to photoreceptor function or survival. [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
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actrt2	C	T	4: 154,751,551 (GRCm39)	R195Q	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ankrd65	A	G	4: 155,876,530 (GRCm39)	T239A	probably benign	Het
Ano7	G	T	1: 93,329,855 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,409,654 (GRCm39)	E198V	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Atp9a	A	T	2: 168,495,457 (GRCm39)	V583E	probably damaging	Het
Bicral	C	T	17: 47,135,741 (GRCm39)	A490T	probably benign	Het
C1rl	C	T	6: 124,485,672 (GRCm39)	P348S	probably damaging	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Cx3cr1	T	A	9: 119,880,749 (GRCm39)	T218S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
E2f4	A	G	8: 106,026,973 (GRCm39)	Y179C	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Endod1	T	C	9: 14,268,949 (GRCm39)	N179D	probably benign	Het
Epc2	C	T	2: 49,437,621 (GRCm39)		probably benign	Het
Ets2	G	T	16: 95,519,977 (GRCm39)	R401L	probably benign	Het
Fgd4	C	T	16: 16,243,692 (GRCm39)	C614Y	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Frem3	A	T	8: 81,342,086 (GRCm39)	T1460S	probably benign	Het
H2-M1	T	G	17: 36,980,929 (GRCm39)	T336P	possibly damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ipo7	G	T	7: 109,648,838 (GRCm39)	D704Y	probably damaging	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Jarid2	G	T	13: 45,059,812 (GRCm39)	M681I	probably benign	Het
Kif4-ps	T	C	12: 101,113,956 (GRCm39)	L695P	probably damaging	Het
Kmt2d	A	G	15: 98,737,410 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,023 (GRCm39)	T205A	probably benign	Het
Lif	T	C	11: 4,219,051 (GRCm39)	V110A	possibly damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Man2b1	A	G	8: 85,819,653 (GRCm39)		probably benign	Het
Med16	A	T	10: 79,738,916 (GRCm39)	M290K	possibly damaging	Het
Mov10l1	C	A	15: 88,891,830 (GRCm39)	Q562K	probably benign	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Mtmr6	T	C	14: 60,534,108 (GRCm39)	F449L	probably damaging	Het
Myt1l	A	T	12: 29,833,618 (GRCm39)		probably null	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or11g27	T	C	14: 50,771,403 (GRCm39)	I178T	probably damaging	Het
Or4k36	A	G	2: 111,145,844 (GRCm39)	T7A	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or8k22	G	A	2: 86,163,689 (GRCm39)	R4C	probably benign	Het
Patj	T	A	4: 98,344,462 (GRCm39)	D591E	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Plcd4	A	G	1: 74,603,584 (GRCm39)	T662A	probably benign	Het
Podn	C	T	4: 107,880,558 (GRCm39)	A31T	probably damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rab3gap2	A	T	1: 184,993,564 (GRCm39)	D782V	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	G	A	5: 22,174,083 (GRCm39)	H2007Y	probably damaging	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Rimbp2	A	G	5: 128,865,582 (GRCm39)	S582P	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sars1	T	C	3: 108,341,472 (GRCm39)	I114V	probably benign	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sec14l1	C	T	11: 117,039,358 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,617 (GRCm39)	E224G	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Srgn	T	A	10: 62,343,413 (GRCm39)		probably benign	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tada3	T	C	6: 113,347,976 (GRCm39)	I263V	possibly damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r115	T	A	6: 132,714,470 (GRCm39)	R160S	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Trp53bp2	A	G	1: 182,269,204 (GRCm39)	M223V	probably benign	Het
Ttc21b	C	T	2: 66,057,098 (GRCm39)	V625I	probably benign	Het
Txnrd1	T	A	10: 82,723,067 (GRCm39)	C421S	possibly damaging	Het
Unc45a	T	C	7: 79,989,846 (GRCm39)	T8A	probably benign	Het
Usp6nl	T	A	2: 6,445,748 (GRCm39)	V552E	probably damaging	Het
Vmn2r115	T	G	17: 23,578,297 (GRCm39)	L590R	probably damaging	Het
Vmn2r88	A	T	14: 51,650,665 (GRCm39)	H126L	probably benign	Het
Vps13c	A	G	9: 67,826,616 (GRCm39)	D1419G	possibly damaging	Het
Vwa3a	A	G	7: 120,391,641 (GRCm39)	T776A	probably benign	Het
Zfp580	T	C	7: 5,056,008 (GRCm39)	Y123H	probably damaging	Het

Other mutations in Pitpnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pitpnm2	APN	5	124,259,726 (GRCm39)	unclassified	probably benign
IGL01660:Pitpnm2	APN	5	124,261,257 (GRCm39)	missense	probably damaging	1.00
IGL02328:Pitpnm2	APN	5	124,259,477 (GRCm39)	missense	probably damaging	0.99
IGL02340:Pitpnm2	APN	5	124,268,676 (GRCm39)	missense	probably damaging	1.00
IGL02399:Pitpnm2	APN	5	124,278,821 (GRCm39)	splice site	probably benign
IGL02719:Pitpnm2	APN	5	124,278,665 (GRCm39)	missense	probably damaging	1.00
IGL03053:Pitpnm2	APN	5	124,281,664 (GRCm39)	missense	probably damaging	1.00
IGL03083:Pitpnm2	APN	5	124,271,445 (GRCm39)	missense	possibly damaging	0.92
PIT4131001:Pitpnm2	UTSW	5	124,269,178 (GRCm39)	missense	probably benign	0.01
R0058:Pitpnm2	UTSW	5	124,262,093 (GRCm39)	missense	probably damaging	1.00
R0437:Pitpnm2	UTSW	5	124,269,152 (GRCm39)	splice site	probably benign
R0530:Pitpnm2	UTSW	5	124,269,264 (GRCm39)	missense	probably damaging	1.00
R0568:Pitpnm2	UTSW	5	124,278,580 (GRCm39)	splice site	probably benign
R0926:Pitpnm2	UTSW	5	124,269,272 (GRCm39)	missense	probably benign	0.10
R1625:Pitpnm2	UTSW	5	124,271,496 (GRCm39)	missense	probably benign	0.05
R2008:Pitpnm2	UTSW	5	124,290,684 (GRCm39)	start codon destroyed	probably damaging	0.99
R2354:Pitpnm2	UTSW	5	124,260,982 (GRCm39)	missense	probably damaging	0.99
R2448:Pitpnm2	UTSW	5	124,262,057 (GRCm39)	missense	probably damaging	1.00
R2509:Pitpnm2	UTSW	5	124,274,389 (GRCm39)	missense	probably damaging	0.99
R2510:Pitpnm2	UTSW	5	124,274,389 (GRCm39)	missense	probably damaging	0.99
R2511:Pitpnm2	UTSW	5	124,274,389 (GRCm39)	missense	probably damaging	0.99
R2520:Pitpnm2	UTSW	5	124,267,464 (GRCm39)	missense	probably damaging	0.96
R2860:Pitpnm2	UTSW	5	124,259,500 (GRCm39)	missense	probably damaging	1.00
R2861:Pitpnm2	UTSW	5	124,259,500 (GRCm39)	missense	probably damaging	1.00
R4407:Pitpnm2	UTSW	5	124,290,678 (GRCm39)	missense	possibly damaging	0.57
R4417:Pitpnm2	UTSW	5	124,261,632 (GRCm39)	missense	probably damaging	1.00
R4426:Pitpnm2	UTSW	5	124,280,186 (GRCm39)	missense	probably benign	0.32
R4458:Pitpnm2	UTSW	5	124,259,439 (GRCm39)	missense	probably benign	0.00
R4610:Pitpnm2	UTSW	5	124,263,434 (GRCm39)	missense	probably damaging	0.99
R4786:Pitpnm2	UTSW	5	124,259,806 (GRCm39)	nonsense	probably null
R4903:Pitpnm2	UTSW	5	124,290,668 (GRCm39)	missense	probably damaging	1.00
R5151:Pitpnm2	UTSW	5	124,274,449 (GRCm39)	missense	probably damaging	1.00
R5315:Pitpnm2	UTSW	5	124,259,996 (GRCm39)	missense	probably benign	0.18
R5592:Pitpnm2	UTSW	5	124,280,212 (GRCm39)	missense	probably damaging	1.00
R5792:Pitpnm2	UTSW	5	124,268,384 (GRCm39)	nonsense	probably null
R6846:Pitpnm2	UTSW	5	124,269,234 (GRCm39)	missense	probably benign	0.00
R6983:Pitpnm2	UTSW	5	124,271,469 (GRCm39)	missense	probably damaging	1.00
R7096:Pitpnm2	UTSW	5	124,267,324 (GRCm39)	missense	possibly damaging	0.69
R7188:Pitpnm2	UTSW	5	124,259,366 (GRCm39)	missense	probably benign	0.31
R7203:Pitpnm2	UTSW	5	124,259,522 (GRCm39)	missense	probably damaging	0.96
R7237:Pitpnm2	UTSW	5	124,263,360 (GRCm39)	critical splice donor site	probably null
R7257:Pitpnm2	UTSW	5	124,263,419 (GRCm39)	missense	possibly damaging	0.88
R7622:Pitpnm2	UTSW	5	124,260,090 (GRCm39)	missense	probably benign	0.39
R7677:Pitpnm2	UTSW	5	124,261,632 (GRCm39)	missense	probably damaging	1.00
R7736:Pitpnm2	UTSW	5	124,261,093 (GRCm39)	missense	possibly damaging	0.47
R7745:Pitpnm2	UTSW	5	124,266,768 (GRCm39)	missense	probably benign	0.19
R8041:Pitpnm2	UTSW	5	124,259,519 (GRCm39)	missense	probably damaging	1.00
R9070:Pitpnm2	UTSW	5	124,259,375 (GRCm39)	missense	probably damaging	1.00
R9218:Pitpnm2	UTSW	5	124,265,344 (GRCm39)	missense	probably damaging	0.97
R9423:Pitpnm2	UTSW	5	124,271,469 (GRCm39)	missense	probably benign	0.05
R9438:Pitpnm2	UTSW	5	124,269,342 (GRCm39)	missense	probably damaging	0.99
R9439:Pitpnm2	UTSW	5	124,278,659 (GRCm39)	missense	probably damaging	1.00
R9439:Pitpnm2	UTSW	5	124,274,189 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCAGAGACCCACTGTATG -3'
(R):5'- GGTGTTCCTACCTGTGTGAC -3'

Sequencing Primer
(F):5'- CTGTATGTCAGGGGCTATATAGC -3'
(R):5'- AGGCTACATAGTGAGACCCCG -3'

Posted On

2014-09-18