Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Pitpnm2'

564327

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm2

Ensembl Gene

ENSMUSG00000029406

Gene Name

phosphatidylinositol transfer protein, membrane-associated 2

Synonyms

NIR3, RDGBA2, Rdgb2

MMRRC Submission

045318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124118690-124249760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124125356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 824 (I824F)

Ref Sequence

ENSEMBL: ENSMUSP00000124111 (fasta)

Gene Model

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

AlphaFold

Q6ZPQ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086123
AA Change: I824F

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: I824F

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

probably benign
Transcript: ENSMUST00000161273
AA Change: I874F

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: I874F

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

possibly damaging
Transcript: ENSMUST00000161938
AA Change: I824F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: I824F

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

possibly damaging
Transcript: ENSMUST00000162812
AA Change: I824F

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: I824F

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

0.1011

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,839,452 (GRCm38)	V120E	probably benign	Het
Acot11	G	A	4: 106,758,402 (GRCm38)	T284M	probably damaging	Het
Adk	G	T	14: 21,052,671 (GRCm38)	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,088,966 (GRCm38)	N316K	probably benign	Het
AL732309.1	A	T	2: 25,245,839 (GRCm38)	V121D	probably benign	Het
Amh	C	A	10: 80,806,653 (GRCm38)	Q257K	probably benign	Het
Antxrl	T	G	14: 34,065,849 (GRCm38)	H276Q	probably benign	Het
Atp5o	G	A	16: 91,926,867 (GRCm38)	T105M	probably damaging	Het
Atp5s	T	C	12: 69,741,669 (GRCm38)	I114T	probably damaging	Het
Atxn2	T	G	5: 121,785,817 (GRCm38)	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,925,738 (GRCm38)	V153D	probably benign	Het
Brd2	A	G	17: 34,113,822 (GRCm38)	V528A	probably damaging	Het
Camk2g	T	C	14: 20,747,839 (GRCm38)	S335G	probably benign	Het
Cbln2	T	A	18: 86,716,734 (GRCm38)	W211R	probably damaging	Het
Cry2	A	T	2: 92,412,981 (GRCm38)	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,560,721 (GRCm38)	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,842,738 (GRCm38)	T232A	probably damaging	Het
Dhx32	A	G	7: 133,759,477 (GRCm38)	Y76H	probably benign	Het
Dock7	T	A	4: 98,973,412 (GRCm38)	N1356I	unknown	Het
Dock8	T	A	19: 25,127,085 (GRCm38)	N710K	probably benign	Het
Dync1i2	T	A	2: 71,249,356 (GRCm38)	N391K	possibly damaging	Het
Ect2	A	G	3: 27,138,535 (GRCm38)	S420P	probably damaging	Het
Efcab5	T	A	11: 77,137,779 (GRCm38)	E242V	probably damaging	Het
Fam83g	T	A	11: 61,684,753 (GRCm38)	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,500,872 (GRCm38)		probably null	Het
Flt4	A	G	11: 49,626,009 (GRCm38)	T208A	probably benign	Het
Fxyd5	T	A	7: 31,035,151 (GRCm38)	H183L	unknown	Het
Gpr150	T	G	13: 76,056,466 (GRCm38)	D120A	probably benign	Het
Grm7	A	G	6: 110,646,118 (GRCm38)	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,266,405 (GRCm38)	S562P	probably damaging	Het
Itga7	A	G	10: 128,944,413 (GRCm38)	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,118,561 (GRCm38)	D2448E	probably benign	Het
Mmp17	C	A	5: 129,595,633 (GRCm38)	H216Q	probably benign	Het
Mns1	C	T	9: 72,452,815 (GRCm38)	R416W	probably damaging	Het
Mog	A	G	17: 37,023,127 (GRCm38)	S25P	unknown	Het
Myh2	A	G	11: 67,181,150 (GRCm38)	K568R	possibly damaging	Het
Myh7	A	T	14: 54,972,490 (GRCm38)		probably null	Het
Mymk	A	T	2: 27,067,368 (GRCm38)	W79R	probably damaging	Het
Ncoa4	T	G	14: 32,177,369 (GRCm38)	L623R	probably damaging	Het
Oca2	G	A	7: 56,279,538 (GRCm38)		probably benign	Het
Odam	A	C	5: 87,887,545 (GRCm38)	S123R	probably benign	Het
Olfr1155	A	G	2: 87,943,571 (GRCm38)	F19S	probably damaging	Het
Olfr263	A	G	13: 21,133,257 (GRCm38)	T161A	probably benign	Het
Olfr292	T	A	7: 86,694,804 (GRCm38)	M116K	probably damaging	Het
Olfr583	T	C	7: 103,051,630 (GRCm38)	F111L	probably benign	Het
Olfr765	C	T	10: 129,046,455 (GRCm38)	V203M	probably benign	Het
Olfr816	T	A	10: 129,912,287 (GRCm38)		probably benign	Het
Ovch2	C	T	7: 107,794,433 (GRCm38)	C162Y	probably damaging	Het
Padi1	C	A	4: 140,829,471 (GRCm38)	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,687,398 (GRCm38)	I667V	probably damaging	Het
Pfas	A	T	11: 68,992,959 (GRCm38)	V624E	probably damaging	Het
Phb	A	T	11: 95,678,091 (GRCm38)	E184V	probably damaging	Het
Phlpp2	G	T	8: 109,940,188 (GRCm38)	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,580,431 (GRCm38)		probably null	Het
Pla2g4c	G	A	7: 13,325,744 (GRCm38)	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,427,625 (GRCm38)		probably null	Het
Pole2	T	C	12: 69,202,910 (GRCm38)	D521G	probably damaging	Het
Ptch1	T	C	13: 63,573,294 (GRCm38)	K54E	not run	Het
Rapgef2	A	T	3: 79,082,627 (GRCm38)	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,413,019 (GRCm38)	Q206*	probably null	Het
Rnf123	T	A	9: 108,069,029 (GRCm38)	T316S	probably damaging	Het
Rnf138	T	A	18: 21,008,693 (GRCm38)		probably null	Het
Sept3	G	A	15: 82,289,213 (GRCm38)	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,679,616 (GRCm38)	D3V	unknown	Het
Sltm	T	A	9: 70,543,965 (GRCm38)		probably null	Het
Smarca2	C	T	19: 26,654,464 (GRCm38)	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,164,531 (GRCm38)	D91V	probably damaging	Het
Tirap	A	T	9: 35,189,034 (GRCm38)	V118E	probably damaging	Het
Tlr5	T	A	1: 182,974,233 (GRCm38)	Y367*	probably null	Het
Tmcc1	A	G	6: 116,107,338 (GRCm38)	F5L	probably benign	Het
Tnxb	A	G	17: 34,716,501 (GRCm38)	M2592V	probably benign	Het
Trim66	T	A	7: 109,460,244 (GRCm38)	E931V	probably damaging	Het
Ttn	A	G	2: 76,741,094 (GRCm38)	I26485T	probably damaging	Het
Veph1	C	A	3: 66,158,282 (GRCm38)	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,272,825 (GRCm38)	H216L	probably damaging	Het
Wdr17	T	A	8: 54,632,487 (GRCm38)	E1200D	probably benign	Het
Zbtb37	T	A	1: 161,032,661 (GRCm38)	N25Y	probably damaging	Het

Other mutations in Pitpnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pitpnm2	APN	5	124,121,663 (GRCm38)	unclassified	probably benign
IGL01660:Pitpnm2	APN	5	124,123,194 (GRCm38)	missense	probably damaging	1.00
IGL02328:Pitpnm2	APN	5	124,121,414 (GRCm38)	missense	probably damaging	0.99
IGL02340:Pitpnm2	APN	5	124,130,613 (GRCm38)	missense	probably damaging	1.00
IGL02399:Pitpnm2	APN	5	124,140,758 (GRCm38)	splice site	probably benign
IGL02719:Pitpnm2	APN	5	124,140,602 (GRCm38)	missense	probably damaging	1.00
IGL03053:Pitpnm2	APN	5	124,143,601 (GRCm38)	missense	probably damaging	1.00
IGL03083:Pitpnm2	APN	5	124,133,382 (GRCm38)	missense	possibly damaging	0.92
PIT4131001:Pitpnm2	UTSW	5	124,131,115 (GRCm38)	missense	probably benign	0.01
R0058:Pitpnm2	UTSW	5	124,124,030 (GRCm38)	missense	probably damaging	1.00
R0437:Pitpnm2	UTSW	5	124,131,089 (GRCm38)	splice site	probably benign
R0530:Pitpnm2	UTSW	5	124,131,201 (GRCm38)	missense	probably damaging	1.00
R0568:Pitpnm2	UTSW	5	124,140,517 (GRCm38)	splice site	probably benign
R0926:Pitpnm2	UTSW	5	124,131,209 (GRCm38)	missense	probably benign	0.10
R1625:Pitpnm2	UTSW	5	124,133,433 (GRCm38)	missense	probably benign	0.05
R2008:Pitpnm2	UTSW	5	124,152,621 (GRCm38)	start codon destroyed	probably damaging	0.99
R2120:Pitpnm2	UTSW	5	124,127,269 (GRCm38)	missense	probably damaging	1.00
R2354:Pitpnm2	UTSW	5	124,122,919 (GRCm38)	missense	probably damaging	0.99
R2448:Pitpnm2	UTSW	5	124,123,994 (GRCm38)	missense	probably damaging	1.00
R2509:Pitpnm2	UTSW	5	124,136,326 (GRCm38)	missense	probably damaging	0.99
R2510:Pitpnm2	UTSW	5	124,136,326 (GRCm38)	missense	probably damaging	0.99
R2511:Pitpnm2	UTSW	5	124,136,326 (GRCm38)	missense	probably damaging	0.99
R2520:Pitpnm2	UTSW	5	124,129,401 (GRCm38)	missense	probably damaging	0.96
R2860:Pitpnm2	UTSW	5	124,121,437 (GRCm38)	missense	probably damaging	1.00
R2861:Pitpnm2	UTSW	5	124,121,437 (GRCm38)	missense	probably damaging	1.00
R4407:Pitpnm2	UTSW	5	124,152,615 (GRCm38)	missense	possibly damaging	0.57
R4417:Pitpnm2	UTSW	5	124,123,569 (GRCm38)	missense	probably damaging	1.00
R4426:Pitpnm2	UTSW	5	124,142,123 (GRCm38)	missense	probably benign	0.32
R4458:Pitpnm2	UTSW	5	124,121,376 (GRCm38)	missense	probably benign	0.00
R4610:Pitpnm2	UTSW	5	124,125,371 (GRCm38)	missense	probably damaging	0.99
R4786:Pitpnm2	UTSW	5	124,121,743 (GRCm38)	nonsense	probably null
R4903:Pitpnm2	UTSW	5	124,152,605 (GRCm38)	missense	probably damaging	1.00
R5151:Pitpnm2	UTSW	5	124,136,386 (GRCm38)	missense	probably damaging	1.00
R5315:Pitpnm2	UTSW	5	124,121,933 (GRCm38)	missense	probably benign	0.18
R5592:Pitpnm2	UTSW	5	124,142,149 (GRCm38)	missense	probably damaging	1.00
R5792:Pitpnm2	UTSW	5	124,130,321 (GRCm38)	nonsense	probably null
R6846:Pitpnm2	UTSW	5	124,131,171 (GRCm38)	missense	probably benign	0.00
R6983:Pitpnm2	UTSW	5	124,133,406 (GRCm38)	missense	probably damaging	1.00
R7096:Pitpnm2	UTSW	5	124,129,261 (GRCm38)	missense	possibly damaging	0.69
R7188:Pitpnm2	UTSW	5	124,121,303 (GRCm38)	missense	probably benign	0.31
R7203:Pitpnm2	UTSW	5	124,121,459 (GRCm38)	missense	probably damaging	0.96
R7237:Pitpnm2	UTSW	5	124,125,297 (GRCm38)	critical splice donor site	probably null
R7622:Pitpnm2	UTSW	5	124,122,027 (GRCm38)	missense	probably benign	0.39
R7677:Pitpnm2	UTSW	5	124,123,569 (GRCm38)	missense	probably damaging	1.00
R7736:Pitpnm2	UTSW	5	124,123,030 (GRCm38)	missense	possibly damaging	0.47
R7745:Pitpnm2	UTSW	5	124,128,705 (GRCm38)	missense	probably benign	0.19
R8041:Pitpnm2	UTSW	5	124,121,456 (GRCm38)	missense	probably damaging	1.00
R9070:Pitpnm2	UTSW	5	124,121,312 (GRCm38)	missense	probably damaging	1.00
R9218:Pitpnm2	UTSW	5	124,127,281 (GRCm38)	missense	probably damaging	0.97
R9423:Pitpnm2	UTSW	5	124,133,406 (GRCm38)	missense	probably benign	0.05
R9438:Pitpnm2	UTSW	5	124,131,279 (GRCm38)	missense	probably damaging	0.99
R9439:Pitpnm2	UTSW	5	124,140,596 (GRCm38)	missense	probably damaging	1.00
R9439:Pitpnm2	UTSW	5	124,136,126 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACAGCAGTCCCAGACTTGAC -3'
(R):5'- CCTAAACCAGCTGTACCCTG -3'

Sequencing Primer
(F):5'- AGACTTGACCCAGCTGCTC -3'
(R):5'- AGCTGTACCCTGGTGCAC -3'

Posted On

2019-06-26