Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01818:Pitpnm3'

154451

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pitpnm3

Ensembl Gene

ENSMUSG00000040543

Gene Name

PITPNM family member 3

Synonyms

A330068P14Rik, Ackr6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01818

Quality Score

Status

Chromosome

Chromosomal Location

71938354-72026604 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 72003077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075258] [ENSMUST00000108508]

AlphaFold

Q3UHE1

Predicted Effect

probably benign
Transcript: ENSMUST00000075258

SMART Domains

Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
low complexity region	25	37	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Blast:DDHD	141	361	1e-105	BLAST
DDHD	390	594	1.49e-91	SMART
LNS2	739	870	2.12e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108508

SMART Domains

Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
low complexity region	25	37	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC
Blast:DDHD	125	345	1e-106	BLAST
DDHD	374	578	1.49e-91	SMART
LNS2	723	854	2.12e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142471

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 106,294,018 (GRCm39)	D35G	probably benign	Het
C3ar1	T	C	6: 122,827,378 (GRCm39)	N280D	probably benign	Het
Ccpg1	A	G	9: 72,904,735 (GRCm39)	T15A	probably damaging	Het
Chmp7	A	G	14: 69,956,616 (GRCm39)	V361A	probably damaging	Het
Dnmbp	T	A	19: 43,889,604 (GRCm39)	K721M	probably damaging	Het
Elmod3	T	C	6: 72,563,490 (GRCm39)	E46G	possibly damaging	Het
Gm4922	T	C	10: 18,660,701 (GRCm39)	D7G	unknown	Het
H2-T24	C	A	17: 36,328,128 (GRCm39)		probably benign	Het
Hal	A	T	10: 93,326,846 (GRCm39)	T161S	probably damaging	Het
Htr1d	A	G	4: 136,170,197 (GRCm39)	E142G	probably benign	Het
Minar1	T	C	9: 89,483,366 (GRCm39)	E677G	probably damaging	Het
Mrps31	T	C	8: 22,901,483 (GRCm39)	M1T	probably null	Het
Nckap1l	T	C	15: 103,386,709 (GRCm39)	L628P	probably damaging	Het
Oosp2	T	C	19: 11,627,053 (GRCm39)	N90S	probably benign	Het
Ppox	A	T	1: 171,108,318 (GRCm39)	I6K	probably benign	Het
Skint6	G	T	4: 112,805,766 (GRCm39)	Q690K	probably benign	Het
Stat1	T	C	1: 52,190,437 (GRCm39)	I564T	probably damaging	Het
Tiam1	T	A	16: 89,664,592 (GRCm39)	I539F	probably damaging	Het
Tmem191	A	G	16: 17,095,594 (GRCm39)	R35G	possibly damaging	Het
Trim30d	A	T	7: 104,121,267 (GRCm39)	C343S	probably damaging	Het
Trpm3	T	C	19: 22,891,838 (GRCm39)	L736S	probably damaging	Het
Vmn2r73	T	A	7: 85,519,109 (GRCm39)		probably benign	Het

Other mutations in Pitpnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Pitpnm3	APN	11	71,946,964 (GRCm39)	missense	probably damaging	0.99
IGL02058:Pitpnm3	APN	11	72,010,965 (GRCm39)	missense	probably benign	0.31
IGL02267:Pitpnm3	APN	11	71,962,274 (GRCm39)	missense	probably benign	0.02
IGL02370:Pitpnm3	APN	11	71,942,684 (GRCm39)	missense	probably benign	0.04
IGL02613:Pitpnm3	APN	11	71,948,898 (GRCm39)	missense	probably damaging	1.00
IGL02835:Pitpnm3	APN	11	71,952,292 (GRCm39)	splice site	probably benign
IGL02946:Pitpnm3	APN	11	71,983,378 (GRCm39)	missense	probably benign	0.08
IGL02989:Pitpnm3	APN	11	72,011,012 (GRCm39)	splice site	probably benign
IGL03173:Pitpnm3	APN	11	71,983,389 (GRCm39)	missense	probably benign	0.02
IGL03357:Pitpnm3	APN	11	71,961,716 (GRCm39)	nonsense	probably null
Frank	UTSW	11	71,961,222 (GRCm39)	missense	probably benign
Mickey	UTSW	11	71,961,790 (GRCm39)	missense	probably damaging	1.00
Stuart	UTSW	11	71,942,755 (GRCm39)	missense	probably null	0.99
R0102:Pitpnm3	UTSW	11	71,947,072 (GRCm39)	missense	probably damaging	1.00
R0193:Pitpnm3	UTSW	11	71,961,318 (GRCm39)	splice site	probably benign
R0964:Pitpnm3	UTSW	11	71,949,296 (GRCm39)	missense	probably damaging	1.00
R1475:Pitpnm3	UTSW	11	71,965,453 (GRCm39)	missense	probably damaging	1.00
R1566:Pitpnm3	UTSW	11	71,949,785 (GRCm39)	splice site	probably null
R1951:Pitpnm3	UTSW	11	71,965,450 (GRCm39)	missense	possibly damaging	0.88
R3915:Pitpnm3	UTSW	11	72,003,110 (GRCm39)	missense	probably damaging	1.00
R4192:Pitpnm3	UTSW	11	71,942,785 (GRCm39)	missense	possibly damaging	0.96
R4278:Pitpnm3	UTSW	11	71,965,342 (GRCm39)	missense	probably damaging	1.00
R4928:Pitpnm3	UTSW	11	71,953,998 (GRCm39)	missense	probably damaging	1.00
R5543:Pitpnm3	UTSW	11	71,947,023 (GRCm39)	missense	probably damaging	0.99
R5626:Pitpnm3	UTSW	11	72,003,158 (GRCm39)	missense	probably benign	0.04
R5635:Pitpnm3	UTSW	11	71,957,986 (GRCm39)	missense	possibly damaging	0.95
R5958:Pitpnm3	UTSW	11	72,003,193 (GRCm39)	splice site	probably null
R6531:Pitpnm3	UTSW	11	71,962,313 (GRCm39)	missense	possibly damaging	0.94
R6634:Pitpnm3	UTSW	11	71,942,755 (GRCm39)	missense	probably null	0.99
R6764:Pitpnm3	UTSW	11	71,942,059 (GRCm39)	missense	probably damaging	1.00
R6912:Pitpnm3	UTSW	11	71,961,222 (GRCm39)	missense	probably benign
R7132:Pitpnm3	UTSW	11	71,942,102 (GRCm39)	missense	possibly damaging	0.86
R7307:Pitpnm3	UTSW	11	71,961,790 (GRCm39)	missense	probably damaging	1.00
R7561:Pitpnm3	UTSW	11	71,942,008 (GRCm39)	missense	probably benign	0.02
R7771:Pitpnm3	UTSW	11	71,952,314 (GRCm39)	nonsense	probably null
R8099:Pitpnm3	UTSW	11	71,961,144 (GRCm39)	missense	possibly damaging	0.85
R8753:Pitpnm3	UTSW	11	71,942,704 (GRCm39)	missense	probably benign	0.01
R8817:Pitpnm3	UTSW	11	71,941,894 (GRCm39)	missense	possibly damaging	0.74
R8987:Pitpnm3	UTSW	11	72,003,132 (GRCm39)	missense	probably damaging	1.00
R9054:Pitpnm3	UTSW	11	71,947,017 (GRCm39)	missense	probably damaging	0.97
R9450:Pitpnm3	UTSW	11	71,952,412 (GRCm39)	missense	possibly damaging	0.50
R9508:Pitpnm3	UTSW	11	72,003,121 (GRCm39)	missense	probably damaging	1.00
R9606:Pitpnm3	UTSW	11	71,955,069 (GRCm39)	missense	probably benign	0.02
R9740:Pitpnm3	UTSW	11	71,947,102 (GRCm39)	missense	probably benign	0.34
X0018:Pitpnm3	UTSW	11	71,962,266 (GRCm39)	missense	probably benign	0.42
X0062:Pitpnm3	UTSW	11	71,957,934 (GRCm39)	missense	probably damaging	1.00
Z1186:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1186:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1187:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1187:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1188:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1188:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1189:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1189:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1190:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1190:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1191:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1191:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1192:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1192:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign

Posted On

2014-02-04