Incidental Mutation 'IGL03357:Pitpnm3'
ID419995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitpnm3
Ensembl Gene ENSMUSG00000040543
Gene NamePITPNM family member 3
SynonymsAckr6, A330068P14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03357
Quality Score
Status
Chromosome11
Chromosomal Location72047528-72135778 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 72070890 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 284 (Q284*)
Ref Sequence ENSEMBL: ENSMUSP00000104148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075258] [ENSMUST00000108508]
Predicted Effect probably null
Transcript: ENSMUST00000075258
AA Change: Q300*
SMART Domains Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: Q300*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000108508
AA Change: Q284*
SMART Domains Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: Q284*

DomainStartEndE-ValueType
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C T 19: 9,009,325 probably benign Het
Asah1 A G 8: 41,346,196 probably benign Het
BC005561 T G 5: 104,520,468 V952G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chd6 T C 2: 161,018,016 probably benign Het
Chn2 G A 6: 54,194,077 R47Q probably benign Het
Clmp A G 9: 40,686,327 probably benign Het
Col11a1 G A 3: 114,194,091 G245R probably damaging Het
Cyp4a32 T A 4: 115,611,601 S395T probably benign Het
Dcc A T 18: 71,327,554 I1155K probably damaging Het
Dpy19l4 G A 4: 11,267,615 H442Y probably damaging Het
Dpys T C 15: 39,824,216 I395M probably damaging Het
Dpysl2 T C 14: 66,813,287 K374E probably damaging Het
Fryl A T 5: 73,054,059 D660E probably damaging Het
Gabrb2 T C 11: 42,591,944 F210L probably damaging Het
Gm4831 C T 17: 37,111,987 probably benign Het
Igsf10 A T 3: 59,336,211 M234K probably benign Het
Ints11 T C 4: 155,872,124 probably benign Het
Mex3a T A 3: 88,536,246 S210T probably benign Het
Olfr1290 C T 2: 111,489,944 M71I probably benign Het
Olfr1302 G A 2: 111,780,526 V69I probably benign Het
Pde1c A G 6: 56,180,093 V106A probably damaging Het
Pkd1l2 A G 8: 116,995,809 L2420P probably damaging Het
Prpf39 A G 12: 65,061,437 probably benign Het
Prss28 C T 17: 25,309,695 T37I probably benign Het
Serpinb6c A T 13: 33,895,386 S108T probably benign Het
Snx7 T C 3: 117,838,875 H131R probably damaging Het
Tex101 A T 7: 24,668,333 I198K probably damaging Het
Thumpd2 T C 17: 81,044,090 probably benign Het
Ubqln3 A C 7: 104,142,556 I109S probably benign Het
Zfp212 A T 6: 47,930,837 N250I probably benign Het
Other mutations in Pitpnm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Pitpnm3 APN 11 72112251 splice site probably benign
IGL01871:Pitpnm3 APN 11 72056138 missense probably damaging 0.99
IGL02058:Pitpnm3 APN 11 72120139 missense probably benign 0.31
IGL02267:Pitpnm3 APN 11 72071448 missense probably benign 0.02
IGL02370:Pitpnm3 APN 11 72051858 missense probably benign 0.04
IGL02613:Pitpnm3 APN 11 72058072 missense probably damaging 1.00
IGL02835:Pitpnm3 APN 11 72061466 splice site probably benign
IGL02946:Pitpnm3 APN 11 72092552 missense probably benign 0.08
IGL02989:Pitpnm3 APN 11 72120186 splice site probably benign
IGL03173:Pitpnm3 APN 11 72092563 missense probably benign 0.02
Frank UTSW 11 72070396 missense probably benign
Mickey UTSW 11 72070964 missense probably damaging 1.00
Stuart UTSW 11 72051929 missense probably null 0.99
R0102:Pitpnm3 UTSW 11 72056246 missense probably damaging 1.00
R0193:Pitpnm3 UTSW 11 72070492 splice site probably benign
R0964:Pitpnm3 UTSW 11 72058470 missense probably damaging 1.00
R1475:Pitpnm3 UTSW 11 72074627 missense probably damaging 1.00
R1566:Pitpnm3 UTSW 11 72058959 splice site probably null
R1951:Pitpnm3 UTSW 11 72074624 missense possibly damaging 0.88
R3915:Pitpnm3 UTSW 11 72112284 missense probably damaging 1.00
R4192:Pitpnm3 UTSW 11 72051959 missense possibly damaging 0.96
R4278:Pitpnm3 UTSW 11 72074516 missense probably damaging 1.00
R4928:Pitpnm3 UTSW 11 72063172 missense probably damaging 1.00
R5543:Pitpnm3 UTSW 11 72056197 missense probably damaging 0.99
R5626:Pitpnm3 UTSW 11 72112332 missense probably benign 0.04
R5635:Pitpnm3 UTSW 11 72067160 missense possibly damaging 0.95
R5958:Pitpnm3 UTSW 11 72112367 splice site probably null
R6531:Pitpnm3 UTSW 11 72071487 missense possibly damaging 0.94
R6634:Pitpnm3 UTSW 11 72051929 missense probably null 0.99
R6764:Pitpnm3 UTSW 11 72051233 missense probably damaging 1.00
R6912:Pitpnm3 UTSW 11 72070396 missense probably benign
R7132:Pitpnm3 UTSW 11 72051276 missense possibly damaging 0.86
R7307:Pitpnm3 UTSW 11 72070964 missense probably damaging 1.00
R7561:Pitpnm3 UTSW 11 72051182 missense probably benign 0.02
R7771:Pitpnm3 UTSW 11 72061488 nonsense probably null
X0018:Pitpnm3 UTSW 11 72071440 missense probably benign 0.42
X0062:Pitpnm3 UTSW 11 72067108 missense probably damaging 1.00
Posted On2016-08-02