Incidental Mutation 'IGL02613:Pitpnm3'
ID 300563
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 # IGL02613
Quality Score
Status
Chromosome 11
Chromosomal Location 71938354-72026604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71948898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 736 (S736T)
Ref Sequence ENSEMBL: ENSMUSP00000104148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075258] [ENSMUST00000108508]
AlphaFold Q3UHE1
Predicted Effect probably damaging
Transcript: ENSMUST00000075258
AA Change: S752T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: S752T

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 damaging
Transcript: ENSMUST00000108508
AA Change: S736T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: S736T

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: ENSMUST00000132781
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,655,833 (GRCm39) I549L possibly damaging Het
Arhgef17 A T 7: 100,578,103 (GRCm39) H948Q probably damaging Het
Auh A G 13: 53,073,035 (GRCm39) probably null Het
Btf3 A G 13: 98,446,714 (GRCm39) probably benign Het
Capg A G 6: 72,532,594 (GRCm39) N53S probably damaging Het
Cfap70 T C 14: 20,459,132 (GRCm39) probably null Het
Chrna5 A T 9: 54,913,705 (GRCm39) E417V probably damaging Het
Coch A G 12: 51,642,132 (GRCm39) T35A possibly damaging Het
Dock4 T A 12: 40,860,465 (GRCm39) L1284M probably damaging Het
Etv3 A G 3: 87,443,702 (GRCm39) T429A possibly damaging Het
Fmnl2 T C 2: 52,963,747 (GRCm39) probably null Het
Glb1 A G 9: 114,293,130 (GRCm39) T502A possibly damaging Het
Greb1 C A 12: 16,789,889 (GRCm39) probably null Het
Hspg2 A G 4: 137,271,731 (GRCm39) Y2499C probably damaging Het
Kcnq1 A T 7: 142,979,863 (GRCm39) probably benign Het
Lrriq1 A G 10: 102,980,409 (GRCm39) S1497P probably damaging Het
Magel2 G A 7: 62,029,946 (GRCm39) R950H unknown Het
Mcc A G 18: 44,563,021 (GRCm39) L982P probably damaging Het
Naif1 T A 2: 32,345,172 (GRCm39) M292K possibly damaging Het
Npb T A 11: 120,499,716 (GRCm39) C99S probably damaging Het
Obscn G T 11: 58,892,958 (GRCm39) R6763S probably benign Het
Or13a21 A G 7: 139,999,383 (GRCm39) V101A probably benign Het
Or5p56 C T 7: 107,590,381 (GRCm39) Q270* probably null Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Polr1a A T 6: 71,944,304 (GRCm39) E1257V probably damaging Het
Sec63 G A 10: 42,677,703 (GRCm39) D270N probably damaging Het
Snrnp200 C T 2: 127,060,346 (GRCm39) T530I probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Syk G A 13: 52,797,076 (GRCm39) G546R probably damaging Het
Tfap2d T A 1: 19,189,415 (GRCm39) L265Q probably damaging Het
Trav12-1 C T 14: 53,775,742 (GRCm39) S9L possibly damaging Het
Trerf1 T C 17: 47,659,766 (GRCm39) noncoding transcript Het
Ttn T A 2: 76,558,704 (GRCm39) I29726L possibly damaging Het
Usp18 A G 6: 121,238,049 (GRCm39) T143A probably benign Het
Usp32 A T 11: 84,930,896 (GRCm39) N511K probably damaging Het
Wdr64 C T 1: 175,594,613 (GRCm39) Q4* probably null Het
Zfp277 A G 12: 40,379,514 (GRCm39) F340S probably damaging Het
Other mutations in Pitpnm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Pitpnm3 APN 11 72,003,077 (GRCm39) splice site probably benign
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
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 2015-04-16