Incidental Mutation 'R0102:Pitpnm3'
ID 16540
Institutional Source Beutler Lab
Gene Symbol Pitpnm3
Ensembl Gene ENSMUSG00000040543
Gene Name PITPNM family member 3
Synonyms A330068P14Rik, Ackr6
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0102 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 71938354-72026604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71947072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 776 (V776M)
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: V792M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: V792M

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: V776M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: V776M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134210
Meta Mutation Damage Score 0.5881 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Adcy4 A C 14: 56,008,990 (GRCm39) N812K probably benign Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bod1l G A 5: 41,974,612 (GRCm39) P2234L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lmbrd2 G A 15: 9,184,039 (GRCm39) R551K probably damaging Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Mat1a T A 14: 40,842,187 (GRCm39) probably benign Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mroh5 A T 15: 73,691,199 (GRCm39) D155E probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Ntrk2 T C 13: 58,956,607 (GRCm39) V22A probably benign Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or2t35 C T 14: 14,407,876 (GRCm38) S218F probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Pde4b T A 4: 102,447,375 (GRCm39) S9T probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prorp A G 12: 55,429,082 (GRCm39) D535G probably benign Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Spata31h1 T A 10: 82,119,390 (GRCm39) K4540M probably damaging Het
Spata31h2 T A 5: 23,542,489 (GRCm39) noncoding transcript Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trgv4 T G 13: 19,369,370 (GRCm39) F38C possibly damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Vwa3b A C 1: 37,174,595 (GRCm39) E670A 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
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
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 2013-01-20