Incidental Mutation 'R8753:Pitpnm3'
ID 663991
Institutional Source Beutler Lab
Gene Symbol Pitpnm3
Ensembl Gene ENSMUSG00000040543
Gene Name PITPNM family member 3
Synonyms A330068P14Rik, Ackr6
MMRRC Submission 068619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R8753 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 71938354-72026604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71942704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 861 (V861A)
Ref Sequence ENSEMBL: ENSMUSP00000074737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021164] [ENSMUST00000075258] [ENSMUST00000108508]
AlphaFold Q3UHE1
Predicted Effect probably benign
Transcript: ENSMUST00000021164
SMART Domains Protein: ENSMUSP00000021164
Gene: ENSMUSG00000020808

DomainStartEndE-ValueType
Pfam:DUF1466 1 224 1.8e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075258
AA Change: V861A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: V861A

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 benign
Transcript: ENSMUST00000108508
AA Change: V845A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: V845A

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
Meta Mutation Damage Score 0.7360 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (59/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,332,706 (GRCm39) Y1496H probably damaging Het
Acan G A 7: 78,748,516 (GRCm39) E1096K possibly damaging Het
Adprhl1 T C 8: 13,272,118 (GRCm39) K1547E possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arf4 T A 14: 26,374,114 (GRCm39) probably benign Het
Boc A T 16: 44,320,775 (GRCm39) M295K Het
C2cd3 T A 7: 100,049,024 (GRCm39) probably null Het
Calcrl C G 2: 84,178,659 (GRCm39) G223A probably benign Het
Calcrl C A 2: 84,178,661 (GRCm39) M222I probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Ccz1 A G 5: 143,925,050 (GRCm39) C469R probably benign Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Clpx G A 9: 65,223,958 (GRCm39) G251S probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Cpox T A 16: 58,498,391 (GRCm39) M408K probably damaging Het
Crybb3 A G 5: 113,226,247 (GRCm39) probably null Het
Cubn A T 2: 13,313,377 (GRCm39) C3064* probably null Het
Cxcl3 CCTGCTGCTGCTGCTG CCTGCTGCTGCTG 5: 90,934,071 (GRCm39) probably benign Het
Cyp4a31 A T 4: 115,432,158 (GRCm39) S432C probably benign Het
Ddias A T 7: 92,508,668 (GRCm39) F416I probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnttip2 A G 3: 122,074,398 (GRCm39) T612A probably damaging Het
Fnip1 A G 11: 54,400,867 (GRCm39) T1089A probably damaging Het
Gm12117 A T 11: 33,225,953 (GRCm39) L128M probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Ibtk T C 9: 85,610,819 (GRCm39) T285A probably benign Het
Ifi206 A T 1: 173,301,223 (GRCm39) N818K unknown Het
Itga10 T G 3: 96,558,471 (GRCm39) L305R probably damaging Het
Khnyn T C 14: 56,125,223 (GRCm39) Y461H possibly damaging Het
Macroh2a2 T C 10: 61,585,113 (GRCm39) D177G possibly damaging Het
Mbtps1 T C 8: 120,235,601 (GRCm39) S1026G possibly damaging Het
Msantd4 A G 9: 4,385,013 (GRCm39) E246G probably damaging Het
N4bp1 T C 8: 87,575,085 (GRCm39) I737V probably damaging Het
Nav2 T G 7: 49,102,320 (GRCm39) S373A probably benign Het
Nbea T C 3: 55,534,329 (GRCm39) Y2936C probably damaging Het
Nbeal1 A T 1: 60,307,542 (GRCm39) I1685F probably damaging Het
Nt5c3 C G 6: 56,860,677 (GRCm39) G293R probably damaging Het
Or4f14c A T 2: 111,940,802 (GRCm39) V265E probably benign Het
Or52z1 T A 7: 103,436,567 (GRCm39) I306F probably benign Het
Pcnx2 A T 8: 126,613,999 (GRCm39) V484E probably benign Het
Pcsk5 C T 19: 17,446,408 (GRCm39) R1195Q probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkd1 A G 17: 24,793,176 (GRCm39) Y1621C probably damaging Het
Polr3a C A 14: 24,513,702 (GRCm39) E846* probably null Het
Polr3e T C 7: 120,539,540 (GRCm39) V455A possibly damaging Het
Prr5l C T 2: 101,571,723 (GRCm39) G118D probably damaging Het
Pygl G T 12: 70,242,400 (GRCm39) N685K probably damaging Het
Rfx8 A G 1: 39,757,600 (GRCm39) V56A probably damaging Het
Sbf1 T C 15: 89,179,662 (GRCm39) D1341G probably benign Het
Selenon T C 4: 134,275,330 (GRCm39) T123A probably benign Het
Slc23a1 T G 18: 35,752,631 (GRCm39) K549Q probably benign Het
Slc7a13 T C 4: 19,841,443 (GRCm39) F430S probably damaging Het
Smarcc2 G A 10: 128,319,070 (GRCm39) V707M probably damaging Het
St18 A G 1: 6,916,015 (GRCm39) S887G probably damaging Het
T2 T C 17: 8,615,477 (GRCm39) probably benign Het
Tbc1d16 A G 11: 119,101,492 (GRCm39) L6P probably damaging Het
Tcf7l2 T C 19: 55,920,195 (GRCm39) L576P possibly damaging Het
Tnr A G 1: 159,677,936 (GRCm39) D107G probably benign Het
Trpv1 G T 11: 73,135,082 (GRCm39) K426N probably damaging Het
Vmn1r15 A T 6: 57,235,895 (GRCm39) L254F probably benign Het
Vmn1r219 A T 13: 23,347,191 (GRCm39) I127F probably damaging Het
Zc3h14 A T 12: 98,724,831 (GRCm39) E164D probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGCACTGCTATGCTATACAAG -3'
(R):5'- AGTGCAGATGAAGGGTTCCTC -3'

Sequencing Primer
(F):5'- ATTACATCGCAGCCACTTGG -3'
(R):5'- ATGAAGGGTTCCTCAGCGG -3'
Posted On 2021-03-08