Incidental Mutation 'IGL02399:Pitpnm2'
ID 291841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitpnm2
Ensembl Gene ENSMUSG00000029406
Gene Name phosphatidylinositol transfer protein, membrane-associated 2
Synonyms RDGBA2, NIR3, Rdgb2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02399
Quality Score
Status
Chromosome 5
Chromosomal Location 124256753-124387823 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 124278821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086123] [ENSMUST00000159677] [ENSMUST00000161273] [ENSMUST00000161644] [ENSMUST00000161938] [ENSMUST00000162812]
AlphaFold Q6ZPQ6
Predicted Effect probably benign
Transcript: ENSMUST00000086123
SMART Domains Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 6.1e-132 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
low complexity region 507 515 N/A INTRINSIC
Blast:DDHD 548 570 6e-7 BLAST
low complexity region 571 589 N/A INTRINSIC
low complexity region 608 630 N/A INTRINSIC
low complexity region 682 689 N/A INTRINSIC
DDHD 701 895 1.66e-98 SMART
LNS2 1040 1171 3.22e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159677
SMART Domains Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 3.2e-130 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
low complexity region 420 436 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161273
SMART Domains Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 3.2e-129 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Blast:DDHD 422 670 2e-65 BLAST
low complexity region 682 689 N/A INTRINSIC
DDHD 701 945 7.5e-100 SMART
LNS2 1090 1221 3.1e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161530
Predicted Effect probably benign
Transcript: ENSMUST00000161644
Predicted Effect probably benign
Transcript: ENSMUST00000161938
SMART Domains Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406

DomainStartEndE-ValueType
Pfam:IP_trans 1 251 7.5e-116 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Blast:DDHD 422 670 2e-65 BLAST
low complexity region 682 689 N/A INTRINSIC
DDHD 701 949 8.37e-104 SMART
LNS2 1094 1225 3.22e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162812
SMART Domains Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406

DomainStartEndE-ValueType
Pfam:IP_trans 1 253 6.1e-132 PFAM
low complexity region 298 319 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
low complexity region 507 515 N/A INTRINSIC
Blast:DDHD 548 570 6e-7 BLAST
low complexity region 571 589 N/A INTRINSIC
low complexity region 608 630 N/A INTRINSIC
low complexity region 682 689 N/A INTRINSIC
DDHD 701 895 1.66e-98 SMART
LNS2 1040 1171 3.22e-55 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no defects pertaining to photoreceptor function or survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,700,413 (GRCm39) probably benign Het
Adarb1 G A 10: 77,131,588 (GRCm39) P624S probably benign Het
Afg3l2 A T 18: 67,562,110 (GRCm39) F322I possibly damaging Het
Arhgap23 A G 11: 97,381,831 (GRCm39) probably benign Het
Atp13a1 A G 8: 70,259,751 (GRCm39) N1114S probably damaging Het
C3ar1 T C 6: 122,826,838 (GRCm39) N460D probably benign Het
Cacna1e A G 1: 154,279,493 (GRCm39) Y1988H probably damaging Het
Calr T C 8: 85,569,415 (GRCm39) probably benign Het
D5Ertd579e A G 5: 36,773,529 (GRCm39) S289P probably damaging Het
Erbb4 G A 1: 68,081,596 (GRCm39) probably benign Het
Fam98a A G 17: 75,845,936 (GRCm39) probably benign Het
Gm3739 A T 14: 18,505,274 (GRCm39) D83E possibly damaging Het
Gm5420 A T 10: 21,567,071 (GRCm39) noncoding transcript Het
Heatr5b A G 17: 79,135,396 (GRCm39) V245A probably damaging Het
Kptn C A 7: 15,861,038 (GRCm39) probably benign Het
Llgl2 T C 11: 115,735,661 (GRCm39) C86R probably damaging Het
Lrr1 T A 12: 69,215,665 (GRCm39) C12* probably null Het
Mcf2 T C X: 59,180,812 (GRCm39) D255G probably damaging Het
Med13 A T 11: 86,174,771 (GRCm39) probably benign Het
Mthfd1 C T 12: 76,364,406 (GRCm39) T735M probably damaging Het
Nlrp2 C T 7: 5,331,809 (GRCm39) A196T probably damaging Het
Nnmt T C 9: 48,514,838 (GRCm39) I60V probably damaging Het
Odad2 G T 18: 7,285,719 (GRCm39) Q215K probably benign Het
Or4c110 T A 2: 88,832,507 (GRCm39) T42S probably benign Het
Or6ae1 A T 7: 139,742,513 (GRCm39) S117T probably benign Het
P2rx3 T C 2: 84,853,571 (GRCm39) I140V probably benign Het
Patj A G 4: 98,480,173 (GRCm39) N1293D probably damaging Het
Ppp1r26 T G 2: 28,343,292 (GRCm39) V974G probably benign Het
Prrc2b T A 2: 32,116,973 (GRCm39) L1376* probably null Het
Rab33a T A X: 47,608,584 (GRCm39) I36N probably damaging Het
Rab3gap1 A T 1: 127,855,840 (GRCm39) N493I possibly damaging Het
Scara3 C A 14: 66,170,559 (GRCm39) G107* probably null Het
Siglec1 T C 2: 130,913,098 (GRCm39) E1606G probably benign Het
Skint9 A T 4: 112,246,447 (GRCm39) Y222N possibly damaging Het
Slc47a1 A T 11: 61,253,884 (GRCm39) I185N probably damaging Het
Slc47a2 C A 11: 61,193,020 (GRCm39) probably benign Het
Slc4a2 A G 5: 24,639,711 (GRCm39) I506V probably damaging Het
Slc9a4 A C 1: 40,639,942 (GRCm39) I245L probably benign Het
Smarcb1 T C 10: 75,733,328 (GRCm39) T357A probably damaging Het
Spata31d1d A G 13: 59,877,954 (GRCm39) probably benign Het
Stox2 T A 8: 47,639,573 (GRCm39) I874F probably damaging Het
Taar7b A T 10: 23,876,050 (GRCm39) I72F probably damaging Het
Tacc2 G A 7: 130,225,129 (GRCm39) V605I probably benign Het
Tef T C 15: 81,699,301 (GRCm39) L34P probably damaging Het
Trak2 A G 1: 58,949,204 (GRCm39) V532A probably benign Het
Usp13 T A 3: 32,973,209 (GRCm39) D795E probably damaging Het
Vmn1r32 T A 6: 66,529,913 (GRCm39) I288F probably benign Het
Vmn1r75 T C 7: 11,615,093 (GRCm39) I275T possibly damaging Het
Zfp871 A T 17: 32,993,329 (GRCm39) F615L probably benign Het
Zfp941 G A 7: 140,392,612 (GRCm39) T249M probably benign Het
Zhx1 T C 15: 57,917,137 (GRCm39) I370V probably damaging Het
Other mutations in Pitpnm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pitpnm2 APN 5 124,259,726 (GRCm39) unclassified probably benign
IGL01660:Pitpnm2 APN 5 124,261,257 (GRCm39) missense probably damaging 1.00
IGL02328:Pitpnm2 APN 5 124,259,477 (GRCm39) missense probably damaging 0.99
IGL02340:Pitpnm2 APN 5 124,268,676 (GRCm39) missense probably damaging 1.00
IGL02719:Pitpnm2 APN 5 124,278,665 (GRCm39) missense probably damaging 1.00
IGL03053:Pitpnm2 APN 5 124,281,664 (GRCm39) missense probably damaging 1.00
IGL03083:Pitpnm2 APN 5 124,271,445 (GRCm39) missense possibly damaging 0.92
PIT4131001:Pitpnm2 UTSW 5 124,269,178 (GRCm39) missense probably benign 0.01
R0058:Pitpnm2 UTSW 5 124,262,093 (GRCm39) missense probably damaging 1.00
R0437:Pitpnm2 UTSW 5 124,269,152 (GRCm39) splice site probably benign
R0530:Pitpnm2 UTSW 5 124,269,264 (GRCm39) missense probably damaging 1.00
R0568:Pitpnm2 UTSW 5 124,278,580 (GRCm39) splice site probably benign
R0926:Pitpnm2 UTSW 5 124,269,272 (GRCm39) missense probably benign 0.10
R1625:Pitpnm2 UTSW 5 124,271,496 (GRCm39) missense probably benign 0.05
R2008:Pitpnm2 UTSW 5 124,290,684 (GRCm39) start codon destroyed probably damaging 0.99
R2120:Pitpnm2 UTSW 5 124,265,332 (GRCm39) missense probably damaging 1.00
R2354:Pitpnm2 UTSW 5 124,260,982 (GRCm39) missense probably damaging 0.99
R2448:Pitpnm2 UTSW 5 124,262,057 (GRCm39) missense probably damaging 1.00
R2509:Pitpnm2 UTSW 5 124,274,389 (GRCm39) missense probably damaging 0.99
R2510:Pitpnm2 UTSW 5 124,274,389 (GRCm39) missense probably damaging 0.99
R2511:Pitpnm2 UTSW 5 124,274,389 (GRCm39) missense probably damaging 0.99
R2520:Pitpnm2 UTSW 5 124,267,464 (GRCm39) missense probably damaging 0.96
R2860:Pitpnm2 UTSW 5 124,259,500 (GRCm39) missense probably damaging 1.00
R2861:Pitpnm2 UTSW 5 124,259,500 (GRCm39) missense probably damaging 1.00
R4407:Pitpnm2 UTSW 5 124,290,678 (GRCm39) missense possibly damaging 0.57
R4417:Pitpnm2 UTSW 5 124,261,632 (GRCm39) missense probably damaging 1.00
R4426:Pitpnm2 UTSW 5 124,280,186 (GRCm39) missense probably benign 0.32
R4458:Pitpnm2 UTSW 5 124,259,439 (GRCm39) missense probably benign 0.00
R4610:Pitpnm2 UTSW 5 124,263,434 (GRCm39) missense probably damaging 0.99
R4786:Pitpnm2 UTSW 5 124,259,806 (GRCm39) nonsense probably null
R4903:Pitpnm2 UTSW 5 124,290,668 (GRCm39) missense probably damaging 1.00
R5151:Pitpnm2 UTSW 5 124,274,449 (GRCm39) missense probably damaging 1.00
R5315:Pitpnm2 UTSW 5 124,259,996 (GRCm39) missense probably benign 0.18
R5592:Pitpnm2 UTSW 5 124,280,212 (GRCm39) missense probably damaging 1.00
R5792:Pitpnm2 UTSW 5 124,268,384 (GRCm39) nonsense probably null
R6846:Pitpnm2 UTSW 5 124,269,234 (GRCm39) missense probably benign 0.00
R6983:Pitpnm2 UTSW 5 124,271,469 (GRCm39) missense probably damaging 1.00
R7096:Pitpnm2 UTSW 5 124,267,324 (GRCm39) missense possibly damaging 0.69
R7188:Pitpnm2 UTSW 5 124,259,366 (GRCm39) missense probably benign 0.31
R7203:Pitpnm2 UTSW 5 124,259,522 (GRCm39) missense probably damaging 0.96
R7237:Pitpnm2 UTSW 5 124,263,360 (GRCm39) critical splice donor site probably null
R7257:Pitpnm2 UTSW 5 124,263,419 (GRCm39) missense possibly damaging 0.88
R7622:Pitpnm2 UTSW 5 124,260,090 (GRCm39) missense probably benign 0.39
R7677:Pitpnm2 UTSW 5 124,261,632 (GRCm39) missense probably damaging 1.00
R7736:Pitpnm2 UTSW 5 124,261,093 (GRCm39) missense possibly damaging 0.47
R7745:Pitpnm2 UTSW 5 124,266,768 (GRCm39) missense probably benign 0.19
R8041:Pitpnm2 UTSW 5 124,259,519 (GRCm39) missense probably damaging 1.00
R9070:Pitpnm2 UTSW 5 124,259,375 (GRCm39) missense probably damaging 1.00
R9218:Pitpnm2 UTSW 5 124,265,344 (GRCm39) missense probably damaging 0.97
R9423:Pitpnm2 UTSW 5 124,271,469 (GRCm39) missense probably benign 0.05
R9438:Pitpnm2 UTSW 5 124,269,342 (GRCm39) missense probably damaging 0.99
R9439:Pitpnm2 UTSW 5 124,278,659 (GRCm39) missense probably damaging 1.00
R9439:Pitpnm2 UTSW 5 124,274,189 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16