Incidental Mutation 'R0568:Pitpnm2'
ID 46257
Institutional Source Beutler Lab
Gene Symbol Pitpnm2
Ensembl Gene ENSMUSG00000029406
Gene Name phosphatidylinositol transfer protein, membrane-associated 2
Synonyms RDGBA2, NIR3, Rdgb2
MMRRC Submission 038759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0568 (G1)
Quality Score 217
Status Validated
Chromosome 5
Chromosomal Location 124256753-124387823 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 124278580 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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 G A 4: 49,451,003 (GRCm39) T36I possibly damaging Het
Adamts20 T C 15: 94,189,594 (GRCm39) probably benign Het
Adamtsl1 T C 4: 86,336,789 (GRCm39) L1558S probably damaging Het
Ap3b2 A G 7: 81,114,377 (GRCm39) probably null Het
Bag2 T C 1: 33,786,059 (GRCm39) M88V probably benign Het
Brms1l A G 12: 55,908,173 (GRCm39) probably null Het
C8b A G 4: 104,650,577 (GRCm39) I462V probably benign Het
Cfap410 C T 10: 77,818,872 (GRCm39) T181I possibly damaging Het
Cfap410 A T 10: 77,820,381 (GRCm39) *250C probably null Het
Cnpy4 A G 5: 138,190,839 (GRCm39) E167G probably damaging Het
Copa T C 1: 171,939,704 (GRCm39) V624A possibly damaging Het
Gm4553 G T 7: 141,719,357 (GRCm39) P24T unknown Het
Gna12 A G 5: 140,746,638 (GRCm39) V269A possibly damaging Het
Gtf2ird2 G T 5: 134,240,083 (GRCm39) E302* probably null Het
Hmcn2 C A 2: 31,305,248 (GRCm39) S3140R probably benign Het
Hspa4 A G 11: 53,153,703 (GRCm39) probably benign Het
Hspbp1 A T 7: 4,687,431 (GRCm39) L60* probably null Het
Lats1 A T 10: 7,588,292 (GRCm39) I970F possibly damaging Het
Lipo3 T C 19: 33,559,442 (GRCm39) probably benign Het
Lrrc3 T A 10: 77,737,419 (GRCm39) R6W probably damaging Het
Lxn C T 3: 67,368,335 (GRCm39) A143T probably damaging Het
Mga T C 2: 119,765,903 (GRCm39) I1390T probably damaging Het
Ncapg2 T A 12: 116,386,835 (GRCm39) I286N probably damaging Het
Or4c107 T A 2: 88,789,387 (GRCm39) Y192* probably null Het
Plxna2 T C 1: 194,433,694 (GRCm39) V581A probably benign Het
Polr3d A T 14: 70,676,959 (GRCm39) H378Q possibly damaging Het
Ptpn13 T C 5: 103,637,631 (GRCm39) V173A probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syngr3 C T 17: 24,905,555 (GRCm39) A140T probably benign Het
Tent2 A G 13: 93,291,500 (GRCm39) S381P probably benign Het
Tprn T C 2: 25,154,333 (GRCm39) V545A probably damaging Het
Trim66 T C 7: 109,059,902 (GRCm39) H828R probably benign Het
Ugt2b5 G A 5: 87,285,224 (GRCm39) probably benign Het
Vps9d1 A G 8: 123,973,487 (GRCm39) V432A probably damaging Het
Zswim9 A T 7: 12,994,952 (GRCm39) D401E 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
IGL02399:Pitpnm2 APN 5 124,278,821 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGGCATACTGGTCCTGGATGG -3'
(R):5'- TGTTCCAGTCAGTCAAGACTTGCCG -3'

Sequencing Primer
(F):5'- gcttttgctctttgcctacttg -3'
(R):5'- CGGGGACCTCTTTCTGAAAAC -3'
Posted On 2013-06-11