Incidental Mutation 'R5058:Pitpnm1'
ID 391065
Institutional Source Beutler Lab
Gene Symbol Pitpnm1
Ensembl Gene ENSMUSG00000024851
Gene Name phosphatidylinositol transfer protein, membrane-associated 1
Synonyms RdgB, DRES9
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5058 (G1)
Quality Score 193
Status Validated
Chromosome 19
Chromosomal Location 4150012-4163966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4162758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1117 (N1117S)
Ref Sequence ENSEMBL: ENSMUSP00000097599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025767] [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000117831] [ENSMUST00000121402]
AlphaFold O35954
Predicted Effect probably benign
Transcript: ENSMUST00000025767
SMART Domains Protein: ENSMUSP00000025767
Gene: ENSMUSG00000024847

DomainStartEndE-ValueType
Pfam:FKBP_C 26 155 5.3e-11 PFAM
PDB:4APO|B 166 330 1e-113 PDB
SCOP:d1ihga1 170 322 1e-14 SMART
Blast:TPR 231 264 3e-7 BLAST
Blast:TPR 265 298 7e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000049658
AA Change: N1117S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: N1117S

DomainStartEndE-ValueType
Pfam:IP_trans 1 252 2e-145 PFAM
low complexity region 284 304 N/A INTRINSIC
low complexity region 310 319 N/A INTRINSIC
low complexity region 342 349 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 557 571 N/A INTRINSIC
low complexity region 578 593 N/A INTRINSIC
DDHD 685 879 5.94e-86 SMART
Blast:DDHD 880 963 2e-42 BLAST
LNS2 1022 1153 1.35e-57 SMART
low complexity region 1184 1195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100022
AA Change: N1117S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: N1117S

DomainStartEndE-ValueType
Pfam:IP_trans 1 250 1.6e-113 PFAM
low complexity region 284 304 N/A INTRINSIC
low complexity region 310 319 N/A INTRINSIC
low complexity region 342 349 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 557 571 N/A INTRINSIC
low complexity region 578 593 N/A INTRINSIC
DDHD 685 879 5.94e-86 SMART
Blast:DDHD 880 963 2e-42 BLAST
LNS2 1022 1153 1.35e-57 SMART
low complexity region 1184 1195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117831
SMART Domains Protein: ENSMUSP00000113807
Gene: ENSMUSG00000024847

DomainStartEndE-ValueType
Pfam:FKBP_C 26 155 1e-10 PFAM
PDB:4APO|B 166 330 1e-113 PDB
SCOP:d1ihga1 170 322 1e-14 SMART
Blast:TPR 231 264 3e-7 BLAST
Blast:TPR 265 298 7e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121402
SMART Domains Protein: ENSMUSP00000114096
Gene: ENSMUSG00000024847

DomainStartEndE-ValueType
Pfam:FKBP_C 26 155 1.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145214
Meta Mutation Damage Score 0.0709 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM1 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: Mice homozygous for a knock-out allele exhibit male-specific decrease in circulating cholesterol and circulating calcium levels and female-specific decreased leukocyte cell numbers and a slight increase in auditory brainstem response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging Het
Other mutations in Pitpnm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Pitpnm1 APN 19 4,160,665 (GRCm39) splice site probably null
IGL00978:Pitpnm1 APN 19 4,151,228 (GRCm39) missense possibly damaging 0.61
IGL02039:Pitpnm1 APN 19 4,155,032 (GRCm39) missense probably benign 0.01
IGL02122:Pitpnm1 APN 19 4,157,796 (GRCm39) missense probably damaging 1.00
IGL02279:Pitpnm1 APN 19 4,151,207 (GRCm39) missense probably damaging 1.00
IGL02316:Pitpnm1 APN 19 4,162,835 (GRCm39) missense probably benign 0.16
IGL02434:Pitpnm1 APN 19 4,153,377 (GRCm39) missense probably benign 0.00
R0926:Pitpnm1 UTSW 19 4,162,338 (GRCm39) missense probably damaging 1.00
R1301:Pitpnm1 UTSW 19 4,160,831 (GRCm39) splice site probably null
R1423:Pitpnm1 UTSW 19 4,162,392 (GRCm39) missense probably damaging 1.00
R1592:Pitpnm1 UTSW 19 4,156,964 (GRCm39) critical splice donor site probably null
R1733:Pitpnm1 UTSW 19 4,159,960 (GRCm39) nonsense probably null
R1844:Pitpnm1 UTSW 19 4,162,395 (GRCm39) missense probably damaging 1.00
R1971:Pitpnm1 UTSW 19 4,162,450 (GRCm39) missense probably damaging 1.00
R1978:Pitpnm1 UTSW 19 4,157,973 (GRCm39) splice site probably null
R2016:Pitpnm1 UTSW 19 4,161,873 (GRCm39) missense probably benign 0.25
R2017:Pitpnm1 UTSW 19 4,161,873 (GRCm39) missense probably benign 0.25
R2019:Pitpnm1 UTSW 19 4,163,641 (GRCm39) missense probably damaging 1.00
R2210:Pitpnm1 UTSW 19 4,155,253 (GRCm39) missense probably damaging 1.00
R2393:Pitpnm1 UTSW 19 4,160,935 (GRCm39) missense probably benign 0.02
R3434:Pitpnm1 UTSW 19 4,162,234 (GRCm39) missense probably damaging 1.00
R3439:Pitpnm1 UTSW 19 4,162,752 (GRCm39) missense probably benign 0.00
R4554:Pitpnm1 UTSW 19 4,153,085 (GRCm39) missense probably benign 0.16
R4555:Pitpnm1 UTSW 19 4,153,085 (GRCm39) missense probably benign 0.16
R4557:Pitpnm1 UTSW 19 4,153,085 (GRCm39) missense probably benign 0.16
R4831:Pitpnm1 UTSW 19 4,158,130 (GRCm39) missense probably damaging 1.00
R4874:Pitpnm1 UTSW 19 4,162,252 (GRCm39) critical splice donor site probably null
R5069:Pitpnm1 UTSW 19 4,161,140 (GRCm39) missense probably benign 0.44
R5249:Pitpnm1 UTSW 19 4,158,130 (GRCm39) missense probably damaging 1.00
R5288:Pitpnm1 UTSW 19 4,153,435 (GRCm39) missense probably damaging 0.99
R5385:Pitpnm1 UTSW 19 4,153,435 (GRCm39) missense probably damaging 0.99
R5619:Pitpnm1 UTSW 19 4,153,270 (GRCm39) missense probably damaging 1.00
R5650:Pitpnm1 UTSW 19 4,153,319 (GRCm39) missense possibly damaging 0.78
R6267:Pitpnm1 UTSW 19 4,160,522 (GRCm39) missense probably damaging 1.00
R6341:Pitpnm1 UTSW 19 4,152,829 (GRCm39) nonsense probably null
R6608:Pitpnm1 UTSW 19 4,160,875 (GRCm39) missense probably damaging 1.00
R6739:Pitpnm1 UTSW 19 4,160,522 (GRCm39) missense probably damaging 1.00
R6915:Pitpnm1 UTSW 19 4,156,947 (GRCm39) missense possibly damaging 0.95
R7141:Pitpnm1 UTSW 19 4,152,787 (GRCm39) missense probably damaging 0.97
R7751:Pitpnm1 UTSW 19 4,153,470 (GRCm39) missense probably benign 0.02
R8057:Pitpnm1 UTSW 19 4,162,145 (GRCm39) missense probably null 0.71
R8210:Pitpnm1 UTSW 19 4,162,878 (GRCm39) critical splice donor site probably null
R8415:Pitpnm1 UTSW 19 4,155,454 (GRCm39) missense probably benign 0.37
R8462:Pitpnm1 UTSW 19 4,155,135 (GRCm39) missense probably benign 0.03
R8808:Pitpnm1 UTSW 19 4,162,356 (GRCm39) missense possibly damaging 0.94
R9060:Pitpnm1 UTSW 19 4,156,869 (GRCm39) missense probably damaging 0.96
R9646:Pitpnm1 UTSW 19 4,153,269 (GRCm39) missense probably damaging 1.00
R9766:Pitpnm1 UTSW 19 4,158,117 (GRCm39) missense probably benign 0.10
Z1177:Pitpnm1 UTSW 19 4,159,996 (GRCm39) missense probably null 1.00
Z1177:Pitpnm1 UTSW 19 4,155,009 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGGACGTAAAGAGGCCTC -3'
(R):5'- GCCACAAATGCCTTATATCTGC -3'

Sequencing Primer
(F):5'- CGTAAAGAGGCCTCTGTGG -3'
(R):5'- TCTTGCAGGAATCAACACACTGG -3'
Posted On 2016-06-06