Incidental Mutation 'R0926:Pitpnm1'
ID 83228
Institutional Source Beutler Lab
Gene Symbol Pitpnm1
Ensembl Gene ENSMUSG00000024851
Gene Name phosphatidylinositol transfer protein, membrane-associated 1
Synonyms RdgB, DRES9
MMRRC Submission 039073-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0926 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4150012-4163966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4162338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1056 (D1056G)
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 damaging
Transcript: ENSMUST00000049658
AA Change: D1056G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: D1056G

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 damaging
Transcript: ENSMUST00000100022
AA Change: D1056G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: D1056G

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: ENSMUST00000128798
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: ENSMUST00000145214
Meta Mutation Damage Score 0.7543 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,832 (GRCm39) D514G probably damaging Het
Acbd7 A T 2: 3,341,478 (GRCm39) I41F possibly damaging Het
Actr8 G T 14: 29,709,181 (GRCm39) V262L probably benign Het
Anp32e A G 3: 95,844,454 (GRCm39) D108G probably damaging Het
Banp G A 8: 122,747,294 (GRCm39) G448S probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Cd22 C A 7: 30,568,934 (GRCm39) probably null Het
Cfap58 A T 19: 47,951,001 (GRCm39) Q454L probably damaging Het
Cntn4 C T 6: 106,632,542 (GRCm39) T522I probably benign Het
Col11a1 G A 3: 113,883,829 (GRCm39) D233N unknown Het
Csmd1 G T 8: 16,083,590 (GRCm39) probably null Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
D5Ertd579e G T 5: 36,830,210 (GRCm39) P38Q probably damaging Het
Dnal4 T C 15: 79,646,226 (GRCm39) T93A probably benign Het
Dsp A T 13: 38,367,194 (GRCm39) D614V probably damaging Het
Fcgr1 A T 3: 96,199,682 (GRCm39) I75N possibly damaging Het
Fgd6 T A 10: 93,970,909 (GRCm39) Y1229N probably benign Het
Fhip2a G A 19: 57,369,522 (GRCm39) A383T probably damaging Het
Frmpd1 T G 4: 45,268,497 (GRCm39) L214R probably damaging Het
Gapvd1 A T 2: 34,602,337 (GRCm39) D603E probably damaging Het
H2-M9 A G 17: 36,952,665 (GRCm39) V127A probably damaging Het
Herc2 T A 7: 55,782,296 (GRCm39) S1328T possibly damaging Het
Ica1l T C 1: 60,045,456 (GRCm39) N269S probably benign Het
Il18r1 T C 1: 40,526,188 (GRCm39) Y245H probably damaging Het
Il6ra A T 3: 89,794,376 (GRCm39) V195E probably damaging Het
Inpp5j A G 11: 3,451,439 (GRCm39) probably benign Het
Isy1 T C 6: 87,796,125 (GRCm39) T271A probably benign Het
Klra9 T C 6: 130,155,993 (GRCm39) Y254C probably damaging Het
Ly6e T G 15: 74,830,219 (GRCm39) S73A probably damaging Het
Mcmdc2 T A 1: 9,990,801 (GRCm39) L326* probably null Het
Muc4 G A 16: 32,576,570 (GRCm39) probably benign Het
Myh3 A G 11: 66,981,340 (GRCm39) probably null Het
Ndor1 G A 2: 25,138,360 (GRCm39) H409Y probably benign Het
Nwd2 A G 5: 63,965,234 (GRCm39) D1606G probably damaging Het
Or2t44 A G 11: 58,677,935 (GRCm39) N292D probably damaging Het
Or3a1d G A 11: 74,238,132 (GRCm39) R93C probably benign Het
Or4f7 A G 2: 111,644,892 (GRCm39) Y60H probably damaging Het
Or51f1e T C 7: 102,747,092 (GRCm39) L48P probably damaging Het
Or5b99 A T 19: 12,976,554 (GRCm39) D68V probably damaging Het
Or5h18 A G 16: 58,848,051 (GRCm39) I73T possibly damaging Het
Or5l13 A T 2: 87,780,266 (GRCm39) F104I probably damaging Het
Paox C A 7: 139,713,951 (GRCm39) T237K probably damaging Het
Pcmtd1 T A 1: 7,231,243 (GRCm39) L4I probably damaging Het
Pfkl T A 10: 77,836,523 (GRCm39) T165S probably damaging Het
Pik3ap1 A G 19: 41,290,964 (GRCm39) S523P probably benign Het
Pitpnm2 G A 5: 124,269,272 (GRCm39) T450I probably benign Het
Pou2f3 T C 9: 43,058,198 (GRCm39) D37G probably damaging Het
Prdm5 A G 6: 65,860,531 (GRCm39) H221R probably damaging Het
Pwp1 T A 10: 85,712,378 (GRCm39) I72N probably damaging Het
Rhou A G 8: 124,387,715 (GRCm39) E149G probably damaging Het
She A G 3: 89,758,901 (GRCm39) probably benign Het
Slc26a9 A C 1: 131,680,954 (GRCm39) H121P probably benign Het
Spag17 A G 3: 99,979,432 (GRCm39) D1431G probably benign Het
Trpm3 A T 19: 22,965,407 (GRCm39) D1634V probably benign Het
Ttn A G 2: 76,627,571 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,724,849 (GRCm39) D170E possibly damaging Het
Zcrb1 T C 15: 93,289,409 (GRCm39) K51E probably damaging Het
Zfp110 C T 7: 12,583,808 (GRCm39) Q819* probably null Het
Zfp616 A G 11: 73,976,644 (GRCm39) N971S probably benign Het
Zfp827 A T 8: 79,844,821 (GRCm39) T664S probably benign 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
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
R5058:Pitpnm1 UTSW 19 4,162,758 (GRCm39) missense probably benign 0.00
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'- TGCCAGTGTCTCTATCATGGGCAG -3'
(R):5'- GGGGCAAGGTTCTAGTCAACACAG -3'

Sequencing Primer
(F):5'- TCTATCATGGGCAGCGACC -3'
(R):5'- GTTCTAGTCAACACAGCTCAGGAG -3'
Posted On 2013-11-08