Incidental Mutation 'R1301:Pitpnm1'
ID 158391
Institutional Source Beutler Lab
Gene Symbol Pitpnm1
Ensembl Gene ENSMUSG00000024851
Gene Name phosphatidylinositol transfer protein, membrane-associated 1
Synonyms RdgB, DRES9
MMRRC Submission 039367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1301 (G1)
Quality Score 223
Status Validated
Chromosome 19
Chromosomal Location 4150012-4163966 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 4160831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025767] [ENSMUST00000049658] [ENSMUST00000049658] [ENSMUST00000100022] [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 null
Transcript: ENSMUST00000049658
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851

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 null
Transcript: ENSMUST00000049658
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851

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 null
Transcript: ENSMUST00000100022
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851

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 null
Transcript: ENSMUST00000100022
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851

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: ENSMUST00000126620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127056
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.3%
  • 20x: 82.6%
Validation Efficiency 96% (67/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,291,635 (GRCm39) I24L probably benign Het
Ano1 A G 7: 144,187,426 (GRCm39) W447R possibly damaging Het
Blm T A 7: 80,105,165 (GRCm39) K103* probably null Het
Camta2 A G 11: 70,567,230 (GRCm39) I675T probably benign Het
Catsperz G A 19: 6,902,450 (GRCm39) R15C probably damaging Het
Chd1l T C 3: 97,510,964 (GRCm39) probably benign Het
Corin C A 5: 72,462,276 (GRCm39) E844D possibly damaging Het
Cyb5rl T G 4: 106,938,104 (GRCm39) M127R probably damaging Het
Dcdc2a A T 13: 25,286,569 (GRCm39) N164I possibly damaging Het
Dnah6 A G 6: 73,185,528 (GRCm39) probably null Het
Emilin2 T C 17: 71,562,960 (GRCm39) probably benign Het
Epb41l2 T A 10: 25,319,800 (GRCm39) V211D probably damaging Het
Fbxo47 C T 11: 97,759,427 (GRCm39) M166I probably benign Het
Golm1 T C 13: 59,786,187 (GRCm39) D335G probably damaging Het
Gpn1 T A 5: 31,660,773 (GRCm39) M188K probably damaging Het
Gpr84 T A 15: 103,217,646 (GRCm39) S144C probably damaging Het
Grm8 G T 6: 27,981,200 (GRCm39) Q237K possibly damaging Het
Gsdmd C A 15: 75,738,908 (GRCm39) probably null Het
Hmgcr G A 13: 96,795,528 (GRCm39) T347I probably damaging Het
Hsd17b7 T A 1: 169,788,774 (GRCm39) probably benign Het
Hsd3b9 G A 3: 98,354,182 (GRCm39) Q106* probably null Het
Klhl7 T G 5: 24,364,489 (GRCm39) W508G probably damaging Het
Lrp2 C A 2: 69,258,948 (GRCm39) D4581Y probably damaging Het
Lrrc7 T C 3: 157,840,968 (GRCm39) N1357D probably benign Het
Macf1 T C 4: 123,380,451 (GRCm39) probably benign Het
Mroh7 T C 4: 106,577,692 (GRCm39) T329A probably damaging Het
Mroh9 C T 1: 162,871,552 (GRCm39) probably null Het
Mta2 A G 19: 8,926,550 (GRCm39) probably benign Het
Myo3a A T 2: 22,271,906 (GRCm39) probably benign Het
Nrip2 A G 6: 128,384,352 (GRCm39) D153G probably benign Het
Nup133 T C 8: 124,644,156 (GRCm39) probably benign Het
Nup210 C T 6: 91,019,329 (GRCm39) V259M possibly damaging Het
Or10ak14 C T 4: 118,610,816 (GRCm39) M308I probably benign Het
Or5b112 A T 19: 13,319,211 (GRCm39) I30F probably benign Het
Or9i14 A T 19: 13,792,726 (GRCm39) V76D probably damaging Het
Otog C T 7: 45,939,113 (GRCm39) R2048C probably damaging Het
Pacc1 T C 1: 191,080,632 (GRCm39) V284A probably damaging Het
Paqr7 T C 4: 134,235,124 (GRCm39) L327P probably damaging Het
Parl A G 16: 20,105,676 (GRCm39) S249P probably damaging Het
Phc1 A G 6: 122,302,833 (GRCm39) I230T probably benign Het
Plpp1 A G 13: 112,971,477 (GRCm39) Y48C probably damaging Het
Pxdc1 A G 13: 34,812,870 (GRCm39) F194L probably benign Het
Rp1 A T 1: 4,416,159 (GRCm39) V1651D possibly damaging Het
Serpinb1c T A 13: 33,080,943 (GRCm39) R47* probably null Het
Sis T C 3: 72,853,915 (GRCm39) T521A possibly damaging Het
Slc16a9 A G 10: 70,118,308 (GRCm39) D209G probably benign Het
Slc26a4 A T 12: 31,575,567 (GRCm39) C706* probably null Het
Slc37a2 A G 9: 37,148,177 (GRCm39) V325A probably benign Het
Speg T A 1: 75,378,145 (GRCm39) D784E probably damaging Het
Sycp1 T C 3: 102,827,938 (GRCm39) I270V probably benign Het
Tatdn2 T A 6: 113,681,076 (GRCm39) F309I probably damaging Het
Tmem67 T C 4: 12,089,400 (GRCm39) probably benign Het
Trpm1 T A 7: 63,852,801 (GRCm39) probably null Het
Wrn T C 8: 33,782,714 (GRCm39) R496G probably damaging Het
Zfhx2 A G 14: 55,300,854 (GRCm39) V2299A probably benign Het
Zfp819 T A 7: 43,266,524 (GRCm39) S260T possibly 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
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'- AAGAGTAAGTCAGCCAGCACTGCC -3'
(R):5'- TTCTCAATGACCTGCTCGGGACAC -3'

Sequencing Primer
(F):5'- AGCACTGCCTTGCACTG -3'
(R):5'- CTAGGCTTCCCAGCTTTAGG -3'
Posted On 2014-02-18