Incidental Mutation 'R5249:Pitpnm1'
ID 398888
Institutional Source Beutler Lab
Gene Symbol Pitpnm1
Ensembl Gene ENSMUSG00000024851
Gene Name phosphatidylinositol transfer protein, membrane-associated 1
Synonyms RdgB, DRES9
MMRRC Submission 042820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5249 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4150012-4163966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4158130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 573 (D573E)
Ref Sequence ENSEMBL: ENSMUSP00000097599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000131265]
AlphaFold O35954
Predicted Effect probably damaging
Transcript: ENSMUST00000049658
AA Change: D573E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: D573E

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: D573E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: D573E

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 noncoding transcript
Transcript: ENSMUST00000125596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139427
Predicted Effect probably benign
Transcript: ENSMUST00000131265
SMART Domains Protein: ENSMUSP00000120563
Gene: ENSMUSG00000024851

DomainStartEndE-ValueType
Pfam:IP_trans 1 252 5e-147 PFAM
Meta Mutation Damage Score 0.3602 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (93/95)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,284 (GRCm39) H148R probably damaging Het
Acrbp A G 6: 125,037,885 (GRCm39) D394G probably damaging Het
Adam18 T C 8: 25,115,868 (GRCm39) T609A probably benign Het
Adam25 T A 8: 41,208,991 (GRCm39) N752K probably benign Het
Ano6 A C 15: 95,811,469 (GRCm39) S176R probably benign Het
Ano7 T C 1: 93,302,918 (GRCm39) S19P probably benign Het
Ap1b1 A G 11: 4,976,364 (GRCm39) E437G probably damaging Het
Arfgap2 T A 2: 91,095,982 (GRCm39) C46* probably null Het
Arhgef26 T A 3: 62,247,981 (GRCm39) L355Q probably damaging Het
B4galnt4 C T 7: 140,644,983 (GRCm39) T219I probably damaging Het
Bap1 C T 14: 30,979,243 (GRCm39) probably benign Het
Catip T G 1: 74,401,954 (GRCm39) L43R probably damaging Het
Ccdc177 G A 12: 80,805,282 (GRCm39) R331C unknown Het
Cep85l T C 10: 53,195,690 (GRCm39) probably null Het
Cfap206 T A 4: 34,714,502 (GRCm39) Q398L probably benign Het
Clec18a A G 8: 111,800,368 (GRCm39) C352R probably damaging Het
Clic6 A T 16: 92,336,339 (GRCm39) Y549F probably damaging Het
Cpne9 C T 6: 113,270,034 (GRCm39) probably benign Het
Cyb5r3 A C 15: 83,042,836 (GRCm39) probably benign Het
Dnah6 C T 6: 73,090,471 (GRCm39) R2293K probably damaging Het
Dnmbp C A 19: 43,890,879 (GRCm39) R296L probably damaging Het
Dtwd1 C A 2: 125,996,694 (GRCm39) Q60K probably benign Het
Esyt1 C A 10: 128,352,443 (GRCm39) V723L probably benign Het
Fbxo42 T C 4: 140,926,335 (GRCm39) L339P probably damaging Het
Furin A T 7: 80,043,169 (GRCm39) N347K probably damaging Het
Fzd7 T C 1: 59,522,522 (GRCm39) M135T probably damaging Het
Garin1b A G 6: 29,323,896 (GRCm39) D207G probably damaging Het
Hlf A G 11: 90,278,632 (GRCm39) M144T probably benign Het
Hyal5 C T 6: 24,876,648 (GRCm39) Q174* probably null Het
Kcnb1 T A 2: 166,947,103 (GRCm39) M582L possibly damaging Het
Kdm5d T C Y: 916,692 (GRCm39) Y391H probably damaging Het
Khdc4 T A 3: 88,604,032 (GRCm39) I283N probably damaging Het
Kif21b C T 1: 136,096,966 (GRCm39) T1297M probably damaging Het
Krt8 T G 15: 101,906,875 (GRCm39) N317T possibly damaging Het
Lctl G T 9: 64,045,196 (GRCm39) V372L probably benign Het
Lig1 C T 7: 13,042,432 (GRCm39) H822Y possibly damaging Het
Lrrc4b A G 7: 44,111,988 (GRCm39) D620G possibly damaging Het
Mboat4 C T 8: 34,582,275 (GRCm39) H10Y probably benign Het
Med1 A T 11: 98,048,066 (GRCm39) M910K probably benign Het
Mia2 A T 12: 59,154,911 (GRCm39) D209V probably damaging Het
Mpp4 C T 1: 59,184,017 (GRCm39) probably benign Het
Mrgprb1 A T 7: 48,097,225 (GRCm39) V229E possibly damaging Het
Mtor T A 4: 148,548,189 (GRCm39) C485S probably damaging Het
Mx1 T C 16: 97,258,628 (GRCm39) D23G probably damaging Het
Myrfl T C 10: 116,619,138 (GRCm39) D740G probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nav2 G A 7: 49,185,661 (GRCm39) V874I probably damaging Het
Ntrk3 A T 7: 78,110,914 (GRCm39) N262K possibly damaging Het
Opa1 A T 16: 29,437,077 (GRCm39) D699V probably damaging Het
Or10u4 C T 10: 129,802,078 (GRCm39) A164T probably benign Het
Or8b51 A G 9: 38,569,374 (GRCm39) C105R possibly damaging Het
Otud7a A G 7: 63,407,181 (GRCm39) N495D possibly damaging Het
Pcsk9 T C 4: 106,320,950 (GRCm39) D53G probably benign Het
Pdcd5 A G 7: 35,346,421 (GRCm39) probably benign Het
Phf21a C T 2: 92,058,822 (GRCm39) P28L probably damaging Het
Ppp1r35 C T 5: 137,777,406 (GRCm39) probably benign Het
Ptprq T C 10: 107,535,496 (GRCm39) Q423R probably damaging Het
Pum1 A T 4: 130,490,125 (GRCm39) Y699F probably benign Het
Rabgef1 A G 5: 130,241,841 (GRCm39) D415G probably benign Het
Rapgef6 A G 11: 54,413,943 (GRCm39) E23G probably benign Het
Rpia G T 6: 70,760,563 (GRCm39) C121* probably null Het
Sanbr A G 11: 23,525,483 (GRCm39) *719Q probably null Het
Serpinb13 T A 1: 106,926,427 (GRCm39) W201R probably damaging Het
Sh3bp4 T C 1: 89,065,456 (GRCm39) C17R probably damaging Het
Sh3d21 A G 4: 126,055,858 (GRCm39) probably benign Het
Slamf6 A C 1: 171,764,249 (GRCm39) N214T probably damaging Het
Slc7a2 T C 8: 41,361,130 (GRCm39) Y365H possibly damaging Het
Sox18 T C 2: 181,312,971 (GRCm39) probably null Het
Spink7 A T 18: 62,725,507 (GRCm39) F79I possibly damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Sspo A T 6: 48,470,244 (GRCm39) H4561L probably damaging Het
Tcaf1 T C 6: 42,653,793 (GRCm39) K700R probably benign Het
Tcf25 G T 8: 124,115,372 (GRCm39) R203L probably damaging Het
Tcp11 T C 17: 28,290,757 (GRCm39) I201V possibly damaging Het
Tex2 T C 11: 106,437,615 (GRCm39) D685G unknown Het
Themis G T 10: 28,637,195 (GRCm39) E100* probably null Het
Tmem52b G A 6: 129,491,221 (GRCm39) probably null Het
Tnr C T 1: 159,512,226 (GRCm39) probably benign Het
Tox3 T C 8: 90,975,444 (GRCm39) I396V probably benign Het
Tpm2 T A 4: 43,514,828 (GRCm39) E269V probably benign Het
Tulp1 C T 17: 28,581,651 (GRCm39) probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Ube2j2 A C 4: 156,033,515 (GRCm39) K30Q possibly damaging Het
Usp19 T A 9: 108,369,807 (GRCm39) M1K probably null Het
Vmn2r52 C A 7: 9,910,197 (GRCm39) R6L probably benign Het
Zbed4 G A 15: 88,665,290 (GRCm39) V453M probably benign Het
Zfp319 T C 8: 96,055,099 (GRCm39) E368G probably benign Het
Zfp366 A C 13: 99,366,117 (GRCm39) E426A probably damaging Het
Zfp687 A T 3: 94,916,777 (GRCm39) I783N 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
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
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'- CATGATGGGGATAGCCTGTC -3'
(R):5'- AGACTCAACTTTGCAGCGG -3'

Sequencing Primer
(F):5'- TCATCGGAGGGCACAGGTTTC -3'
(R):5'- CAGAGAGGCCATATTCCA -3'
Posted On 2016-07-06