Incidental Mutation 'R8462:Pitpnm1'
ID 656628
Institutional Source Beutler Lab
Gene Symbol Pitpnm1
Ensembl Gene ENSMUSG00000024851
Gene Name phosphatidylinositol transfer protein, membrane-associated 1
Synonyms RdgB, DRES9
MMRRC Submission 067906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8462 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4150012-4163966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4155135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 321 (H321L)
Ref Sequence ENSEMBL: ENSMUSP00000097599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000131265]
AlphaFold O35954
Predicted Effect probably benign
Transcript: ENSMUST00000049658
AA Change: H321L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: H321L

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: H321L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: H321L

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: ENSMUST00000131265
SMART Domains Protein: ENSMUSP00000120563
Gene: ENSMUSG00000024851

DomainStartEndE-ValueType
Pfam:IP_trans 1 252 5e-147 PFAM
Meta Mutation Damage Score 0.1520 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,074 (GRCm39) V103A possibly damaging Het
Abcb11 T C 2: 69,104,499 (GRCm39) N729S probably benign Het
Ap2a2 T A 7: 141,210,394 (GRCm39) N883K probably damaging Het
Atr T C 9: 95,749,579 (GRCm39) I464T probably benign Het
Atrn T A 2: 130,777,504 (GRCm39) H184Q probably damaging Het
Bmp5 A G 9: 75,746,874 (GRCm39) D244G probably benign Het
Celsr2 C A 3: 108,320,167 (GRCm39) E882* probably null Het
Cfap58 T A 19: 47,972,089 (GRCm39) V673E possibly damaging Het
Chl1 A G 6: 103,706,130 (GRCm39) N1155S probably benign Het
Colgalt2 C A 1: 152,378,823 (GRCm39) H416Q probably damaging Het
Dab1 C T 4: 104,561,404 (GRCm39) L230F probably benign Het
Dixdc1 G T 9: 50,622,079 (GRCm39) S84* probably null Het
Dnah8 A G 17: 30,875,603 (GRCm39) D475G probably damaging Het
Egr2 T A 10: 67,374,173 (GRCm39) N54K probably null Het
Grm3 T C 5: 9,562,365 (GRCm39) D495G probably benign Het
Kif1b G A 4: 149,266,797 (GRCm39) T1629I probably benign Het
Klf2 A T 8: 73,073,373 (GRCm39) N59I probably benign Het
Krt86 T C 15: 101,377,284 (GRCm39) V436A probably benign Het
Lrrk2 T C 15: 91,615,680 (GRCm39) V838A probably benign Het
Ltbp1 T C 17: 75,620,069 (GRCm39) S786P probably damaging Het
Matk C G 10: 81,097,859 (GRCm39) R315G probably damaging Het
Meikin T C 11: 54,290,666 (GRCm39) V249A probably benign Het
Mrnip A G 11: 50,090,654 (GRCm39) R273G probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nsd1 T A 13: 55,446,189 (GRCm39) probably null Het
Plekhm2 T C 4: 141,367,130 (GRCm39) Y170C probably damaging Het
Ralgapa1 T C 12: 55,723,303 (GRCm39) D2197G possibly damaging Het
Rmdn2 C T 17: 79,978,053 (GRCm39) T338M probably damaging Het
Rps10 A G 17: 27,853,208 (GRCm39) S54P probably damaging Het
S100a11 T C 3: 93,433,422 (GRCm39) S89P probably benign Het
Sh3yl1 T C 12: 30,992,072 (GRCm39) Y176H probably damaging Het
Sppl2c G T 11: 104,077,532 (GRCm39) A111S possibly damaging Het
Stab2 T C 10: 86,803,598 (GRCm39) E317G possibly damaging Het
Stim1 A G 7: 102,076,324 (GRCm39) E425G probably damaging Het
Stxbp1 C T 2: 32,707,293 (GRCm39) probably null Het
Traf6 G A 2: 101,527,801 (GRCm39) R517Q probably damaging Het
Ttn A G 2: 76,804,387 (GRCm39) V295A probably damaging Het
Vps45 A T 3: 95,941,091 (GRCm39) D383E possibly damaging Het
Zfp984 A G 4: 147,839,796 (GRCm39) C352R 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
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
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'- GCTAAGTGCAACACTGGCAG -3'
(R):5'- AAATGTGGCTTCTGTGCTGAC -3'

Sequencing Primer
(F):5'- ACTGGCAGTGAGGGACC -3'
(R):5'- GGGCATCAAAGAATTCTTCCTCGG -3'
Posted On 2021-01-18