Incidental Mutation 'R6341:Pitpnm1'
ID 514425
Institutional Source Beutler Lab
Gene Symbol Pitpnm1
Ensembl Gene ENSMUSG00000024851
Gene Name phosphatidylinositol transfer protein, membrane-associated 1
Synonyms RdgB, DRES9
MMRRC Submission 044495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6341 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 4150012-4163966 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 4152829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 79 (K79*)
Ref Sequence ENSEMBL: ENSMUSP00000120563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025779] [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000131265] [ENSMUST00000174149] [ENSMUST00000174514] [ENSMUST00000174799]
AlphaFold O35954
Predicted Effect probably benign
Transcript: ENSMUST00000025779
SMART Domains Protein: ENSMUSP00000025779
Gene: ENSMUSG00000024856

DomainStartEndE-ValueType
low complexity region 7 44 N/A INTRINSIC
Pfam:CDK2AP 58 126 1.4e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000049658
AA Change: K79*
SMART Domains Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: K79*

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
AA Change: K79*
SMART Domains Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: K79*

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: ENSMUST00000131265
AA Change: K79*
SMART Domains Protein: ENSMUSP00000120563
Gene: ENSMUSG00000024851
AA Change: K79*

DomainStartEndE-ValueType
Pfam:IP_trans 1 252 5e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172914
Predicted Effect probably benign
Transcript: ENSMUST00000174149
SMART Domains Protein: ENSMUSP00000134613
Gene: ENSMUSG00000024856

DomainStartEndE-ValueType
low complexity region 7 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174514
SMART Domains Protein: ENSMUSP00000134093
Gene: ENSMUSG00000024856

DomainStartEndE-ValueType
Pfam:CDK2AP 30 107 8.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174799
SMART Domains Protein: ENSMUSP00000133593
Gene: ENSMUSG00000024856

DomainStartEndE-ValueType
low complexity region 7 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,924,364 (GRCm39) D658G possibly damaging Het
Amz2 A G 11: 109,319,653 (GRCm39) H13R probably benign Het
Ankrd27 G T 7: 35,326,828 (GRCm39) probably null Het
Atp8a1 T C 5: 67,840,270 (GRCm39) T704A possibly damaging Het
Cabin1 A T 10: 75,494,573 (GRCm39) M1602K probably damaging Het
Ccdc74a T C 16: 17,465,978 (GRCm39) S105P probably damaging Het
Cdh26 T A 2: 178,113,366 (GRCm39) probably null Het
Cxcl10 T C 5: 92,496,072 (GRCm39) I22V probably benign Het
Cyp2c68 A C 19: 39,700,933 (GRCm39) V295G possibly damaging Het
Ddx10 A T 9: 53,115,551 (GRCm39) D594E probably benign Het
Ddx5 T C 11: 106,676,368 (GRCm39) probably null Het
Duox1 T C 2: 122,168,202 (GRCm39) I1109T probably damaging Het
Dusp15 T C 2: 152,788,204 (GRCm39) probably null Het
Ecel1 A G 1: 87,078,193 (GRCm39) probably null Het
Efcab6 T G 15: 83,820,139 (GRCm39) Q714P possibly damaging Het
Erc1 A G 6: 119,754,959 (GRCm39) L464P possibly damaging Het
Fam234a T A 17: 26,432,667 (GRCm39) H494L probably damaging Het
Gfpt1 T C 6: 87,065,127 (GRCm39) V694A probably damaging Het
Gli2 T C 1: 118,763,954 (GRCm39) D1399G probably damaging Het
Gm10110 T C 14: 90,134,144 (GRCm39) noncoding transcript Het
Hdac3 A G 18: 38,077,217 (GRCm39) L219P probably damaging Het
Hlcs A G 16: 94,032,022 (GRCm39) F52S probably damaging Het
Ints7 C A 1: 191,345,239 (GRCm39) T643K probably damaging Het
Ireb2 A G 9: 54,816,064 (GRCm39) I878M probably damaging Het
Itga3 A T 11: 94,946,677 (GRCm39) probably null Het
Lrfn5 T A 12: 61,890,368 (GRCm39) Y552* probably null Het
Mafb T C 2: 160,208,371 (GRCm39) T76A probably damaging Het
Man2b1 A T 8: 85,822,028 (GRCm39) S748C probably damaging Het
Mmp15 G T 8: 96,092,091 (GRCm39) probably null Het
Mmp17 A T 5: 129,679,019 (GRCm39) R335W probably damaging Het
Muc5ac A T 7: 141,355,229 (GRCm39) D1005V probably damaging Het
Myh3 T C 11: 66,973,822 (GRCm39) F165S probably benign Het
Nacc1 T C 8: 85,401,420 (GRCm39) D419G probably benign Het
Neb G A 2: 52,099,486 (GRCm39) S4545L probably damaging Het
Niban3 C T 8: 72,052,721 (GRCm39) P65L probably damaging Het
Npas2 T C 1: 39,339,768 (GRCm39) I106T probably damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or5b12 T C 19: 12,896,843 (GRCm39) T277A probably benign Het
Pde4dip T A 3: 97,602,227 (GRCm39) Q2283L probably benign Het
Phax C T 18: 56,706,173 (GRCm39) T21M possibly damaging Het
Pkd1 T A 17: 24,799,201 (GRCm39) F2807I probably damaging Het
Plekha4 C T 7: 45,190,572 (GRCm39) R427C probably damaging Het
Ptprj A T 2: 90,288,693 (GRCm39) F757L probably benign Het
Rad1 A G 15: 10,492,907 (GRCm39) D208G probably damaging Het
Rangrf T A 11: 68,863,538 (GRCm39) N156I probably benign Het
Rasl11b T C 5: 74,359,037 (GRCm39) S181P probably damaging Het
Rigi T A 4: 40,222,199 (GRCm39) probably null Het
Rlf G A 4: 121,006,557 (GRCm39) Q808* probably null Het
Rogdi G T 16: 4,831,241 (GRCm39) probably null Het
Sec24a A T 11: 51,608,603 (GRCm39) V573D probably damaging Het
Sorbs2 A G 8: 46,223,615 (GRCm39) T200A probably damaging Het
Srgap2 C T 1: 131,219,367 (GRCm39) R259H probably benign Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stt3a A T 9: 36,662,592 (GRCm39) H222Q probably damaging Het
Tcaf3 A T 6: 42,574,193 (GRCm39) D6E possibly damaging Het
Tdrd12 C T 7: 35,189,473 (GRCm39) R421H probably damaging Het
Top3b T C 16: 16,696,935 (GRCm39) M62T probably damaging Het
Trhr T G 15: 44,092,694 (GRCm39) Y310* probably null Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Usp34 A G 11: 23,331,353 (GRCm39) T1085A probably damaging Het
Vmn1r179 T A 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r31 A T 6: 58,448,995 (GRCm39) M290K probably benign Het
Wdr75 T C 1: 45,841,291 (GRCm39) probably null Het
Wnk1 A T 6: 119,925,546 (GRCm39) V1306D probably damaging Het
Xkr4 T C 1: 3,741,001 (GRCm39) T191A probably benign Het
Zc3h15 A G 2: 83,491,567 (GRCm39) E265G probably benign Het
Zcchc9 A G 13: 91,948,816 (GRCm39) F41S possibly damaging Het
Zfp251 T C 15: 76,738,337 (GRCm39) H247R probably damaging Het
Zfp433 A G 10: 81,555,957 (GRCm39) E152G probably damaging Het
Zfp770 A T 2: 114,027,240 (GRCm39) S276R 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
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
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'- TGCAAAGAATTAGAACCAACCTGAG -3'
(R):5'- ACTTCTCCACAAAGGGGCAG -3'

Sequencing Primer
(F):5'- TGAGGACCCCAGAATTTAAGC -3'
(R):5'- TCCACAAAGGGGCAGGTGTAC -3'
Posted On 2018-04-27