Incidental Mutation 'R7505:Plekhm1'
ID 585917
Institutional Source Beutler Lab
Gene Symbol Plekhm1
Ensembl Gene ENSMUSG00000034247
Gene Name pleckstrin homology domain containing, family M (with RUN domain) member 1
Synonyms AP162, B2, D330036J23Rik
MMRRC Submission 045578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 103255101-103303513 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 103270855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041272]
AlphaFold Q7TSI1
Predicted Effect probably null
Transcript: ENSMUST00000041272
SMART Domains Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247

DomainStartEndE-ValueType
RUN 117 180 3.36e-20 SMART
low complexity region 246 273 N/A INTRINSIC
low complexity region 336 350 N/A INTRINSIC
low complexity region 361 373 N/A INTRINSIC
Blast:DUF4206 448 543 2e-11 BLAST
PH 552 644 2.16e-9 SMART
low complexity region 658 674 N/A INTRINSIC
PH 702 797 2.15e-4 SMART
DUF4206 864 1068 7.51e-103 SMART
C1 1005 1058 2.72e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184350
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased trabecular bone mass and decreased bone resorption capacity of osteoclasts caused by defects in the peripheral positioning and secretion of lysosomes. Mice homozygous for a gene trap insertion do not exhibit any detectable phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T A 15: 91,033,260 (GRCm39) N719Y possibly damaging Het
Adamts2 T C 11: 50,687,347 (GRCm39) I1058T probably benign Het
Alb T A 5: 90,617,368 (GRCm39) Y356N probably damaging Het
Ankrd52 A G 10: 128,225,924 (GRCm39) N971D probably damaging Het
Atp6v1c2 A G 12: 17,347,724 (GRCm39) probably null Het
Atp6v1h A T 1: 5,194,561 (GRCm39) I247L probably benign Het
Cacna1s C T 1: 136,013,187 (GRCm39) R593* probably null Het
Cacna2d3 C T 14: 28,767,501 (GRCm39) probably null Het
Cdh15 G A 8: 123,575,231 (GRCm39) G2D probably benign Het
Cebpe G T 14: 54,948,113 (GRCm39) N243K probably damaging Het
Celf2 A T 2: 6,629,511 (GRCm39) M136K probably damaging Het
Cep290 A G 10: 100,352,127 (GRCm39) I778V probably benign Het
Col22a1 A T 15: 71,671,248 (GRCm39) C1592* probably null Het
Cpne2 A T 8: 95,275,094 (GRCm39) N34I possibly damaging Het
Cps1 A G 1: 67,219,240 (GRCm39) N860S probably benign Het
Disp2 T G 2: 118,621,569 (GRCm39) L767R probably damaging Het
Eif1ad19 A T 12: 87,740,270 (GRCm39) N96K probably benign Het
Evpl A G 11: 116,117,813 (GRCm39) probably null Het
F7 A T 8: 13,078,745 (GRCm39) N59Y possibly damaging Het
Fam98a A T 17: 75,845,233 (GRCm39) H504Q unknown Het
Fbxo4 G A 15: 4,000,903 (GRCm39) R270C probably benign Het
Fcgbp T C 7: 27,789,099 (GRCm39) V555A probably damaging Het
Fgf4 T C 7: 144,415,498 (GRCm39) V86A possibly damaging Het
Fpgt G T 3: 154,792,413 (GRCm39) A538D possibly damaging Het
Gars1 A G 6: 55,029,162 (GRCm39) T181A probably benign Het
Gask1a G C 9: 121,805,483 (GRCm39) G425R probably benign Het
Gbx2 A G 1: 89,856,455 (GRCm39) S312P probably benign Het
Gm29735 C T 7: 141,710,327 (GRCm39) C175Y unknown Het
Gm7995 A G 14: 42,132,314 (GRCm39) T49A Het
Hnrnpk A G 13: 58,547,783 (GRCm39) M27T probably benign Het
Idh3b A G 2: 130,126,147 (GRCm39) S20P probably benign Het
Idh3b G C 2: 130,126,153 (GRCm39) R18G probably benign Het
Ighg2b T A 12: 113,268,600 (GRCm39) T354S Het
Lrfn2 T A 17: 49,403,479 (GRCm39) M534K probably benign Het
Mcpt8 G A 14: 56,320,548 (GRCm39) A127V probably benign Het
Msi2 A T 11: 88,304,743 (GRCm39) N176K possibly damaging Het
Mtr G T 13: 12,236,362 (GRCm39) D621E probably benign Het
Nlrp5 T A 7: 23,106,925 (GRCm39) I63N probably benign Het
Nol6 T C 4: 41,120,352 (GRCm39) D455G probably damaging Het
Nrde2 A T 12: 100,098,757 (GRCm39) S637T probably benign Het
Ntn4 G T 10: 93,543,146 (GRCm39) G291W probably damaging Het
Or13a28 C A 7: 140,217,965 (GRCm39) T117K probably damaging Het
Or4d10 T A 19: 12,051,969 (GRCm39) E9V possibly damaging Het
Otof T A 5: 30,528,364 (GRCm39) T1865S probably benign Het
Plec A T 15: 76,065,394 (GRCm39) S1559T unknown Het
Plin4 T A 17: 56,416,357 (GRCm39) Q49L possibly damaging Het
Polrmt A G 10: 79,573,717 (GRCm39) F995L probably benign Het
Polrmt A G 10: 79,579,010 (GRCm39) probably null Het
Pramel16 A G 4: 143,676,273 (GRCm39) I277T possibly damaging Het
Pramel28 C T 4: 143,691,556 (GRCm39) C389Y probably benign Het
Rims1 T C 1: 22,573,077 (GRCm39) T375A possibly damaging Het
Ryr3 A T 2: 112,542,774 (GRCm39) M3145K probably damaging Het
S100a11 A G 3: 93,433,339 (GRCm39) K61R probably benign Het
Sar1a A G 10: 61,527,073 (GRCm39) T164A probably benign Het
Sec31b C T 19: 44,532,146 (GRCm39) A25T probably damaging Het
Smpd2 A G 10: 41,363,350 (GRCm39) V371A probably benign Het
Speer1g T A 5: 11,181,135 (GRCm39) Y141N possibly damaging Het
Spg11 A T 2: 121,905,832 (GRCm39) L1271* probably null Het
Svep1 T C 4: 58,115,862 (GRCm39) T944A possibly damaging Het
Taf6 A T 5: 138,178,207 (GRCm39) C431* probably null Het
Tdrd6 A G 17: 43,938,570 (GRCm39) V826A not run Het
Tent4a G T 13: 69,655,047 (GRCm39) P476T probably damaging Het
Tmem132a A G 19: 10,836,037 (GRCm39) V831A probably damaging Het
Tnfrsf8 T G 4: 144,995,685 (GRCm39) D458A probably damaging Het
Trpv5 A G 6: 41,651,590 (GRCm39) I196T probably damaging Het
Ttn T A 2: 76,608,898 (GRCm39) D17706V probably damaging Het
Uimc1 T C 13: 55,223,444 (GRCm39) Y276C probably damaging Het
Usp24 T A 4: 106,236,276 (GRCm39) I988K probably damaging Het
Vmn2r74 T A 7: 85,606,279 (GRCm39) R356* probably null Het
Wdr37 A T 13: 8,869,971 (GRCm39) H429Q probably damaging Het
Wwc2 A T 8: 48,333,185 (GRCm39) L277Q probably damaging Het
Zscan12 T A 13: 21,552,756 (GRCm39) N193K possibly damaging Het
Other mutations in Plekhm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Plekhm1 APN 11 103,285,609 (GRCm39) missense possibly damaging 0.54
IGL01876:Plekhm1 APN 11 103,267,577 (GRCm39) missense probably damaging 1.00
IGL02159:Plekhm1 APN 11 103,271,057 (GRCm39) missense probably benign 0.04
IGL02404:Plekhm1 APN 11 103,285,824 (GRCm39) missense probably benign 0.18
IGL02537:Plekhm1 APN 11 103,288,018 (GRCm39) missense probably damaging 1.00
IGL02568:Plekhm1 APN 11 103,285,876 (GRCm39) missense probably damaging 1.00
IGL02660:Plekhm1 APN 11 103,264,920 (GRCm39) splice site probably benign
IGL03130:Plekhm1 APN 11 103,268,207 (GRCm39) missense probably benign 0.17
IGL03208:Plekhm1 APN 11 103,267,596 (GRCm39) missense probably benign 0.00
R0442:Plekhm1 UTSW 11 103,288,000 (GRCm39) missense possibly damaging 0.45
R0491:Plekhm1 UTSW 11 103,285,602 (GRCm39) missense probably benign 0.05
R0520:Plekhm1 UTSW 11 103,285,770 (GRCm39) missense probably benign 0.17
R0964:Plekhm1 UTSW 11 103,285,908 (GRCm39) nonsense probably null
R1189:Plekhm1 UTSW 11 103,277,888 (GRCm39) missense probably benign 0.00
R1501:Plekhm1 UTSW 11 103,277,888 (GRCm39) missense probably benign 0.00
R1697:Plekhm1 UTSW 11 103,267,710 (GRCm39) missense probably damaging 1.00
R1781:Plekhm1 UTSW 11 103,285,682 (GRCm39) missense probably damaging 1.00
R1873:Plekhm1 UTSW 11 103,264,824 (GRCm39) missense probably benign 0.01
R2087:Plekhm1 UTSW 11 103,287,851 (GRCm39) critical splice donor site probably null
R2215:Plekhm1 UTSW 11 103,267,811 (GRCm39) missense probably damaging 1.00
R2271:Plekhm1 UTSW 11 103,277,948 (GRCm39) missense probably benign 0.00
R4256:Plekhm1 UTSW 11 103,261,760 (GRCm39) missense probably damaging 0.98
R4393:Plekhm1 UTSW 11 103,267,791 (GRCm39) missense possibly damaging 0.51
R4526:Plekhm1 UTSW 11 103,286,130 (GRCm39) missense probably damaging 0.97
R5119:Plekhm1 UTSW 11 103,278,141 (GRCm39) missense possibly damaging 0.62
R5975:Plekhm1 UTSW 11 103,267,517 (GRCm39) missense possibly damaging 0.49
R6389:Plekhm1 UTSW 11 103,257,720 (GRCm39) missense probably benign 0.21
R6454:Plekhm1 UTSW 11 103,268,208 (GRCm39) missense probably damaging 1.00
R6755:Plekhm1 UTSW 11 103,278,069 (GRCm39) missense possibly damaging 0.65
R6830:Plekhm1 UTSW 11 103,267,715 (GRCm39) missense probably damaging 0.97
R7039:Plekhm1 UTSW 11 103,286,054 (GRCm39) missense probably damaging 1.00
R7066:Plekhm1 UTSW 11 103,261,814 (GRCm39) missense possibly damaging 0.47
R7149:Plekhm1 UTSW 11 103,285,742 (GRCm39) missense probably damaging 0.98
R7349:Plekhm1 UTSW 11 103,278,160 (GRCm39) missense probably damaging 0.98
R7792:Plekhm1 UTSW 11 103,287,886 (GRCm39) missense probably damaging 0.99
R7867:Plekhm1 UTSW 11 103,271,153 (GRCm39) missense probably damaging 1.00
R8124:Plekhm1 UTSW 11 103,257,775 (GRCm39) missense probably benign 0.02
R8194:Plekhm1 UTSW 11 103,285,886 (GRCm39) missense possibly damaging 0.68
R8725:Plekhm1 UTSW 11 103,258,444 (GRCm39) missense probably damaging 1.00
R8727:Plekhm1 UTSW 11 103,258,444 (GRCm39) missense probably damaging 1.00
R8734:Plekhm1 UTSW 11 103,285,778 (GRCm39) missense probably damaging 1.00
R8927:Plekhm1 UTSW 11 103,268,039 (GRCm39) missense probably benign 0.04
R8928:Plekhm1 UTSW 11 103,268,039 (GRCm39) missense probably benign 0.04
R9681:Plekhm1 UTSW 11 103,258,950 (GRCm39) missense possibly damaging 0.82
X0058:Plekhm1 UTSW 11 103,268,192 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAAAGTCTGGCACTGCTCTAG -3'
(R):5'- AGAAAGAGCTGTTCCTTGGG -3'

Sequencing Primer
(F):5'- TCTAGTGAGCTAGCAAGTCCG -3'
(R):5'- TTCCTTGGGGGCATTAGACAAAG -3'
Posted On 2019-10-18