Incidental Mutation 'R7663:Plekhm3'
ID 591681
Institutional Source Beutler Lab
Gene Symbol Plekhm3
Ensembl Gene ENSMUSG00000051344
Gene Name pleckstrin homology domain containing, family M, member 3
Synonyms Plekhm1l, A230102O09Rik, 9430067K14Rik
MMRRC Submission 045738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R7663 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 64828279-64995983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 64922367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 603 (R603W)
Ref Sequence ENSEMBL: ENSMUSP00000095320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097713] [ENSMUST00000139649]
AlphaFold Q8BM47
Predicted Effect probably damaging
Transcript: ENSMUST00000097713
AA Change: R603W

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: R603W

DomainStartEndE-ValueType
low complexity region 184 195 N/A INTRINSIC
PH 213 311 4.86e-3 SMART
PH 362 458 7.88e-12 SMART
low complexity region 489 503 N/A INTRINSIC
DUF4206 529 732 2.73e-114 SMART
C1 670 722 3.9e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139649
AA Change: R603W

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: R603W

DomainStartEndE-ValueType
low complexity region 184 195 N/A INTRINSIC
PH 213 311 4.86e-3 SMART
PH 362 458 7.88e-12 SMART
low complexity region 489 503 N/A INTRINSIC
DUF4206 529 732 2.73e-114 SMART
C1 670 722 3.9e-2 SMART
Meta Mutation Damage Score 0.3328 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,887 (GRCm39) T359A probably damaging Het
Abcd4 A C 12: 84,652,903 (GRCm39) V433G probably damaging Het
Acot5 C A 12: 84,116,355 (GRCm39) R39S probably damaging Het
Actl9 T C 17: 33,652,443 (GRCm39) S168P probably damaging Het
Adam15 A G 3: 89,253,113 (GRCm39) L237P probably damaging Het
Ahctf1 T C 1: 179,617,879 (GRCm39) Q289R possibly damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Asah1 C T 8: 41,794,664 (GRCm39) R385Q probably damaging Het
Bicc1 T C 10: 70,782,420 (GRCm39) T607A probably benign Het
Ccdc88a T C 11: 29,448,614 (GRCm39) probably null Het
Cdhr4 A T 9: 107,875,971 (GRCm39) R750* probably null Het
Cep290 T A 10: 100,390,398 (GRCm39) probably null Het
Clca3a1 T A 3: 144,442,797 (GRCm39) D749V probably benign Het
Clcn1 C T 6: 42,286,997 (GRCm39) P685S possibly damaging Het
Clk1 A G 1: 58,460,319 (GRCm39) S104P probably damaging Het
Commd10 T C 18: 47,219,323 (GRCm39) V172A probably benign Het
Cyp2c69 A T 19: 39,865,953 (GRCm39) C213* probably null Het
Dnah14 A T 1: 181,579,720 (GRCm39) probably null Het
Dock2 C T 11: 34,611,854 (GRCm39) G170R probably damaging Het
Fam186a T G 15: 99,842,950 (GRCm39) H1098P probably benign Het
Flt1 T C 5: 147,591,930 (GRCm39) T511A probably benign Het
Fmo1 A C 1: 162,663,866 (GRCm39) I221S possibly damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Ginm1 A T 10: 7,651,126 (GRCm39) S93R possibly damaging Het
Gm3629 A C 14: 17,875,685 (GRCm39) probably null Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gys2 C T 6: 142,405,211 (GRCm39) R192H probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hectd4 C A 5: 121,462,094 (GRCm39) A987E probably benign Het
Herc2 G A 7: 55,786,433 (GRCm39) V1593I probably benign Het
Ighv14-3 T C 12: 114,023,554 (GRCm39) T88A probably benign Het
Jag2 T C 12: 112,877,286 (GRCm39) D695G probably damaging Het
Kazn A T 4: 141,832,209 (GRCm39) D663E Het
Krt79 T C 15: 101,840,278 (GRCm39) D306G probably damaging Het
Lama1 T A 17: 68,087,875 (GRCm39) C1498S Het
Ldb1 T C 19: 46,023,963 (GRCm39) Y141C probably damaging Het
Lmnb2 T A 10: 80,740,573 (GRCm39) E336V probably damaging Het
Lrp1b T A 2: 42,543,047 (GRCm39) probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 T A 14: 103,429,045 (GRCm39) Y2377F probably damaging Het
Neb T A 2: 52,120,059 (GRCm39) Y721F Het
Ntf3 A G 6: 126,078,778 (GRCm39) S243P probably damaging Het
Or4c103 G C 2: 88,513,696 (GRCm39) P127A probably damaging Het
Or52s1 T C 7: 102,861,652 (GRCm39) M195T possibly damaging Het
Or5b121 G T 19: 13,507,809 (GRCm39) M301I probably damaging Het
Pdk1 G A 2: 71,705,742 (GRCm39) probably null Het
Pdzd2 A G 15: 12,373,289 (GRCm39) V2282A probably damaging Het
Piwil1 T C 5: 128,824,497 (GRCm39) F517L probably benign Het
Plch2 T A 4: 155,075,619 (GRCm39) T738S probably damaging Het
Pltp A T 2: 164,698,926 (GRCm39) probably null Het
Prdm4 A G 10: 85,735,145 (GRCm39) S666P probably damaging Het
Psmb3 G T 11: 97,603,318 (GRCm39) R177L probably damaging Het
Ralgapa2 A G 2: 146,260,335 (GRCm39) V764A probably benign Het
Rel T C 11: 23,692,713 (GRCm39) D440G probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Rims2 T A 15: 39,370,422 (GRCm39) V952E probably damaging Het
Samd4b G T 7: 28,122,925 (GRCm39) C44* probably null Het
Slamf8 C A 1: 172,415,605 (GRCm39) V78F possibly damaging Het
Slc35a1 A T 4: 34,675,493 (GRCm39) N111K possibly damaging Het
Slc7a5 A T 8: 122,614,274 (GRCm39) Y264* probably null Het
Srsf2 T C 11: 116,743,120 (GRCm39) S134G unknown Het
Stag1 T A 9: 100,620,191 (GRCm39) M98K probably damaging Het
Trib1 T C 15: 59,523,562 (GRCm39) S199P probably damaging Het
Txnip T C 3: 96,467,153 (GRCm39) S276P possibly damaging Het
Vmn1r194 C T 13: 22,428,911 (GRCm39) T176I not run Het
Vmn1r222 A G 13: 23,416,601 (GRCm39) L204P possibly damaging Het
Vmn2r63 T A 7: 42,576,466 (GRCm39) H449L probably benign Het
Vmn2r83 T A 10: 79,314,956 (GRCm39) N401K probably damaging Het
Vmn2r87 T A 10: 130,308,054 (GRCm39) H728L probably damaging Het
Zfp69 G A 4: 120,792,323 (GRCm39) A151V probably benign Het
Zfp738 A G 13: 67,831,520 (GRCm39) probably null Het
Zfp974 T C 7: 27,611,110 (GRCm39) E205G possibly damaging Het
Other mutations in Plekhm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Plekhm3 APN 1 64,960,991 (GRCm39) missense probably damaging 1.00
IGL01732:Plekhm3 APN 1 64,961,407 (GRCm39) missense probably benign 0.44
IGL02422:Plekhm3 APN 1 64,961,025 (GRCm39) nonsense probably null
IGL02724:Plekhm3 APN 1 64,834,276 (GRCm39) missense probably damaging 0.97
IGL03226:Plekhm3 APN 1 64,960,959 (GRCm39) missense possibly damaging 0.58
IGL03250:Plekhm3 APN 1 64,977,206 (GRCm39) missense possibly damaging 0.65
R0124:Plekhm3 UTSW 1 64,960,910 (GRCm39) missense probably damaging 0.99
R1336:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R1467:Plekhm3 UTSW 1 64,932,041 (GRCm39) missense probably damaging 1.00
R1467:Plekhm3 UTSW 1 64,932,041 (GRCm39) missense probably damaging 1.00
R1560:Plekhm3 UTSW 1 64,976,976 (GRCm39) missense probably benign 0.03
R1901:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R2328:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R2432:Plekhm3 UTSW 1 64,977,015 (GRCm39) missense probably damaging 1.00
R2568:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R3023:Plekhm3 UTSW 1 64,976,940 (GRCm39) small deletion probably benign
R4496:Plekhm3 UTSW 1 64,900,395 (GRCm39) missense probably damaging 1.00
R4529:Plekhm3 UTSW 1 64,976,984 (GRCm39) missense probably benign 0.14
R4682:Plekhm3 UTSW 1 64,977,086 (GRCm39) missense possibly damaging 0.94
R4969:Plekhm3 UTSW 1 64,977,078 (GRCm39) missense probably damaging 1.00
R5347:Plekhm3 UTSW 1 64,859,149 (GRCm39) missense probably damaging 1.00
R5553:Plekhm3 UTSW 1 64,961,045 (GRCm39) missense possibly damaging 0.89
R5583:Plekhm3 UTSW 1 64,977,145 (GRCm39) nonsense probably null
R5953:Plekhm3 UTSW 1 64,977,054 (GRCm39) missense probably damaging 0.98
R6319:Plekhm3 UTSW 1 64,961,093 (GRCm39) missense probably benign 0.20
R6970:Plekhm3 UTSW 1 64,931,912 (GRCm39) missense possibly damaging 0.80
R7014:Plekhm3 UTSW 1 64,922,429 (GRCm39) missense probably damaging 1.00
R7408:Plekhm3 UTSW 1 64,977,143 (GRCm39) missense probably benign 0.02
R7570:Plekhm3 UTSW 1 64,977,065 (GRCm39) missense probably damaging 1.00
R7719:Plekhm3 UTSW 1 64,960,901 (GRCm39) missense probably benign 0.33
R7894:Plekhm3 UTSW 1 64,960,874 (GRCm39) missense probably benign
R8808:Plekhm3 UTSW 1 64,922,355 (GRCm39) missense possibly damaging 0.96
R9069:Plekhm3 UTSW 1 64,960,802 (GRCm39) missense probably benign 0.02
R9296:Plekhm3 UTSW 1 64,961,639 (GRCm39) missense probably benign 0.11
R9788:Plekhm3 UTSW 1 64,961,422 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TTGAAATGAGCCACGGACAG -3'
(R):5'- CTGTGTGGTTTCTAGGCAAAGC -3'

Sequencing Primer
(F):5'- CCACGGACAGAGGTGGTC -3'
(R):5'- TTTCTAGGCAAAGCAGACAGATGTG -3'
Posted On 2019-11-12