Incidental Mutation 'R7068:Mtmr12'
ID 548704
Institutional Source Beutler Lab
Gene Symbol Mtmr12
Ensembl Gene ENSMUSG00000039458
Gene Name myotubularin related protein 12
Synonyms Pip3ap, C730015A02Rik
MMRRC Submission 045164-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12205028-12274496 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 12257670 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 278 (M278R)
Ref Sequence ENSEMBL: ENSMUSP00000041227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038172] [ENSMUST00000071993] [ENSMUST00000174160] [ENSMUST00000174418]
AlphaFold Q80TA6
Predicted Effect probably null
Transcript: ENSMUST00000038172
AA Change: M278R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: M278R

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 33 42 N/A INTRINSIC
Pfam:Myotub-related 182 501 7.6e-55 PFAM
Pfam:3-PAP 559 687 3.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071993
SMART Domains Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Myotub-related 17 193 7.8e-53 PFAM
Pfam:3-PAP 249 380 8.8e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174160
AA Change: M278R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458
AA Change: M278R

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 33 42 N/A INTRINSIC
Pfam:Myotub-related 182 501 3.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174418
SMART Domains Protein: ENSMUSP00000133285
Gene: ENSMUSG00000039458

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 33 42 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,622,580 (GRCm38) H24R probably benign Het
Ago2 A T 15: 73,146,450 (GRCm38) F46L probably damaging Het
Amd1 A G 10: 40,290,512 (GRCm38) F123L probably benign Het
Arhgef10 T C 8: 14,958,639 (GRCm38) F546L probably damaging Het
Asic2 G A 11: 81,152,255 (GRCm38) H71Y probably benign Het
Asphd1 A G 7: 126,948,678 (GRCm38) V151A probably benign Het
Best3 T C 10: 116,988,638 (GRCm38) V3A probably damaging Het
C4b A G 17: 34,733,477 (GRCm38) L1196P probably damaging Het
Cd22 A G 7: 30,878,079 (GRCm38) V3A probably benign Het
Cdkl3 T C 11: 52,011,327 (GRCm38) probably null Het
Clcnka A T 4: 141,387,110 (GRCm38) V631E probably damaging Het
Cmya5 A G 13: 93,092,697 (GRCm38) V1961A possibly damaging Het
Dnah14 A G 1: 181,769,790 (GRCm38) E3559G probably benign Het
Emsy A T 7: 98,610,761 (GRCm38) D39E probably benign Het
Fbxl16 G T 17: 25,819,511 (GRCm38) V477F possibly damaging Het
Flt1 A T 5: 147,673,634 (GRCm38) I393N probably damaging Het
Gabra4 A T 5: 71,572,059 (GRCm38) N433K probably benign Het
Gatad1 T C 5: 3,643,540 (GRCm38) R210G probably benign Het
Ghsr T A 3: 27,371,837 (GRCm38) V14D probably benign Het
Glb1l A G 1: 75,202,737 (GRCm38) Y183H probably damaging Het
Hycc1 A G 5: 23,964,795 (GRCm38) S519P possibly damaging Het
Ighv3-4 T C 12: 114,253,654 (GRCm38) T106A probably damaging Het
Ik T G 18: 36,755,465 (GRCm38) F439V possibly damaging Het
Itih5 T C 2: 10,249,304 (GRCm38) S789P probably damaging Het
Kcnj8 T C 6: 142,566,239 (GRCm38) D214G probably damaging Het
Kdm5a C A 6: 120,430,215 (GRCm38) H1464N probably benign Het
Klb A T 5: 65,379,340 (GRCm38) Y671F probably damaging Het
Kremen2 C A 17: 23,741,885 (GRCm38) R421L possibly damaging Het
Mroh9 T A 1: 163,039,181 (GRCm38) D662V probably damaging Het
Ndufa8 T C 2: 36,044,435 (GRCm38) M44V possibly damaging Het
Nedd4l A T 18: 65,205,651 (GRCm38) R695S probably damaging Het
Nuf2 G A 1: 169,522,419 (GRCm38) P97S probably damaging Het
Or14c46 A C 7: 86,269,537 (GRCm38) L84R probably damaging Het
Or2ah1 T C 2: 85,823,052 (GRCm38) V27A probably benign Het
Or5ac24 T C 16: 59,345,204 (GRCm38) T166A possibly damaging Het
P4ha2 A G 11: 54,110,994 (GRCm38) T33A probably benign Het
Parp1 A G 1: 180,588,668 (GRCm38) H544R probably damaging Het
Plec A G 15: 76,177,769 (GRCm38) L2678P probably damaging Het
Rad1 T A 15: 10,490,293 (GRCm38) Y85* probably null Het
Sema6d A G 2: 124,657,821 (GRCm38) I309V probably benign Het
Skint2 T C 4: 112,624,351 (GRCm38) V137A probably damaging Het
Slc23a3 T C 1: 75,133,233 (GRCm38) N130S probably benign Het
Slc35f1 T C 10: 53,062,500 (GRCm38) F176S probably damaging Het
Slc44a2 T A 9: 21,320,848 (GRCm38) Y10N probably benign Het
Smarcc1 A G 9: 110,185,884 (GRCm38) T506A probably damaging Het
Smchd1 A T 17: 71,387,092 (GRCm38) S1219R probably benign Het
Smco1 A G 16: 32,274,111 (GRCm38) N200S probably benign Het
Srcap A G 7: 127,541,943 (GRCm38) T1571A probably benign Het
Strip2 C T 6: 29,932,208 (GRCm38) T459I probably benign Het
Tarbp1 C T 8: 126,427,034 (GRCm38) A1560T probably damaging Het
Tcl1b1 T A 12: 105,159,693 (GRCm38) probably benign Het
Tdrd5 T C 1: 156,284,271 (GRCm38) E436G probably damaging Het
Trim31 T A 17: 36,898,516 (GRCm38) C55S probably damaging Het
Tsr1 G T 11: 74,903,919 (GRCm38) E467* probably null Het
Tulp4 T A 17: 6,185,289 (GRCm38) D178E probably damaging Het
Vmn1r30 A G 6: 58,435,010 (GRCm38) V279A possibly damaging Het
Vmn2r98 A G 17: 19,065,313 (GRCm38) R132G probably benign Het
Other mutations in Mtmr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01801:Mtmr12 APN 15 12,269,959 (GRCm38) missense probably damaging 1.00
IGL02158:Mtmr12 APN 15 12,237,930 (GRCm38) missense probably damaging 1.00
pius UTSW 15 12,245,011 (GRCm38) missense probably damaging 1.00
R0281:Mtmr12 UTSW 15 12,257,706 (GRCm38) nonsense probably null
R1739:Mtmr12 UTSW 15 12,245,019 (GRCm38) missense probably benign 0.06
R1876:Mtmr12 UTSW 15 12,257,630 (GRCm38) missense probably damaging 1.00
R2284:Mtmr12 UTSW 15 12,245,011 (GRCm38) missense probably damaging 1.00
R4301:Mtmr12 UTSW 15 12,236,020 (GRCm38) missense possibly damaging 0.95
R4424:Mtmr12 UTSW 15 12,230,314 (GRCm38) missense probably damaging 0.98
R4617:Mtmr12 UTSW 15 12,270,046 (GRCm38) missense probably damaging 1.00
R5418:Mtmr12 UTSW 15 12,269,959 (GRCm38) missense probably damaging 1.00
R6316:Mtmr12 UTSW 15 12,236,113 (GRCm38) missense probably null 0.31
R6857:Mtmr12 UTSW 15 12,263,832 (GRCm38) missense probably damaging 1.00
R7511:Mtmr12 UTSW 15 12,265,595 (GRCm38) missense possibly damaging 0.94
R7515:Mtmr12 UTSW 15 12,269,951 (GRCm38) missense probably damaging 1.00
R7607:Mtmr12 UTSW 15 12,257,708 (GRCm38) nonsense probably null
R7709:Mtmr12 UTSW 15 12,245,011 (GRCm38) missense probably damaging 1.00
R8217:Mtmr12 UTSW 15 12,259,640 (GRCm38) missense possibly damaging 0.89
R8257:Mtmr12 UTSW 15 12,259,598 (GRCm38) missense possibly damaging 0.89
R8398:Mtmr12 UTSW 15 12,265,609 (GRCm38) missense probably damaging 1.00
R8778:Mtmr12 UTSW 15 12,269,920 (GRCm38) missense probably benign 0.00
RF013:Mtmr12 UTSW 15 12,261,898 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AAGCGAGTCTCACTGCCTAG -3'
(R):5'- AGTGAGTGTTACTCTCCGATTCC -3'

Sequencing Primer
(F):5'- AGTAAATGTTTTTCATCGTCTCTAGC -3'
(R):5'- TCTCCGATTCCTCCAACACAGAG -3'
Posted On 2019-05-13