Incidental Mutation 'R7026:Mboat2'
ID 545983
Institutional Source Beutler Lab
Gene Symbol Mboat2
Ensembl Gene ENSMUSG00000020646
Gene Name membrane bound O-acyltransferase domain containing 2
Synonyms Oact2, 2810049G06Rik
MMRRC Submission 045127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7026 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 24881401-25014399 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 24998381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078902] [ENSMUST00000078902] [ENSMUST00000110942] [ENSMUST00000110942] [ENSMUST00000221952] [ENSMUST00000221952] [ENSMUST00000222994]
AlphaFold Q8R3I2
Predicted Effect probably null
Transcript: ENSMUST00000078902
SMART Domains Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
Pfam:MBOAT 97 405 8.9e-35 PFAM
transmembrane domain 410 432 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000078902
SMART Domains Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
Pfam:MBOAT 97 405 8.9e-35 PFAM
transmembrane domain 410 432 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110942
SMART Domains Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646

DomainStartEndE-ValueType
Pfam:MBOAT 21 430 2.8e-32 PFAM
transmembrane domain 442 464 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110942
SMART Domains Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646

DomainStartEndE-ValueType
Pfam:MBOAT 21 430 2.8e-32 PFAM
transmembrane domain 442 464 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000221952
Predicted Effect probably null
Transcript: ENSMUST00000221952
Predicted Effect probably benign
Transcript: ENSMUST00000222994
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,805,392 (GRCm39) M749L probably benign Het
Abcc2 A G 19: 43,818,974 (GRCm39) N1321S probably benign Het
Acsm2 T A 7: 119,191,450 (GRCm39) V506E probably damaging Het
Add2 G A 6: 86,063,965 (GRCm39) R88Q probably benign Het
Adgra3 A G 5: 50,118,083 (GRCm39) V1155A probably benign Het
Ahsg T A 16: 22,710,963 (GRCm39) D33E probably damaging Het
Alox12b A T 11: 69,048,131 (GRCm39) D20V possibly damaging Het
Alppl2 A G 1: 87,017,420 (GRCm39) probably null Het
Ankfn1 A G 11: 89,530,403 (GRCm39) *49Q probably null Het
Bcl11b T C 12: 107,882,851 (GRCm39) D488G probably damaging Het
Bcl2l10 T A 9: 75,258,364 (GRCm39) F175L probably benign Het
C2cd3 T A 7: 100,081,299 (GRCm39) D127E probably damaging Het
Cacna1c C T 6: 118,614,732 (GRCm39) V1311I probably damaging Het
Cd55b A T 1: 130,316,427 (GRCm39) I374K probably benign Het
Cfap36 T C 11: 29,172,565 (GRCm39) T267A probably benign Het
Cibar2 G A 8: 120,895,324 (GRCm39) H193Y probably damaging Het
Cog1 T C 11: 113,540,415 (GRCm39) L10P probably damaging Het
Dnah7a T A 1: 53,543,448 (GRCm39) M2241L probably benign Het
Dock10 G T 1: 80,479,504 (GRCm39) A1809E probably benign Het
Dock7 A T 4: 98,967,156 (GRCm39) D255E probably benign Het
Exph5 T C 9: 53,251,728 (GRCm39) F123L probably benign Het
Fbxw27 C A 9: 109,617,146 (GRCm39) K118N possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Get4 C T 5: 139,238,358 (GRCm39) R47W possibly damaging Het
Gm3676 G A 14: 41,366,072 (GRCm39) S81F probably benign Het
Gulp1 C T 1: 44,820,245 (GRCm39) P251S possibly damaging Het
Hhatl T C 9: 121,617,339 (GRCm39) D298G probably benign Het
Hsf2bp T A 17: 32,252,254 (GRCm39) K60N possibly damaging Het
Ints4 T A 7: 97,168,361 (GRCm39) V625D possibly damaging Het
Iqch T A 9: 63,432,421 (GRCm39) K286* probably null Het
Irak1bp1 T A 9: 82,712,084 (GRCm39) S2T possibly damaging Het
Kdm3b G A 18: 34,955,517 (GRCm39) V1135I possibly damaging Het
Lama3 C A 18: 12,649,605 (GRCm39) N181K probably damaging Het
Lrfn2 T G 17: 49,404,005 (GRCm39) S709R probably benign Het
Lrp12 T C 15: 39,743,566 (GRCm39) H123R probably damaging Het
Lrp1b A G 2: 41,159,234 (GRCm39) S1569P probably damaging Het
Lrp2 T G 2: 69,352,131 (GRCm39) Q635P probably damaging Het
Mctp1 A G 13: 76,954,378 (GRCm39) T596A probably benign Het
Mroh9 T A 1: 162,888,251 (GRCm39) M275L probably benign Het
Ms4a10 A C 19: 10,944,869 (GRCm39) probably null Het
Myo9a C T 9: 59,722,617 (GRCm39) R560C probably damaging Het
Or11h4b A G 14: 50,918,716 (GRCm39) I125T probably damaging Het
Or5b107 A G 19: 13,142,779 (GRCm39) T134A probably benign Het
Or6z1 T A 7: 6,504,820 (GRCm39) H135L probably damaging Het
Ormdl3 A G 11: 98,474,808 (GRCm39) V45A possibly damaging Het
Parp4 T C 14: 56,858,049 (GRCm39) Y894H probably benign Het
Pigo G A 4: 43,023,380 (GRCm39) Q259* probably null Het
Prrc2a G A 17: 35,380,803 (GRCm39) P70S unknown Het
Rab3ip A G 10: 116,773,441 (GRCm39) I124T probably benign Het
Rap1b A G 10: 117,654,384 (GRCm39) I21T probably benign Het
Rasgrf2 T A 13: 92,131,732 (GRCm39) S642C probably damaging Het
Rb1 T C 14: 73,535,539 (GRCm39) E106G probably benign Het
Reps1 C A 10: 17,983,437 (GRCm39) R427S probably damaging Het
Rnf213 A C 11: 119,370,481 (GRCm39) H4760P possibly damaging Het
Rtl1 A G 12: 109,559,595 (GRCm39) I748T probably damaging Het
Sco1 A T 11: 66,944,683 (GRCm39) K102M probably damaging Het
Sec16b T C 1: 157,362,281 (GRCm39) M44T possibly damaging Het
Slc7a10 T C 7: 34,898,139 (GRCm39) M297T probably damaging Het
Smchd1 T C 17: 71,656,662 (GRCm39) H1935R probably benign Het
Sowaha G A 11: 53,370,050 (GRCm39) R229W probably damaging Het
Sptlc3 A T 2: 139,379,608 (GRCm39) M83L probably benign Het
Tbc1d9 T C 8: 83,968,192 (GRCm39) V431A probably benign Het
Tmem98 A G 11: 80,712,214 (GRCm39) E217G possibly damaging Het
Trim13 T A 14: 61,842,562 (GRCm39) L193* probably null Het
Trp53bp2 T C 1: 182,270,300 (GRCm39) S367P probably benign Het
Tsc2 T G 17: 24,845,713 (GRCm39) I202L probably damaging Het
Twf2 T A 9: 106,092,079 (GRCm39) V312E probably damaging Het
Usp34 G T 11: 23,311,622 (GRCm39) L471F probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Zfp1010 T A 2: 176,957,361 (GRCm39) I46F probably benign Het
Other mutations in Mboat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Mboat2 APN 12 24,989,353 (GRCm39) splice site probably benign
IGL00755:Mboat2 APN 12 25,007,645 (GRCm39) missense probably benign 0.20
IGL01691:Mboat2 APN 12 25,004,221 (GRCm39) missense probably damaging 1.00
IGL02824:Mboat2 APN 12 24,996,585 (GRCm39) missense probably benign 0.03
R1052:Mboat2 UTSW 12 24,996,527 (GRCm39) missense probably damaging 1.00
R1531:Mboat2 UTSW 12 25,009,029 (GRCm39) missense probably benign
R1998:Mboat2 UTSW 12 24,996,672 (GRCm39) missense possibly damaging 0.58
R1999:Mboat2 UTSW 12 24,996,672 (GRCm39) missense possibly damaging 0.58
R2069:Mboat2 UTSW 12 25,001,442 (GRCm39) missense probably benign
R2921:Mboat2 UTSW 12 25,004,239 (GRCm39) missense probably damaging 1.00
R2923:Mboat2 UTSW 12 25,004,239 (GRCm39) missense probably damaging 1.00
R3113:Mboat2 UTSW 12 24,932,718 (GRCm39) missense probably damaging 1.00
R4300:Mboat2 UTSW 12 25,009,082 (GRCm39) missense probably benign 0.33
R5133:Mboat2 UTSW 12 25,009,065 (GRCm39) missense probably benign 0.00
R5356:Mboat2 UTSW 12 25,007,572 (GRCm39) missense probably benign 0.24
R6084:Mboat2 UTSW 12 24,928,284 (GRCm39) missense probably damaging 1.00
R6184:Mboat2 UTSW 12 25,001,430 (GRCm39) missense possibly damaging 0.54
R6194:Mboat2 UTSW 12 24,996,637 (GRCm39) missense probably benign 0.07
R6281:Mboat2 UTSW 12 25,007,678 (GRCm39) missense probably benign 0.18
R7269:Mboat2 UTSW 12 24,881,708 (GRCm39) missense probably benign 0.02
R7638:Mboat2 UTSW 12 24,989,325 (GRCm39) missense probably damaging 1.00
R7936:Mboat2 UTSW 12 25,005,392 (GRCm39) missense probably damaging 1.00
R8416:Mboat2 UTSW 12 24,984,609 (GRCm39) missense probably damaging 1.00
R8883:Mboat2 UTSW 12 25,009,033 (GRCm39) missense
Z1176:Mboat2 UTSW 12 24,998,343 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGCAGTTACGGAGAAGCTCC -3'
(R):5'- GGCCTTGAATATGAACTTGGGG -3'

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