Incidental Mutation 'R0675:Mroh2a'
ID 218600
Institutional Source Beutler Lab
Gene Symbol Mroh2a
Ensembl Gene ENSMUSG00000079429
Gene Name maestro heat-like repeat family member 2A
Synonyms ENSMUSG00000044873, Heatr7b1, OTTMUSG00000020804
MMRRC Submission 038860-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R0675 (G1)
Quality Score 59
Status Validated
Chromosome 1
Chromosomal Location 88154713-88190011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88178064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1053 (D1053N)
Ref Sequence ENSEMBL: ENSMUSP00000130508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061013] [ENSMUST00000113130]
AlphaFold D3Z750
Predicted Effect probably damaging
Transcript: ENSMUST00000061013
AA Change: D1053N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429
AA Change: D1053N

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 99 112 N/A INTRINSIC
low complexity region 1235 1248 N/A INTRINSIC
SCOP:d1jdha_ 1371 1669 9e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113130
AA Change: D1050N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429
AA Change: D1050N

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 99 112 N/A INTRINSIC
low complexity region 1232 1245 N/A INTRINSIC
SCOP:d1gw5a_ 1446 1671 6e-6 SMART
Meta Mutation Damage Score 0.3311 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (88/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,024,124 (GRCm39) probably benign Het
Aire T C 10: 77,870,327 (GRCm39) probably benign Het
Akap12 T C 10: 4,303,315 (GRCm39) S42P probably benign Het
Amigo1 T C 3: 108,098,985 (GRCm39) probably benign Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Ank1 T A 8: 23,600,400 (GRCm39) probably benign Het
Ano5 A T 7: 51,224,558 (GRCm39) T472S probably damaging Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Cd200 T C 16: 45,217,473 (GRCm39) I73V probably benign Het
Cd47 T C 16: 49,727,162 (GRCm39) I318T possibly damaging Het
Cep290 A G 10: 100,404,675 (GRCm39) probably null Het
Cep350 A G 1: 155,835,499 (GRCm39) S66P possibly damaging Het
Cfap46 C T 7: 139,255,950 (GRCm39) C300Y probably damaging Het
Chd1 T A 17: 15,978,523 (GRCm39) probably benign Het
Chd5 C A 4: 152,470,407 (GRCm39) T1913K probably benign Het
Cimip3 T C 17: 47,724,701 (GRCm39) E140G probably benign Het
Clec4b1 A G 6: 123,048,405 (GRCm39) Y180C probably damaging Het
Cntnap5c A T 17: 58,341,990 (GRCm39) D227V probably damaging Het
Col19a1 C G 1: 24,614,536 (GRCm39) probably benign Het
Csmd1 A T 8: 16,208,145 (GRCm39) M1270K probably benign Het
Cyp2c66 T A 19: 39,175,060 (GRCm39) F487I possibly damaging Het
Dpp8 T C 9: 64,973,784 (GRCm39) probably benign Het
Duoxa1 A T 2: 122,136,861 (GRCm39) probably benign Het
Edil3 A G 13: 89,325,399 (GRCm39) K263E probably damaging Het
Fat2 A G 11: 55,200,035 (GRCm39) L1013P probably damaging Het
Fras1 T C 5: 96,815,246 (GRCm39) probably benign Het
Gab1 A G 8: 81,496,297 (GRCm39) S668P probably damaging Het
Galnt14 T C 17: 73,852,030 (GRCm39) T130A probably damaging Het
Gm10192 G A 4: 97,071,109 (GRCm39) H99Y unknown Het
Gm5592 A G 7: 40,938,811 (GRCm39) T698A possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,522,017 (GRCm39) K149R probably benign Het
Igkv4-71 A G 6: 69,220,411 (GRCm39) S29P probably damaging Het
Igsf10 C T 3: 59,236,015 (GRCm39) V1389I probably benign Het
Ik T C 18: 36,880,386 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,962 (GRCm39) P1203S probably damaging Het
Iqsec2 G A X: 150,987,120 (GRCm39) E398K possibly damaging Het
Jmjd6 A G 11: 116,731,353 (GRCm39) V232A probably damaging Het
Klhdc9 G A 1: 171,187,895 (GRCm39) T112M possibly damaging Het
Marcks A G 10: 37,017,181 (GRCm39) probably benign Het
Mctp2 T A 7: 71,732,918 (GRCm39) T829S probably damaging Het
Mtmr14 A T 6: 113,247,608 (GRCm39) H518L probably damaging Het
Myo5c T C 9: 75,185,571 (GRCm39) M978T probably benign Het
Nlrc3 T C 16: 3,766,775 (GRCm39) I1015V probably benign Het
Nlrp5 C A 7: 23,116,842 (GRCm39) Q189K possibly damaging Het
Or1e26 A C 11: 73,480,078 (GRCm39) L162R probably damaging Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or51f1d A G 7: 102,700,909 (GRCm39) I135V probably benign Het
Or8k35 T C 2: 86,424,423 (GRCm39) I250V probably benign Het
Otof T A 5: 30,539,705 (GRCm39) Y1051F probably benign Het
Pcdhb14 C A 18: 37,581,392 (GRCm39) T166K possibly damaging Het
Pla2g4e A G 2: 120,030,679 (GRCm39) probably benign Het
Polr3gl T C 3: 96,489,471 (GRCm39) E20G probably damaging Het
Psmd1 A G 1: 86,009,761 (GRCm39) D295G probably benign Het
Ptpn21 C A 12: 98,654,475 (GRCm39) A831S probably benign Het
Pwwp3a T A 10: 80,065,914 (GRCm39) V56E probably damaging Het
Rd3l T C 12: 111,946,596 (GRCm39) D60G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,332,660 (GRCm39) D2624G probably benign Het
Sec31a T C 5: 100,541,066 (GRCm39) D347G probably damaging Het
Sema4g G A 19: 44,986,026 (GRCm39) R289H probably damaging Het
Sema5b C T 16: 35,480,703 (GRCm39) T761I probably benign Het
Septin1 A T 7: 126,816,171 (GRCm39) F86L probably damaging Het
Shank3 T C 15: 89,415,591 (GRCm39) V627A possibly damaging Het
Slc25a46 C A 18: 31,742,641 (GRCm39) G75V probably benign Het
Slc45a2 T A 15: 11,025,864 (GRCm39) Y405N probably damaging Het
Spidr T C 16: 15,855,498 (GRCm39) E339G probably damaging Het
Sptbn1 A T 11: 30,067,903 (GRCm39) H1770Q probably damaging Het
Srgap1 T C 10: 121,628,140 (GRCm39) Y944C probably damaging Het
Supt20 C T 3: 54,614,390 (GRCm39) T169I probably damaging Het
Tie1 G A 4: 118,336,966 (GRCm39) Q587* probably null Het
Tmem214 A G 5: 31,029,169 (GRCm39) T203A possibly damaging Het
Tmprss15 C A 16: 78,782,838 (GRCm39) S742I probably damaging Het
Wdr87-ps T C 7: 29,231,942 (GRCm39) noncoding transcript Het
Zfhx2 A G 14: 55,300,620 (GRCm39) V2377A probably damaging Het
Zfp763 G A 17: 33,238,774 (GRCm39) H124Y possibly damaging Het
Zfp846 T C 9: 20,504,853 (GRCm39) S238P probably benign Het
Other mutations in Mroh2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Mroh2a APN 1 88,172,692 (GRCm39) missense probably benign 0.03
IGL00990:Mroh2a APN 1 88,158,468 (GRCm39) missense probably damaging 0.99
IGL00990:Mroh2a APN 1 88,161,842 (GRCm39) missense possibly damaging 0.76
IGL03097:Mroh2a UTSW 1 88,163,098 (GRCm39) missense probably benign 0.30
R0032:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
R0068:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
R0139:Mroh2a UTSW 1 88,185,524 (GRCm39) missense probably damaging 1.00
R0197:Mroh2a UTSW 1 88,173,764 (GRCm39) missense probably damaging 1.00
R0242:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R0322:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R0374:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R0387:Mroh2a UTSW 1 88,173,764 (GRCm39) missense probably damaging 1.00
R0412:Mroh2a UTSW 1 88,162,938 (GRCm39) missense probably benign 0.01
R0536:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R0548:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R0580:Mroh2a UTSW 1 88,171,672 (GRCm39) missense probably damaging 1.00
R0581:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
R0583:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
R0613:Mroh2a UTSW 1 88,171,672 (GRCm39) missense probably damaging 1.00
R0652:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R0657:Mroh2a UTSW 1 88,183,287 (GRCm39) missense probably damaging 1.00
R0659:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R0659:Mroh2a UTSW 1 88,178,064 (GRCm39) missense probably damaging 1.00
R0671:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R0675:Mroh2a UTSW 1 88,156,102 (GRCm39) missense probably damaging 0.99
R0689:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R0689:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R0735:Mroh2a UTSW 1 88,171,672 (GRCm39) missense probably damaging 1.00
R0761:Mroh2a UTSW 1 88,171,672 (GRCm39) missense probably damaging 1.00
R0766:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R0845:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R0853:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R0959:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R0960:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R1004:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R1013:Mroh2a UTSW 1 88,162,334 (GRCm39) critical splice donor site probably null
R1028:Mroh2a UTSW 1 88,163,098 (GRCm39) missense probably benign 0.30
R1268:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R1281:Mroh2a UTSW 1 88,183,889 (GRCm39) frame shift probably null
R1414:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R1439:Mroh2a UTSW 1 88,185,524 (GRCm39) missense probably damaging 1.00
R1441:Mroh2a UTSW 1 88,169,353 (GRCm39) missense possibly damaging 0.93
R1442:Mroh2a UTSW 1 88,160,075 (GRCm39) splice site probably benign
R1442:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R1465:Mroh2a UTSW 1 88,185,524 (GRCm39) missense probably damaging 1.00
R1662:Mroh2a UTSW 1 88,169,340 (GRCm39) missense probably benign 0.07
R1686:Mroh2a UTSW 1 88,162,334 (GRCm39) critical splice donor site probably null
R1686:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R1780:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R1846:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R1899:Mroh2a UTSW 1 88,163,098 (GRCm39) missense probably benign 0.30
R1958:Mroh2a UTSW 1 88,165,213 (GRCm39) nonsense probably null
R2122:Mroh2a UTSW 1 88,184,476 (GRCm39) missense probably benign 0.37
R2248:Mroh2a UTSW 1 88,184,476 (GRCm39) missense probably benign 0.37
R2306:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R2869:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R2870:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R2871:Mroh2a UTSW 1 88,183,287 (GRCm39) missense probably damaging 1.00
R2872:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R3408:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R3608:Mroh2a UTSW 1 88,172,717 (GRCm39) missense probably damaging 1.00
R3730:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R3937:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R4022:Mroh2a UTSW 1 88,173,764 (GRCm39) missense probably damaging 1.00
R4049:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R4133:Mroh2a UTSW 1 88,182,687 (GRCm39) missense possibly damaging 0.95
R4361:Mroh2a UTSW 1 88,182,687 (GRCm39) missense possibly damaging 0.95
R4392:Mroh2a UTSW 1 88,187,311 (GRCm39) missense probably damaging 1.00
R4401:Mroh2a UTSW 1 88,182,657 (GRCm39) missense possibly damaging 0.72
R4402:Mroh2a UTSW 1 88,182,657 (GRCm39) missense possibly damaging 0.72
R4575:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R4625:Mroh2a UTSW 1 88,182,687 (GRCm39) missense possibly damaging 0.95
R4631:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R4665:Mroh2a UTSW 1 88,169,340 (GRCm39) missense probably benign 0.07
R4701:Mroh2a UTSW 1 88,162,334 (GRCm39) critical splice donor site probably null
R4701:Mroh2a UTSW 1 88,169,340 (GRCm39) missense probably benign 0.07
R4771:Mroh2a UTSW 1 88,179,087 (GRCm39) missense probably damaging 1.00
R4795:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R4839:Mroh2a UTSW 1 88,165,666 (GRCm39) missense probably damaging 1.00
R4873:Mroh2a UTSW 1 88,182,657 (GRCm39) missense possibly damaging 0.72
R4875:Mroh2a UTSW 1 88,182,657 (GRCm39) missense possibly damaging 0.72
R4896:Mroh2a UTSW 1 88,184,476 (GRCm39) missense probably benign 0.37
R5007:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R5031:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R5062:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R5301:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R5367:Mroh2a UTSW 1 88,182,687 (GRCm39) missense possibly damaging 0.95
R5371:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R5446:Mroh2a UTSW 1 88,182,687 (GRCm39) missense possibly damaging 0.95
R5484:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R5506:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R5561:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R5615:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R5825:Mroh2a UTSW 1 88,158,402 (GRCm39) nonsense probably null
R5891:Mroh2a UTSW 1 88,169,337 (GRCm39) missense possibly damaging 0.93
R5906:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R5928:Mroh2a UTSW 1 88,169,340 (GRCm39) missense probably benign 0.07
R6004:Mroh2a UTSW 1 88,176,377 (GRCm39) missense probably damaging 1.00
R6035:Mroh2a UTSW 1 88,158,390 (GRCm39) missense probably damaging 1.00
R6064:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R6074:Mroh2a UTSW 1 88,186,386 (GRCm39) missense probably benign 0.00
R6091:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R6127:Mroh2a UTSW 1 88,162,334 (GRCm39) critical splice donor site probably null
R6234:Mroh2a UTSW 1 88,184,476 (GRCm39) missense probably benign 0.37
R6234:Mroh2a UTSW 1 88,162,334 (GRCm39) critical splice donor site probably null
R6244:Mroh2a UTSW 1 88,184,476 (GRCm39) missense probably benign 0.37
R6464:Mroh2a UTSW 1 88,185,524 (GRCm39) missense probably damaging 1.00
R6465:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R6575:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
R6809:Mroh2a UTSW 1 88,162,938 (GRCm39) missense probably benign 0.01
R6819:Mroh2a UTSW 1 88,170,142 (GRCm39) missense possibly damaging 0.77
R6854:Mroh2a UTSW 1 88,171,672 (GRCm39) missense probably damaging 1.00
R6860:Mroh2a UTSW 1 88,182,657 (GRCm39) missense possibly damaging 0.72
R7126:Mroh2a UTSW 1 88,182,657 (GRCm39) missense possibly damaging 0.72
R7818:Mroh2a UTSW 1 88,162,334 (GRCm39) critical splice donor site probably null
R8350:Mroh2a UTSW 1 88,171,805 (GRCm39) splice site probably null
R9414:Mroh2a UTSW 1 88,179,096 (GRCm39) missense probably benign 0.26
RF024:Mroh2a UTSW 1 88,170,207 (GRCm39) missense probably damaging 1.00
V5622:Mroh2a UTSW 1 88,154,813 (GRCm39) start gained probably benign
V8831:Mroh2a UTSW 1 88,183,889 (GRCm39) frame shift probably null
X0027:Mroh2a UTSW 1 88,176,335 (GRCm39) missense possibly damaging 0.86
X0028:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
X0028:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
X0033:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
X0034:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
X0034:Mroh2a UTSW 1 88,160,014 (GRCm39) missense probably damaging 1.00
X0034:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
X0039:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
X0057:Mroh2a UTSW 1 88,183,888 (GRCm39) frame shift probably null
X0057:Mroh2a UTSW 1 88,183,377 (GRCm39) missense probably benign 0.25
X0057:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
X0063:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
Z1188:Mroh2a UTSW 1 88,162,938 (GRCm39) missense probably benign 0.01
Z1190:Mroh2a UTSW 1 88,159,979 (GRCm39) frame shift probably null
Z1192:Mroh2a UTSW 1 88,162,938 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGCAGATACCAAGGGAGCCACAG -3'
(R):5'- TCTTGGAGGACTCAGCTAGGGAATG -3'

Sequencing Primer
(F):5'- TAAAGGCTGTTGTGTTGAAGGAAC -3'
(R):5'- TTATGTCCCAGCTACTACAAGC -3'
Posted On 2014-08-18