Incidental Mutation 'R1668:Morc2a'
ID 187385
Institutional Source Beutler Lab
Gene Symbol Morc2a
Ensembl Gene ENSMUSG00000034543
Gene Name microrchidia 2A
Synonyms 8430403M08Rik, Zcwcc1
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 3599191-3640477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3625885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 162 (V162M)
Ref Sequence ENSEMBL: ENSMUSP00000094176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093389] [ENSMUST00000096441]
AlphaFold Q69ZX6
Predicted Effect probably benign
Transcript: ENSMUST00000093389
AA Change: V162M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: V162M

DomainStartEndE-ValueType
HATPase_c 24 134 5.35e0 SMART
coiled coil region 285 322 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Pfam:zf-CW 495 542 5.1e-18 PFAM
coiled coil region 555 583 N/A INTRINSIC
low complexity region 600 618 N/A INTRINSIC
low complexity region 678 704 N/A INTRINSIC
low complexity region 714 729 N/A INTRINSIC
coiled coil region 742 776 N/A INTRINSIC
coiled coil region 966 1011 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096441
AA Change: V162M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: V162M

DomainStartEndE-ValueType
HATPase_c 24 134 5.35e0 SMART
coiled coil region 285 322 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Pfam:zf-CW 494 543 1.7e-19 PFAM
coiled coil region 555 583 N/A INTRINSIC
low complexity region 600 618 N/A INTRINSIC
low complexity region 678 704 N/A INTRINSIC
low complexity region 714 729 N/A INTRINSIC
coiled coil region 742 776 N/A INTRINSIC
coiled coil region 966 1011 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131517
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly damaging Het
Other mutations in Morc2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Morc2a APN 11 3,630,283 (GRCm39) missense probably damaging 0.99
IGL00914:Morc2a APN 11 3,618,844 (GRCm39) splice site probably null
IGL01081:Morc2a APN 11 3,638,149 (GRCm39) missense probably damaging 1.00
IGL01092:Morc2a APN 11 3,634,042 (GRCm39) missense probably benign 0.00
IGL01292:Morc2a APN 11 3,638,175 (GRCm39) missense probably damaging 1.00
IGL01326:Morc2a APN 11 3,631,775 (GRCm39) missense probably benign 0.03
IGL01526:Morc2a APN 11 3,600,428 (GRCm39) missense probably benign 0.00
IGL01651:Morc2a APN 11 3,608,727 (GRCm39) critical splice donor site probably null
IGL02860:Morc2a APN 11 3,611,821 (GRCm39) splice site probably benign
IGL03372:Morc2a APN 11 3,631,813 (GRCm39) splice site probably benign
R0136:Morc2a UTSW 11 3,635,907 (GRCm39) splice site probably null
R0267:Morc2a UTSW 11 3,628,567 (GRCm39) missense probably benign 0.03
R0279:Morc2a UTSW 11 3,633,989 (GRCm39) missense probably benign 0.09
R0556:Morc2a UTSW 11 3,631,809 (GRCm39) critical splice donor site probably null
R1084:Morc2a UTSW 11 3,600,454 (GRCm39) splice site probably benign
R1148:Morc2a UTSW 11 3,628,557 (GRCm39) missense probably benign 0.00
R1148:Morc2a UTSW 11 3,628,557 (GRCm39) missense probably benign 0.00
R1341:Morc2a UTSW 11 3,630,216 (GRCm39) missense possibly damaging 0.80
R1460:Morc2a UTSW 11 3,633,794 (GRCm39) missense probably benign 0.01
R1493:Morc2a UTSW 11 3,628,557 (GRCm39) missense probably benign 0.00
R1665:Morc2a UTSW 11 3,625,885 (GRCm39) missense probably benign 0.00
R1669:Morc2a UTSW 11 3,625,885 (GRCm39) missense probably benign 0.00
R1812:Morc2a UTSW 11 3,635,831 (GRCm39) missense probably damaging 0.98
R2132:Morc2a UTSW 11 3,629,787 (GRCm39) missense possibly damaging 0.89
R2133:Morc2a UTSW 11 3,630,302 (GRCm39) nonsense probably null
R2200:Morc2a UTSW 11 3,633,919 (GRCm39) missense probably benign 0.00
R2698:Morc2a UTSW 11 3,635,400 (GRCm39) missense probably damaging 1.00
R3236:Morc2a UTSW 11 3,633,612 (GRCm39) missense probably benign
R3698:Morc2a UTSW 11 3,629,672 (GRCm39) nonsense probably null
R3743:Morc2a UTSW 11 3,633,700 (GRCm39) missense possibly damaging 0.46
R4119:Morc2a UTSW 11 3,633,868 (GRCm39) missense probably benign 0.00
R4898:Morc2a UTSW 11 3,626,664 (GRCm39) nonsense probably null
R5148:Morc2a UTSW 11 3,639,084 (GRCm39) missense probably damaging 1.00
R5228:Morc2a UTSW 11 3,635,439 (GRCm39) missense probably damaging 0.96
R5395:Morc2a UTSW 11 3,638,232 (GRCm39) missense possibly damaging 0.94
R5808:Morc2a UTSW 11 3,633,781 (GRCm39) missense probably benign 0.00
R5942:Morc2a UTSW 11 3,629,936 (GRCm39) missense probably damaging 1.00
R6634:Morc2a UTSW 11 3,622,376 (GRCm39) critical splice donor site probably null
R7056:Morc2a UTSW 11 3,625,925 (GRCm39) missense probably damaging 1.00
R7537:Morc2a UTSW 11 3,633,566 (GRCm39) nonsense probably null
R8014:Morc2a UTSW 11 3,627,419 (GRCm39) missense probably damaging 1.00
R8143:Morc2a UTSW 11 3,628,537 (GRCm39) missense probably benign 0.00
R8144:Morc2a UTSW 11 3,634,039 (GRCm39) missense probably benign 0.00
R8711:Morc2a UTSW 11 3,630,013 (GRCm39) missense probably damaging 0.98
R8714:Morc2a UTSW 11 3,625,877 (GRCm39) missense probably benign 0.13
R8736:Morc2a UTSW 11 3,631,737 (GRCm39) missense probably damaging 0.98
R8857:Morc2a UTSW 11 3,627,484 (GRCm39) critical splice donor site probably null
R8885:Morc2a UTSW 11 3,628,584 (GRCm39) missense probably damaging 1.00
R9457:Morc2a UTSW 11 3,626,184 (GRCm39) missense probably benign 0.36
R9711:Morc2a UTSW 11 3,600,381 (GRCm39) start codon destroyed probably null 1.00
RF013:Morc2a UTSW 11 3,626,191 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ACTTTGGAGGCACAAACCAGCATAG -3'
(R):5'- AGGCAGGAAATCTCAGACTTTCAGC -3'

Sequencing Primer
(F):5'- CCAGCATAGTGACAGAAGTTTG -3'
(R):5'- AGATGATCACCAGTGTTCCTG -3'
Posted On 2014-05-09