Incidental Mutation 'R0116:Morc2b'
ID 20844
Institutional Source Beutler Lab
Gene Symbol Morc2b
Ensembl Gene ENSMUSG00000048602
Gene Name microrchidia 2B
Synonyms 4932411A10Rik
MMRRC Submission 038402-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R0116 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 33354562-33369473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33356015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 586 (S586P)
Ref Sequence ENSEMBL: ENSMUSP00000123354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]
AlphaFold Q8C5W4
Predicted Effect probably damaging
Transcript: ENSMUST00000053896
AA Change: S586P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: S586P

DomainStartEndE-ValueType
HATPase_c 24 134 5.78e0 SMART
coiled coil region 285 321 N/A INTRINSIC
Pfam:zf-CW 495 541 1.9e-16 PFAM
coiled coil region 555 584 N/A INTRINSIC
low complexity region 680 695 N/A INTRINSIC
coiled coil region 961 1001 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131954
AA Change: S586P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: S586P

DomainStartEndE-ValueType
HATPase_c 24 134 5.78e0 SMART
coiled coil region 285 321 N/A INTRINSIC
Pfam:zf-CW 494 543 7.7e-18 PFAM
coiled coil region 555 584 N/A INTRINSIC
low complexity region 680 695 N/A INTRINSIC
coiled coil region 961 1001 N/A INTRINSIC
Meta Mutation Damage Score 0.1374 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.2%
Validation Efficiency 94% (95/101)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A T 9: 15,202,066 (GRCm39) V152E probably damaging Het
Abca5 T G 11: 110,167,331 (GRCm39) E1495A probably damaging Het
Abcc12 G A 8: 87,261,627 (GRCm39) S668F probably benign Het
Adgrl4 A T 3: 151,223,247 (GRCm39) T608S probably benign Het
Angel2 G A 1: 190,673,187 (GRCm39) D255N probably benign Het
Apob T A 12: 8,039,113 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,715,603 (GRCm39) R1349S probably damaging Het
Atp2b2 C T 6: 113,770,656 (GRCm39) V418I probably damaging Het
Birc6 C A 17: 74,930,741 (GRCm39) probably benign Het
Capn13 T A 17: 73,658,519 (GRCm39) Y183F probably damaging Het
Cngb1 A G 8: 95,987,266 (GRCm39) S352P probably damaging Het
Col6a3 A G 1: 90,741,273 (GRCm39) S720P probably damaging Het
Cpa4 C T 6: 30,579,657 (GRCm39) R155W probably damaging Het
Dapk1 A G 13: 60,908,914 (GRCm39) I1176V probably benign Het
Dnah17 T C 11: 117,949,132 (GRCm39) E2959G probably benign Het
Dnah7b T A 1: 46,252,520 (GRCm39) I1734N possibly damaging Het
Dnajb7 A G 15: 81,291,555 (GRCm39) Y261H probably benign Het
Dock2 T C 11: 34,579,392 (GRCm39) probably benign Het
Dyrk3 A T 1: 131,057,576 (GRCm39) V199E probably damaging Het
F2r G T 13: 95,740,994 (GRCm39) C180* probably null Het
F5 A G 1: 164,012,483 (GRCm39) S466G probably benign Het
Fbn2 A T 18: 58,235,445 (GRCm39) C677* probably null Het
Fbxo41 A G 6: 85,454,890 (GRCm39) S673P probably damaging Het
Fhad1 G T 4: 141,667,406 (GRCm39) H639N probably benign Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Foxa2 A G 2: 147,885,481 (GRCm39) S270P probably damaging Het
Fxyd7 C T 7: 30,746,793 (GRCm39) probably null Het
Gm5225 A G 17: 24,243,032 (GRCm39) D67G probably benign Het
Grik3 G A 4: 125,564,349 (GRCm39) E444K probably benign Het
Gsdma2 A G 11: 98,540,009 (GRCm39) K44E probably damaging Het
Haus1 T A 18: 77,849,770 (GRCm39) K130* probably null Het
Heg1 A G 16: 33,556,028 (GRCm39) probably benign Het
Hormad2 A G 11: 4,362,206 (GRCm39) probably benign Het
Hsd17b3 G A 13: 64,206,403 (GRCm39) R300C possibly damaging Het
Irf5 T C 6: 29,536,108 (GRCm39) F374S probably damaging Het
Itch A G 2: 155,059,903 (GRCm39) probably benign Het
Jade2 A T 11: 51,722,136 (GRCm39) L139Q probably damaging Het
Kif5c G A 2: 49,642,251 (GRCm39) probably benign Het
Lama1 T C 17: 68,083,918 (GRCm39) Y1387H probably benign Het
Larp4b A G 13: 9,220,724 (GRCm39) R658G probably damaging Het
Mcph1 C T 8: 18,838,264 (GRCm39) L729F probably benign Het
Me1 A T 9: 86,536,720 (GRCm39) N118K probably benign Het
Med13 A G 11: 86,210,723 (GRCm39) L473S probably damaging Het
Mgam T A 6: 40,635,921 (GRCm39) Y359N probably damaging Het
Mthfr A G 4: 148,135,980 (GRCm39) D310G probably benign Het
Mtmr7 A T 8: 41,034,447 (GRCm39) probably benign Het
Mtus1 A G 8: 41,451,514 (GRCm39) probably benign Het
Mus81 G T 19: 5,536,552 (GRCm39) A138D probably damaging Het
Myom2 A T 8: 15,167,633 (GRCm39) I1073F probably damaging Het
Nhsl1 A T 10: 18,400,990 (GRCm39) K739* probably null Het
Nlrp4d T A 7: 10,108,818 (GRCm39) K762N probably benign Het
Nrap T C 19: 56,343,978 (GRCm39) Y724C probably damaging Het
Ogn A T 13: 49,774,514 (GRCm39) Y219F possibly damaging Het
Or6c212 T A 10: 129,558,846 (GRCm39) D189V probably damaging Het
Or8b56 T C 9: 38,739,860 (GRCm39) L291P probably damaging Het
Or8g30 A T 9: 39,230,160 (GRCm39) I250N probably damaging Het
Padi2 T C 4: 140,653,550 (GRCm39) V180A probably benign Het
Papss2 C T 19: 32,615,768 (GRCm39) R167* probably null Het
Pcbp2 T C 15: 102,382,670 (GRCm39) probably benign Het
Per1 T A 11: 68,992,706 (GRCm39) probably benign Het
Pik3ca T C 3: 32,514,094 (GRCm39) I860T probably damaging Het
Pkdrej G A 15: 85,701,746 (GRCm39) Q1397* probably null Het
Plce1 T C 19: 38,710,265 (GRCm39) V1133A probably benign Het
Pnma8a T G 7: 16,694,625 (GRCm39) V160G probably damaging Het
Prss12 T C 3: 123,276,423 (GRCm39) C351R probably damaging Het
Qprt A T 7: 126,708,269 (GRCm39) L54Q probably damaging Het
Raf1 C T 6: 115,603,344 (GRCm39) S165N probably damaging Het
Rere A G 4: 150,701,433 (GRCm39) N1271S probably benign Het
Rnasel T A 1: 153,630,258 (GRCm39) L258H probably damaging Het
Ryr2 T C 13: 11,724,807 (GRCm39) D2502G probably damaging Het
Ryr3 G A 2: 112,633,510 (GRCm39) S2081L probably damaging Het
Sc5d G T 9: 42,171,155 (GRCm39) Y11* probably null Het
Slc25a29 A C 12: 108,793,017 (GRCm39) L187R possibly damaging Het
Slc2a7 G A 4: 150,252,721 (GRCm39) V454M probably benign Het
Slco1b2 A T 6: 141,615,114 (GRCm39) T340S probably benign Het
Smarcc1 A G 9: 109,976,172 (GRCm39) N153S possibly damaging Het
Snx1 C A 9: 65,995,821 (GRCm39) E516* probably null Het
Sptlc2 T C 12: 87,403,454 (GRCm39) D115G probably benign Het
Stard9 A G 2: 120,464,736 (GRCm39) N67S probably damaging Het
Styxl2 A C 1: 165,927,270 (GRCm39) S781A probably benign Het
Swap70 G A 7: 109,872,489 (GRCm39) R368H probably benign Het
Tcaf3 T C 6: 42,568,284 (GRCm39) K691E probably benign Het
Tmco4 T C 4: 138,781,231 (GRCm39) F465S probably damaging Het
Tmem245 A G 4: 56,926,213 (GRCm39) S290P probably benign Het
Top2a T C 11: 98,894,416 (GRCm39) T972A probably benign Het
Tpr T A 1: 150,285,898 (GRCm39) S527R probably damaging Het
Traf2 T C 2: 25,409,621 (GRCm39) D443G probably damaging Het
Trim40 A T 17: 37,194,039 (GRCm39) probably null Het
Trim42 A T 9: 97,245,456 (GRCm39) I448N possibly damaging Het
Ttll9 G A 2: 152,825,054 (GRCm39) V78M probably damaging Het
Vav1 C T 17: 57,603,039 (GRCm39) L88F probably damaging Het
Vps13b A G 15: 35,423,301 (GRCm39) D207G probably damaging Het
Wdsub1 A G 2: 59,707,009 (GRCm39) probably null Het
Zfp799 A G 17: 33,040,009 (GRCm39) W85R possibly damaging Het
Zfp839 A T 12: 110,825,203 (GRCm39) probably benign Het
Other mutations in Morc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Morc2b APN 17 33,356,293 (GRCm39) missense possibly damaging 0.47
IGL01369:Morc2b APN 17 33,357,139 (GRCm39) missense probably benign 0.12
IGL01533:Morc2b APN 17 33,354,695 (GRCm39) utr 3 prime probably benign
IGL02003:Morc2b APN 17 33,357,298 (GRCm39) missense probably benign 0.07
IGL02028:Morc2b APN 17 33,356,387 (GRCm39) missense possibly damaging 0.78
IGL02152:Morc2b APN 17 33,356,917 (GRCm39) missense probably damaging 1.00
IGL02341:Morc2b APN 17 33,356,281 (GRCm39) missense probably damaging 1.00
IGL02976:Morc2b APN 17 33,356,497 (GRCm39) missense possibly damaging 0.90
IGL03293:Morc2b APN 17 33,357,337 (GRCm39) missense probably damaging 1.00
twinkle UTSW 17 33,354,906 (GRCm39) nonsense probably null
PIT4283001:Morc2b UTSW 17 33,355,042 (GRCm39) missense probably benign 0.00
R0056:Morc2b UTSW 17 33,357,733 (GRCm39) missense possibly damaging 0.78
R0179:Morc2b UTSW 17 33,355,956 (GRCm39) nonsense probably null
R0533:Morc2b UTSW 17 33,354,906 (GRCm39) nonsense probably null
R0556:Morc2b UTSW 17 33,356,812 (GRCm39) missense probably benign 0.05
R0629:Morc2b UTSW 17 33,354,781 (GRCm39) missense probably benign 0.00
R0635:Morc2b UTSW 17 33,356,661 (GRCm39) missense possibly damaging 0.90
R0840:Morc2b UTSW 17 33,355,086 (GRCm39) missense probably benign 0.01
R1205:Morc2b UTSW 17 33,354,908 (GRCm39) missense probably damaging 1.00
R1566:Morc2b UTSW 17 33,355,948 (GRCm39) missense probably benign 0.02
R1676:Morc2b UTSW 17 33,354,955 (GRCm39) missense possibly damaging 0.82
R1892:Morc2b UTSW 17 33,354,748 (GRCm39) missense probably damaging 1.00
R1954:Morc2b UTSW 17 33,356,464 (GRCm39) missense probably damaging 1.00
R1955:Morc2b UTSW 17 33,356,464 (GRCm39) missense probably damaging 1.00
R1969:Morc2b UTSW 17 33,356,065 (GRCm39) missense probably benign 0.00
R2069:Morc2b UTSW 17 33,355,734 (GRCm39) missense probably benign 0.13
R3609:Morc2b UTSW 17 33,355,252 (GRCm39) missense probably damaging 1.00
R3610:Morc2b UTSW 17 33,355,252 (GRCm39) missense probably damaging 1.00
R3831:Morc2b UTSW 17 33,356,233 (GRCm39) missense probably benign 0.01
R4156:Morc2b UTSW 17 33,357,401 (GRCm39) missense probably benign 0.43
R4243:Morc2b UTSW 17 33,355,375 (GRCm39) missense probably benign 0.03
R4877:Morc2b UTSW 17 33,357,712 (GRCm39) missense probably benign 0.26
R4911:Morc2b UTSW 17 33,356,351 (GRCm39) missense probably damaging 1.00
R5230:Morc2b UTSW 17 33,355,226 (GRCm39) missense probably benign 0.00
R5264:Morc2b UTSW 17 33,357,353 (GRCm39) missense probably benign 0.03
R5326:Morc2b UTSW 17 33,355,907 (GRCm39) missense probably benign 0.01
R5455:Morc2b UTSW 17 33,357,584 (GRCm39) missense probably benign 0.29
R5933:Morc2b UTSW 17 33,357,583 (GRCm39) missense possibly damaging 0.84
R5973:Morc2b UTSW 17 33,356,446 (GRCm39) missense probably damaging 0.97
R6026:Morc2b UTSW 17 33,356,957 (GRCm39) missense possibly damaging 0.55
R6113:Morc2b UTSW 17 33,357,042 (GRCm39) nonsense probably null
R6393:Morc2b UTSW 17 33,356,750 (GRCm39) missense probably damaging 0.97
R7066:Morc2b UTSW 17 33,355,610 (GRCm39) missense probably benign 0.00
R7117:Morc2b UTSW 17 33,356,926 (GRCm39) missense probably benign 0.00
R7120:Morc2b UTSW 17 33,354,787 (GRCm39) missense probably damaging 1.00
R7130:Morc2b UTSW 17 33,355,262 (GRCm39) missense possibly damaging 0.68
R7498:Morc2b UTSW 17 33,356,833 (GRCm39) missense possibly damaging 0.55
R7516:Morc2b UTSW 17 33,356,435 (GRCm39) missense probably benign 0.03
R7664:Morc2b UTSW 17 33,355,376 (GRCm39) missense probably benign 0.12
R7754:Morc2b UTSW 17 33,356,218 (GRCm39) missense probably benign 0.33
R7756:Morc2b UTSW 17 33,355,981 (GRCm39) missense probably damaging 1.00
R7758:Morc2b UTSW 17 33,355,981 (GRCm39) missense probably damaging 1.00
R7766:Morc2b UTSW 17 33,357,397 (GRCm39) missense probably benign 0.19
R7957:Morc2b UTSW 17 33,354,747 (GRCm39) missense probably benign 0.39
R7965:Morc2b UTSW 17 33,354,746 (GRCm39) missense possibly damaging 0.91
R8164:Morc2b UTSW 17 33,357,014 (GRCm39) missense probably damaging 0.99
R8283:Morc2b UTSW 17 33,355,675 (GRCm39) missense probably benign 0.00
R8338:Morc2b UTSW 17 33,355,387 (GRCm39) missense probably benign
R8349:Morc2b UTSW 17 33,355,775 (GRCm39) missense probably benign 0.13
R8352:Morc2b UTSW 17 33,356,476 (GRCm39) missense probably damaging 1.00
R8362:Morc2b UTSW 17 33,357,295 (GRCm39) missense possibly damaging 0.91
R8364:Morc2b UTSW 17 33,357,214 (GRCm39) missense probably benign 0.01
R8449:Morc2b UTSW 17 33,355,775 (GRCm39) missense probably benign 0.13
R8452:Morc2b UTSW 17 33,356,476 (GRCm39) missense probably damaging 1.00
R8476:Morc2b UTSW 17 33,354,833 (GRCm39) missense possibly damaging 0.87
R8844:Morc2b UTSW 17 33,354,742 (GRCm39) missense probably damaging 1.00
R9277:Morc2b UTSW 17 33,354,997 (GRCm39) missense probably benign 0.10
R9571:Morc2b UTSW 17 33,355,178 (GRCm39) missense probably benign 0.00
Z1088:Morc2b UTSW 17 33,355,060 (GRCm39) missense possibly damaging 0.49
Z1177:Morc2b UTSW 17 33,356,376 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGCACAGCCTCTGTTTTGTCTAC -3'
(R):5'- TGAACCCTGATCCTGAACAGGACC -3'

Sequencing Primer
(F):5'- CTGTTTTGTCTACCAGAAAAGGAGG -3'
(R):5'- TCCTGAACAGGACCAGTGTG -3'
Posted On 2013-04-11