Incidental Mutation 'R1566:Morc2b'
ID 175308
Institutional Source Beutler Lab
Gene Symbol Morc2b
Ensembl Gene ENSMUSG00000048602
Gene Name microrchidia 2B
Synonyms 4932411A10Rik
MMRRC Submission 039605-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R1566 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 33354562-33369473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33355948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 608 (H608L)
Ref Sequence ENSEMBL: ENSMUSP00000123354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]
AlphaFold Q8C5W4
Predicted Effect probably benign
Transcript: ENSMUST00000053896
AA Change: H608L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: H608L

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 benign
Transcript: ENSMUST00000131954
AA Change: H608L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: H608L

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly damaging 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
R0116:Morc2b UTSW 17 33,356,015 (GRCm39) missense probably damaging 1.00
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
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'- CTGAAGCAGAAGATTCCTCTGG -3'
Posted On 2014-04-24