Incidental Mutation 'R0356:Ccdc62'
ID 29820
Institutional Source Beutler Lab
Gene Symbol Ccdc62
Ensembl Gene ENSMUSG00000061882
Gene Name coiled-coil domain containing 62
Synonyms repro29, LOC208908, G1-485-3
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 124068742-124107958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124092811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 599 (V599I)
Ref Sequence ENSEMBL: ENSMUSP00000127483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094320] [ENSMUST00000165148]
AlphaFold E9PVD1
Predicted Effect probably benign
Transcript: ENSMUST00000094320
AA Change: V599I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
AA Change: V599I

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165148
AA Change: V599I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
AA Change: V599I

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169898
SMART Domains Protein: ENSMUSP00000132294
Gene: ENSMUSG00000061882

DomainStartEndE-ValueType
coiled coil region 31 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171881
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
MGI Phenotype PHENOTYPE: Homozygotes for an ENU-induced mutation or a deletion knockout exhibit male reproductive abnormalities including infertility, low sperm count, abnormal sperm head and tail morphology, very low sperm motility, and low seminal vesicle weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Ccdc62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Ccdc62 APN 5 124,092,639 (GRCm39) missense possibly damaging 0.83
IGL02491:Ccdc62 APN 5 124,099,378 (GRCm39) missense probably damaging 1.00
IGL02634:Ccdc62 APN 5 124,092,320 (GRCm39) missense probably benign 0.03
IGL02938:Ccdc62 APN 5 124,072,247 (GRCm39) missense probably benign 0.30
IGL03274:Ccdc62 APN 5 124,092,743 (GRCm39) missense probably benign 0.00
IGL03293:Ccdc62 APN 5 124,089,288 (GRCm39) missense possibly damaging 0.95
Condensed UTSW 5 124,072,156 (GRCm39) missense probably benign 0.00
R3915:Ccdc62 UTSW 5 124,092,778 (GRCm39) missense probably damaging 1.00
R4708:Ccdc62 UTSW 5 124,068,925 (GRCm39) critical splice donor site probably null
R5731:Ccdc62 UTSW 5 124,089,352 (GRCm39) critical splice donor site probably null
R6354:Ccdc62 UTSW 5 124,082,267 (GRCm39) missense probably damaging 0.96
R6681:Ccdc62 UTSW 5 124,072,156 (GRCm39) missense probably benign 0.00
R7340:Ccdc62 UTSW 5 124,089,283 (GRCm39) missense probably damaging 1.00
R8325:Ccdc62 UTSW 5 124,092,448 (GRCm39) missense probably benign 0.28
R8418:Ccdc62 UTSW 5 124,084,455 (GRCm39) nonsense probably null
R8845:Ccdc62 UTSW 5 124,092,470 (GRCm39) missense probably benign
R9217:Ccdc62 UTSW 5 124,092,470 (GRCm39) missense probably benign
R9294:Ccdc62 UTSW 5 124,092,772 (GRCm39) missense possibly damaging 0.79
R9518:Ccdc62 UTSW 5 124,089,288 (GRCm39) missense possibly damaging 0.95
R9536:Ccdc62 UTSW 5 124,092,749 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAATGACCTGTCCGAGTCCAAGTG -3'
(R):5'- AAACCTCTGCCTTAGAAGCTGCC -3'

Sequencing Primer
(F):5'- AGTCCAAGTGCTGCCAC -3'
(R):5'- AAAGACCCCTGTGTCTATGCG -3'
Posted On 2013-04-24