Incidental Mutation 'R6453:Ccdc162'
ID 520116
Institutional Source Beutler Lab
Gene Symbol Ccdc162
Ensembl Gene ENSMUSG00000075225
Gene Name coiled-coil domain containing 162
Synonyms Gm29096, Gm6976, 5033413D22Rik
MMRRC Submission 044589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6453 (G1)
Quality Score 169.009
Status Not validated
Chromosome 10
Chromosomal Location 41414838-41592586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41426821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2024 (V2024E)
Ref Sequence ENSEMBL: ENSMUSP00000140774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019955] [ENSMUST00000099932] [ENSMUST00000189488] [ENSMUST00000179614] [ENSMUST00000219054]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019955
AA Change: V187E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225
AA Change: V187E

DomainStartEndE-ValueType
coiled coil region 1 37 N/A INTRINSIC
low complexity region 116 138 N/A INTRINSIC
coiled coil region 177 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095227
SMART Domains Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225

DomainStartEndE-ValueType
coiled coil region 140 179 N/A INTRINSIC
low complexity region 304 326 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099932
AA Change: V561E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: V561E

DomainStartEndE-ValueType
coiled coil region 327 366 N/A INTRINSIC
low complexity region 490 512 N/A INTRINSIC
coiled coil region 551 607 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164074
Predicted Effect probably damaging
Transcript: ENSMUST00000189488
AA Change: V2024E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: V2024E

DomainStartEndE-ValueType
low complexity region 328 347 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179614
AA Change: V751E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: V751E

DomainStartEndE-ValueType
coiled coil region 517 556 N/A INTRINSIC
low complexity region 680 702 N/A INTRINSIC
coiled coil region 741 797 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219054
AA Change: V751E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.6%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik C T 17: 35,879,109 (GRCm39) S149L possibly damaging Het
A830018L16Rik A T 1: 11,868,782 (GRCm39) D354V possibly damaging Het
Acta2 G A 19: 34,224,057 (GRCm39) T150I probably damaging Het
Adgra1 T A 7: 139,455,343 (GRCm39) S324T probably benign Het
Ankrd44 A T 1: 54,696,863 (GRCm39) probably null Het
B430306N03Rik T A 17: 48,623,764 (GRCm39) W22R probably damaging Het
Cers6 C T 2: 68,877,513 (GRCm39) H164Y probably benign Het
Chd3 T A 11: 69,240,938 (GRCm39) K1458* probably null Het
Cimip1 A G 2: 173,370,052 (GRCm39) Y109C probably benign Het
Col3a1 G A 1: 45,378,538 (GRCm39) probably benign Het
Cyb5d2 T G 11: 72,673,586 (GRCm39) T3P probably benign Het
Dennd1b A G 1: 139,071,686 (GRCm39) Y468C probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Exoc7 T C 11: 116,184,795 (GRCm39) probably null Het
Fat2 A G 11: 55,173,042 (GRCm39) I2557T probably benign Het
Flt1 T C 5: 147,620,751 (GRCm39) D131G possibly damaging Het
Frem1 G T 4: 82,833,062 (GRCm39) S1858* probably null Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gldc A T 19: 30,093,917 (GRCm39) I700N probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria2 A G 3: 80,648,281 (GRCm39) Y152H possibly damaging Het
H2-Q2 C T 17: 35,563,871 (GRCm39) L251F probably benign Het
Hectd4 G A 5: 121,488,655 (GRCm39) G3649R probably damaging Het
Hormad1 A G 3: 95,485,568 (GRCm39) E252G probably benign Het
Kif14 A G 1: 136,410,042 (GRCm39) probably null Het
Lmcd1 A G 6: 112,292,789 (GRCm39) T214A probably benign Het
Macrod2 A G 2: 142,018,545 (GRCm39) E226G probably damaging Het
Mcm4 A T 16: 15,448,273 (GRCm39) L428Q probably damaging Het
Msh6 T A 17: 88,293,167 (GRCm39) Y641N probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nipa2 A T 7: 55,585,569 (GRCm39) M142K probably damaging Het
Or8b1c T C 9: 38,384,871 (GRCm39) I276T probably benign Het
Parvg A T 15: 84,213,126 (GRCm39) E122V probably null Het
Pclo T A 5: 14,726,803 (GRCm39) probably benign Het
Pik3cd A G 4: 149,736,759 (GRCm39) V933A probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Qpctl C T 7: 18,875,222 (GRCm39) V337I probably damaging Het
Qrfprl G A 6: 65,430,014 (GRCm39) G237S possibly damaging Het
Ralgapa1 A G 12: 55,785,104 (GRCm39) W719R probably damaging Het
Rangrf A G 11: 68,864,378 (GRCm39) L28P probably damaging Het
Rbbp9 G T 2: 144,391,054 (GRCm39) Q38K probably benign Het
Rnf169 C T 7: 99,584,434 (GRCm39) M246I probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Sdk1 A G 5: 142,082,676 (GRCm39) D1098G probably damaging Het
Sgsm3 T A 15: 80,895,515 (GRCm39) S689T probably damaging Het
Slc13a3 C T 2: 165,253,867 (GRCm39) V429M possibly damaging Het
Slc30a5 A T 13: 100,951,197 (GRCm39) D228E probably benign Het
Slc46a3 A G 5: 147,823,200 (GRCm39) I214T possibly damaging Het
Slc7a15 T C 12: 8,584,490 (GRCm39) M347V possibly damaging Het
Slc9a2 A T 1: 40,781,781 (GRCm39) I337F possibly damaging Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Speg A G 1: 75,394,616 (GRCm39) N1775S probably benign Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Sptbn2 A T 19: 4,794,208 (GRCm39) R1471W possibly damaging Het
Thada T C 17: 84,723,751 (GRCm39) E1101G probably damaging Het
Trpm6 G A 19: 18,807,354 (GRCm39) A1033T probably damaging Het
Ttll6 G A 11: 96,049,553 (GRCm39) R757H probably benign Het
Other mutations in Ccdc162
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Ccdc162 APN 10 41,457,335 (GRCm39) missense probably benign 0.01
IGL01366:Ccdc162 APN 10 41,456,302 (GRCm39) missense possibly damaging 0.49
IGL01924:Ccdc162 APN 10 41,445,883 (GRCm39) missense probably damaging 1.00
IGL02504:Ccdc162 APN 10 41,428,384 (GRCm39) missense probably damaging 1.00
IGL02678:Ccdc162 APN 10 41,437,151 (GRCm39) missense probably damaging 0.99
IGL02955:Ccdc162 APN 10 41,437,123 (GRCm39) missense probably damaging 1.00
beeswax UTSW 10 41,437,222 (GRCm39) missense possibly damaging 0.57
honeycomb UTSW 10 41,520,637 (GRCm39) missense probably benign 0.35
FR4304:Ccdc162 UTSW 10 41,432,117 (GRCm39) missense possibly damaging 0.49
R0432:Ccdc162 UTSW 10 41,417,856 (GRCm39) missense probably benign 0.01
R0585:Ccdc162 UTSW 10 41,462,375 (GRCm39) missense probably benign 0.03
R0645:Ccdc162 UTSW 10 41,462,407 (GRCm39) splice site probably benign
R0731:Ccdc162 UTSW 10 41,455,139 (GRCm39) missense probably damaging 1.00
R1426:Ccdc162 UTSW 10 41,429,178 (GRCm39) missense possibly damaging 0.89
R1447:Ccdc162 UTSW 10 41,456,243 (GRCm39) missense probably damaging 1.00
R1712:Ccdc162 UTSW 10 41,415,427 (GRCm39) missense probably benign 0.35
R2138:Ccdc162 UTSW 10 41,457,293 (GRCm39) missense probably benign 0.15
R2351:Ccdc162 UTSW 10 41,431,968 (GRCm39) critical splice donor site probably null
R2394:Ccdc162 UTSW 10 41,445,894 (GRCm39) missense probably damaging 1.00
R2431:Ccdc162 UTSW 10 41,445,841 (GRCm39) missense probably benign
R2571:Ccdc162 UTSW 10 41,428,393 (GRCm39) missense probably damaging 1.00
R2873:Ccdc162 UTSW 10 41,531,095 (GRCm39) missense possibly damaging 0.68
R2926:Ccdc162 UTSW 10 41,437,203 (GRCm39) start gained probably benign
R2999:Ccdc162 UTSW 10 41,456,286 (GRCm39) missense probably benign 0.00
R3412:Ccdc162 UTSW 10 41,415,545 (GRCm39) splice site probably benign
R3712:Ccdc162 UTSW 10 41,463,375 (GRCm39) missense probably benign
R3736:Ccdc162 UTSW 10 41,465,564 (GRCm39) splice site probably null
R4112:Ccdc162 UTSW 10 41,532,324 (GRCm39) missense possibly damaging 0.77
R4557:Ccdc162 UTSW 10 41,463,384 (GRCm39) missense probably benign 0.01
R4580:Ccdc162 UTSW 10 41,437,136 (GRCm39) missense probably benign 0.02
R4685:Ccdc162 UTSW 10 41,557,682 (GRCm39) missense possibly damaging 0.89
R4837:Ccdc162 UTSW 10 41,549,863 (GRCm39) missense probably benign 0.00
R5155:Ccdc162 UTSW 10 41,455,147 (GRCm39) missense probably damaging 1.00
R5155:Ccdc162 UTSW 10 41,429,576 (GRCm39) splice site probably null
R5645:Ccdc162 UTSW 10 41,428,352 (GRCm39) missense probably benign 0.06
R5656:Ccdc162 UTSW 10 41,445,930 (GRCm39) missense probably benign 0.26
R5682:Ccdc162 UTSW 10 41,432,799 (GRCm39) nonsense probably null
R5808:Ccdc162 UTSW 10 41,531,500 (GRCm39) missense possibly damaging 0.62
R5909:Ccdc162 UTSW 10 41,437,111 (GRCm39) missense probably damaging 1.00
R6000:Ccdc162 UTSW 10 41,437,159 (GRCm39) missense possibly damaging 0.75
R6057:Ccdc162 UTSW 10 41,510,037 (GRCm39) missense possibly damaging 0.72
R6211:Ccdc162 UTSW 10 41,506,141 (GRCm39) nonsense probably null
R6264:Ccdc162 UTSW 10 41,570,464 (GRCm39) missense probably benign 0.31
R6329:Ccdc162 UTSW 10 41,539,147 (GRCm39) missense possibly damaging 0.76
R6349:Ccdc162 UTSW 10 41,570,396 (GRCm39) missense probably damaging 0.97
R6398:Ccdc162 UTSW 10 41,503,145 (GRCm39) missense probably damaging 1.00
R6602:Ccdc162 UTSW 10 41,491,976 (GRCm39) missense probably benign 0.00
R6627:Ccdc162 UTSW 10 41,539,181 (GRCm39) missense probably damaging 1.00
R6722:Ccdc162 UTSW 10 41,520,637 (GRCm39) missense probably benign 0.35
R6750:Ccdc162 UTSW 10 41,437,222 (GRCm39) missense possibly damaging 0.57
R6968:Ccdc162 UTSW 10 41,549,840 (GRCm39) missense possibly damaging 0.55
R6970:Ccdc162 UTSW 10 41,491,954 (GRCm39) missense probably benign 0.03
R6989:Ccdc162 UTSW 10 41,457,349 (GRCm39) missense probably damaging 0.99
R7008:Ccdc162 UTSW 10 41,428,411 (GRCm39) missense probably damaging 1.00
R7135:Ccdc162 UTSW 10 41,549,855 (GRCm39) missense probably benign 0.00
R7139:Ccdc162 UTSW 10 41,542,717 (GRCm39) missense possibly damaging 0.49
R7224:Ccdc162 UTSW 10 41,437,187 (GRCm39) missense probably damaging 1.00
R7230:Ccdc162 UTSW 10 41,554,809 (GRCm39) missense probably damaging 1.00
R7256:Ccdc162 UTSW 10 41,431,997 (GRCm39) missense probably damaging 0.99
R7261:Ccdc162 UTSW 10 41,437,136 (GRCm39) missense probably benign 0.02
R7390:Ccdc162 UTSW 10 41,510,044 (GRCm39) missense probably benign
R7712:Ccdc162 UTSW 10 41,503,223 (GRCm39) missense possibly damaging 0.56
R7726:Ccdc162 UTSW 10 41,429,071 (GRCm39) missense probably benign 0.00
R7754:Ccdc162 UTSW 10 41,463,371 (GRCm39) missense probably damaging 1.00
R7764:Ccdc162 UTSW 10 41,566,109 (GRCm39) missense possibly damaging 0.95
R8053:Ccdc162 UTSW 10 41,520,577 (GRCm39) missense probably benign
R8088:Ccdc162 UTSW 10 41,499,410 (GRCm39) missense possibly damaging 0.68
R8094:Ccdc162 UTSW 10 41,488,864 (GRCm39) missense probably benign 0.02
R8097:Ccdc162 UTSW 10 41,510,115 (GRCm39) missense probably benign 0.03
R8321:Ccdc162 UTSW 10 41,510,029 (GRCm39) missense probably damaging 0.98
R8377:Ccdc162 UTSW 10 41,457,306 (GRCm39) missense probably benign 0.08
R8399:Ccdc162 UTSW 10 41,415,517 (GRCm39) missense probably damaging 1.00
R8669:Ccdc162 UTSW 10 41,428,352 (GRCm39) missense probably benign 0.06
R8772:Ccdc162 UTSW 10 41,506,033 (GRCm39) missense probably damaging 0.99
R8810:Ccdc162 UTSW 10 41,542,737 (GRCm39) missense probably benign 0.41
R8903:Ccdc162 UTSW 10 41,531,440 (GRCm39) critical splice donor site probably null
R8928:Ccdc162 UTSW 10 41,462,245 (GRCm39) splice site probably benign
R8950:Ccdc162 UTSW 10 41,474,507 (GRCm39) missense probably benign 0.00
R8960:Ccdc162 UTSW 10 41,429,178 (GRCm39) missense probably damaging 0.96
R8985:Ccdc162 UTSW 10 41,432,102 (GRCm39) missense probably damaging 1.00
R9071:Ccdc162 UTSW 10 41,457,174 (GRCm39) nonsense probably null
R9254:Ccdc162 UTSW 10 41,488,944 (GRCm39) critical splice acceptor site probably null
R9297:Ccdc162 UTSW 10 41,506,110 (GRCm39) missense probably benign
R9318:Ccdc162 UTSW 10 41,506,110 (GRCm39) missense probably benign
R9518:Ccdc162 UTSW 10 41,465,572 (GRCm39) missense probably damaging 1.00
R9525:Ccdc162 UTSW 10 41,559,222 (GRCm39) missense probably damaging 0.99
R9539:Ccdc162 UTSW 10 41,463,407 (GRCm39) missense possibly damaging 0.54
R9638:Ccdc162 UTSW 10 41,437,159 (GRCm39) missense probably benign 0.01
Z1176:Ccdc162 UTSW 10 41,530,993 (GRCm39) missense possibly damaging 0.84
Z1176:Ccdc162 UTSW 10 41,481,104 (GRCm39) missense possibly damaging 0.84
Z1176:Ccdc162 UTSW 10 41,429,127 (GRCm39) missense probably benign 0.00
Z1176:Ccdc162 UTSW 10 41,566,088 (GRCm39) missense probably benign 0.00
Z1177:Ccdc162 UTSW 10 41,559,191 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTGCCTAGAACTGACAGAGG -3'
(R):5'- ACTATGTCACCTAGCCTCACTG -3'

Sequencing Primer
(F):5'- CTGTGAGGGGAACAGAGAGTCC -3'
(R):5'- GATCTCTGTTGCTAGCTGCTGAC -3'
Posted On 2018-06-06