Incidental Mutation 'R7230:Ccdc162'
ID 562424
Institutional Source Beutler Lab
Gene Symbol Ccdc162
Ensembl Gene ENSMUSG00000075225
Gene Name coiled-coil domain containing 162
Synonyms Gm29096, Gm6976, 5033413D22Rik
MMRRC Submission 045302-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7230 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 41414838-41592586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41554809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 285 (L285P)
Ref Sequence ENSEMBL: ENSMUSP00000140774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019955] [ENSMUST00000099932] [ENSMUST00000189488] [ENSMUST00000190522]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019955
SMART Domains Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225

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: ENSMUST00000099932
SMART Domains Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225

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 probably damaging
Transcript: ENSMUST00000189488
AA Change: L285P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: L285P

DomainStartEndE-ValueType
low complexity region 328 347 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190522
AA Change: L285P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140852
Gene: ENSMUSG00000100855
AA Change: L285P

DomainStartEndE-ValueType
Pfam:DUF4549 2 145 7.9e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190522
AA Change: L285P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A C 7: 45,766,812 (GRCm39) D989E probably benign Het
Adad1 A G 3: 37,119,315 (GRCm39) Y132C probably damaging Het
Adam33 A T 2: 130,895,483 (GRCm39) C579S probably damaging Het
Adam6a A C 12: 113,509,202 (GRCm39) Q525P probably damaging Het
Alpk3 C T 7: 80,743,042 (GRCm39) P953L probably damaging Het
Arb2a G A 13: 77,907,591 (GRCm39) E5K probably damaging Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Bpgm A G 6: 34,464,502 (GRCm39) E73G possibly damaging Het
Cab39 T A 1: 85,775,880 (GRCm39) probably null Het
Ccdc30 T C 4: 119,196,979 (GRCm39) E429G possibly damaging Het
Cct3 C T 3: 88,220,567 (GRCm39) R260W probably damaging Het
Chd1 C A 17: 15,927,199 (GRCm39) probably null Het
Cxcr4 T G 1: 128,517,527 (GRCm39) T45P probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dlec1 T G 9: 118,953,606 (GRCm39) probably null Het
Dram2 T G 3: 106,480,294 (GRCm39) Y202* probably null Het
Etl4 C A 2: 20,802,799 (GRCm39) T1035K probably damaging Het
F5 T C 1: 164,012,522 (GRCm39) F479L probably benign Het
Frrs1l C A 4: 56,972,372 (GRCm39) G110W probably damaging Het
Gpbp1l1 T A 4: 116,445,807 (GRCm39) I303N probably damaging Het
Grik5 A G 7: 24,722,495 (GRCm39) F538S probably damaging Het
Hgsnat C A 8: 26,444,860 (GRCm39) probably null Het
Hs2st1 T C 3: 144,140,307 (GRCm39) D338G probably benign Het
Impdh1 T C 6: 29,206,062 (GRCm39) probably null Het
Ipo9 T C 1: 135,334,496 (GRCm39) probably benign Het
Kdm4b T G 17: 56,676,155 (GRCm39) L220R probably damaging Het
Map1a T A 2: 121,131,299 (GRCm39) F705Y probably damaging Het
Med22 C T 2: 26,798,223 (GRCm39) D99N probably benign Het
Muc6 T C 7: 141,235,479 (GRCm39) Y519C probably damaging Het
Myt1l A G 12: 29,833,873 (GRCm39) I25M probably damaging Het
Ncam1 T A 9: 49,421,123 (GRCm39) I731F probably benign Het
Nlrp4f T A 13: 65,342,715 (GRCm39) H310L probably benign Het
Or2ag1b A T 7: 106,288,731 (GRCm39) M69K possibly damaging Het
Or2ag2b C A 7: 106,417,386 (GRCm39) T32K possibly damaging Het
Or4f14 T A 2: 111,742,906 (GRCm39) Y123F probably damaging Het
Or4k40 A T 2: 111,251,261 (GRCm39) F12I probably damaging Het
Prl8a6 T A 13: 27,617,021 (GRCm39) Y223F probably benign Het
Prss39 A G 1: 34,541,228 (GRCm39) D244G probably damaging Het
Ptx4 A T 17: 25,342,077 (GRCm39) Q184L possibly damaging Het
Slc26a1 A T 5: 108,819,611 (GRCm39) D545E probably damaging Het
Slc7a12 T C 3: 14,570,441 (GRCm39) S398P probably damaging Het
Slc9a4 T C 1: 40,639,931 (GRCm39) V241A probably damaging Het
Snw1 T C 12: 87,511,324 (GRCm39) D109G probably damaging Het
Syne2 T A 12: 75,980,674 (GRCm39) I1477K probably benign Het
Timd4 A T 11: 46,701,691 (GRCm39) Y18F probably benign Het
Tmprss2 A G 16: 97,379,797 (GRCm39) Y168H probably benign Het
Ttn A T 2: 76,569,044 (GRCm39) I27283K probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vasn C T 16: 4,467,486 (GRCm39) R478C probably benign Het
Zfp58 A T 13: 67,640,082 (GRCm39) C136* probably null 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
R6453:Ccdc162 UTSW 10 41,426,821 (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
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'- AAGGAGGCTCTTCCCAACAG -3'
(R):5'- GCTTCCAACTCTCTCCAAGG -3'

Sequencing Primer
(F):5'- GTATCAGGAGTTCAAGGTCACCCTC -3'
(R):5'- AAGGCCATCTGCTGTCTCTG -3'
Posted On 2019-06-26