Incidental Mutation 'R4344:Ccdc187'
ID 324248
Institutional Source Beutler Lab
Gene Symbol Ccdc187
Ensembl Gene ENSMUSG00000048038
Gene Name coiled-coil domain containing 187
Synonyms 4932418E24Rik
MMRRC Submission 041101-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R4344 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26161659-26184569 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26170681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 599 (K599I)
Ref Sequence ENSEMBL: ENSMUSP00000054283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057224] [ENSMUST00000217256] [ENSMUST00000227200]
AlphaFold Q8C5V8
Predicted Effect probably damaging
Transcript: ENSMUST00000057224
AA Change: K599I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: K599I

DomainStartEndE-ValueType
low complexity region 116 132 N/A INTRINSIC
low complexity region 536 557 N/A INTRINSIC
coiled coil region 605 632 N/A INTRINSIC
coiled coil region 717 745 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000217256
AA Change: K599I
Predicted Effect unknown
Transcript: ENSMUST00000227200
AA Change: K638I
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,865,829 (GRCm39) R5S possibly damaging Het
Ccdc168 G A 1: 44,100,151 (GRCm39) L316F possibly damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Cep19 C T 16: 31,925,883 (GRCm39) T97M probably damaging Het
Ces2a T G 8: 105,463,766 (GRCm39) D159E probably damaging Het
Dcc G A 18: 71,507,561 (GRCm39) A917V probably damaging Het
Dennd6b G A 15: 89,072,866 (GRCm39) A196V probably benign Het
Dlgap3 T C 4: 127,108,141 (GRCm39) S475P possibly damaging Het
Doc2a C T 7: 126,450,321 (GRCm39) P156S probably damaging Het
Elmo1 T A 13: 20,445,722 (GRCm39) probably null Het
Fbf1 A G 11: 116,038,568 (GRCm39) V851A probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Klk1b8 C A 7: 43,595,186 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,264,968 (GRCm39) probably benign Het
Lyst T A 13: 13,873,051 (GRCm39) I2750K probably benign Het
Muc4 A G 16: 32,590,666 (GRCm39) N2958S possibly damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ppp1r16b G A 2: 158,591,106 (GRCm39) V163I probably damaging Het
Prkdc T A 16: 15,585,886 (GRCm39) W2475R probably damaging Het
Rad54l C T 4: 115,954,551 (GRCm39) C684Y probably damaging Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rasef T A 4: 73,663,326 (GRCm39) H167L probably damaging Het
Sh3bp2 T C 5: 34,712,886 (GRCm39) F165L possibly damaging Het
Slc38a9 T C 13: 112,865,749 (GRCm39) I482T probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Trpm3 A T 19: 22,875,061 (GRCm39) S568C probably damaging Het
Ttc39c T A 18: 12,861,667 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn2r22 C T 6: 123,614,756 (GRCm39) G278D probably damaging Het
Yme1l1 G A 2: 23,063,073 (GRCm39) A215T probably benign Het
Zmynd15 C T 11: 70,351,894 (GRCm39) R38* probably null Het
Other mutations in Ccdc187
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Ccdc187 APN 2 26,170,960 (GRCm39) missense probably benign
IGL02989:Ccdc187 APN 2 26,166,443 (GRCm39) missense possibly damaging 0.92
IGL03017:Ccdc187 APN 2 26,170,978 (GRCm39) missense probably benign
IGL03059:Ccdc187 APN 2 26,184,253 (GRCm39) missense probably null 1.00
IGL03117:Ccdc187 APN 2 26,177,980 (GRCm39) missense possibly damaging 0.95
R0026:Ccdc187 UTSW 2 26,171,365 (GRCm39) missense probably benign 0.00
R0144:Ccdc187 UTSW 2 26,166,215 (GRCm39) missense probably damaging 0.98
R1078:Ccdc187 UTSW 2 26,184,389 (GRCm39) missense probably damaging 0.98
R1226:Ccdc187 UTSW 2 26,166,133 (GRCm39) missense probably damaging 0.99
R1624:Ccdc187 UTSW 2 26,171,087 (GRCm39) missense probably benign
R1733:Ccdc187 UTSW 2 26,183,670 (GRCm39) missense possibly damaging 0.93
R1851:Ccdc187 UTSW 2 26,166,080 (GRCm39) missense probably benign 0.17
R2304:Ccdc187 UTSW 2 26,171,029 (GRCm39) missense possibly damaging 0.94
R4278:Ccdc187 UTSW 2 26,172,239 (GRCm39) intron probably benign
R5151:Ccdc187 UTSW 2 26,183,451 (GRCm39) missense probably damaging 1.00
R5416:Ccdc187 UTSW 2 26,166,104 (GRCm39) missense possibly damaging 0.87
R5537:Ccdc187 UTSW 2 26,166,237 (GRCm39) missense probably benign 0.32
R5761:Ccdc187 UTSW 2 26,166,104 (GRCm39) missense possibly damaging 0.87
R5762:Ccdc187 UTSW 2 26,166,104 (GRCm39) missense possibly damaging 0.87
R5865:Ccdc187 UTSW 2 26,183,380 (GRCm39) missense probably benign 0.00
R5925:Ccdc187 UTSW 2 26,183,593 (GRCm39) missense probably benign
R6261:Ccdc187 UTSW 2 26,166,215 (GRCm39) missense probably damaging 0.98
R6803:Ccdc187 UTSW 2 26,179,791 (GRCm39) missense probably benign 0.02
R6888:Ccdc187 UTSW 2 26,179,746 (GRCm39) missense probably damaging 0.98
R6958:Ccdc187 UTSW 2 26,179,731 (GRCm39) missense probably benign
R7006:Ccdc187 UTSW 2 26,171,102 (GRCm39) missense probably benign 0.05
R7358:Ccdc187 UTSW 2 26,146,007 (GRCm39) missense probably damaging 0.97
R7818:Ccdc187 UTSW 2 26,166,186 (GRCm39) missense possibly damaging 0.61
R8048:Ccdc187 UTSW 2 26,183,526 (GRCm39) missense possibly damaging 0.53
R8327:Ccdc187 UTSW 2 26,170,630 (GRCm39) missense probably benign 0.01
R8353:Ccdc187 UTSW 2 26,166,458 (GRCm39) missense probably damaging 0.99
R8425:Ccdc187 UTSW 2 26,171,548 (GRCm39) missense probably damaging 0.99
R8453:Ccdc187 UTSW 2 26,166,458 (GRCm39) missense probably damaging 0.99
R8461:Ccdc187 UTSW 2 26,183,814 (GRCm39) missense probably damaging 0.99
R8534:Ccdc187 UTSW 2 26,165,577 (GRCm39) missense possibly damaging 0.61
R8694:Ccdc187 UTSW 2 26,165,505 (GRCm39) missense probably benign 0.02
R8745:Ccdc187 UTSW 2 26,170,526 (GRCm39) missense probably damaging 0.99
R8958:Ccdc187 UTSW 2 26,165,577 (GRCm39) missense probably benign 0.02
R8972:Ccdc187 UTSW 2 26,171,079 (GRCm39) missense probably benign
R9214:Ccdc187 UTSW 2 26,183,409 (GRCm39) missense probably benign 0.19
R9454:Ccdc187 UTSW 2 26,166,114 (GRCm39) missense possibly damaging 0.94
R9542:Ccdc187 UTSW 2 26,145,930 (GRCm39) missense possibly damaging 0.66
R9562:Ccdc187 UTSW 2 26,183,698 (GRCm39) missense possibly damaging 0.90
R9565:Ccdc187 UTSW 2 26,183,698 (GRCm39) missense possibly damaging 0.90
R9601:Ccdc187 UTSW 2 26,143,445 (GRCm39) missense possibly damaging 0.90
R9702:Ccdc187 UTSW 2 26,172,222 (GRCm39) missense unknown
R9727:Ccdc187 UTSW 2 26,171,204 (GRCm39) missense probably damaging 0.99
R9790:Ccdc187 UTSW 2 26,171,227 (GRCm39) missense probably benign
R9791:Ccdc187 UTSW 2 26,171,227 (GRCm39) missense probably benign
Z1176:Ccdc187 UTSW 2 26,171,519 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACATACCCCAGACTGCATGG -3'
(R):5'- AGTAATTCTTTTGTGCAGAGGTCC -3'

Sequencing Primer
(F):5'- TGGGAACAAAAGTGACGATGCC -3'
(R):5'- TTTGTGCAGAGGTCCAGTCCC -3'
Posted On 2015-06-24