Incidental Mutation 'R5762:Ccdc187'
ID 446032
Institutional Source Beutler Lab
Gene Symbol Ccdc187
Ensembl Gene ENSMUSG00000048038
Gene Name coiled-coil domain containing 187
Synonyms 4932418E24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5762 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26161659-26184569 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26166104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 775 (P775L)
Ref Sequence ENSEMBL: ENSMUSP00000054283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057224] [ENSMUST00000217256] [ENSMUST00000227200]
AlphaFold Q8C5V8
Predicted Effect possibly damaging
Transcript: ENSMUST00000057224
AA Change: P775L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: P775L

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: P775L
Predicted Effect unknown
Transcript: ENSMUST00000227200
AA Change: P814L
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,044,445 (GRCm39) D148E probably benign Het
Abca13 A G 11: 9,531,665 (GRCm39) I4631V probably damaging Het
Adamts16 A T 13: 70,886,617 (GRCm39) W1058R probably damaging Het
Adgrf5 A G 17: 43,741,586 (GRCm39) I163V probably null Het
Ano1 T A 7: 144,201,774 (GRCm39) Y338F probably damaging Het
Atp4a A G 7: 30,418,521 (GRCm39) D603G probably damaging Het
Bmp2k GGCCCGC GGC 5: 97,235,050 (GRCm39) probably null Het
Brinp2 T C 1: 158,074,156 (GRCm39) D655G probably benign Het
C3ar1 A G 6: 122,827,321 (GRCm39) S299P probably benign Het
Calhm1 T A 19: 47,132,058 (GRCm39) probably null Het
Cd27 A G 6: 125,213,561 (GRCm39) F48S probably damaging Het
Cfap52 A G 11: 67,844,947 (GRCm39) Y41H possibly damaging Het
Cntn5 A G 9: 9,748,394 (GRCm39) S701P possibly damaging Het
Ctbp2 G T 7: 132,597,088 (GRCm39) A665D probably damaging Het
Ctsd C A 7: 141,937,266 (GRCm39) G81C probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dpysl4 C T 7: 138,671,853 (GRCm39) A67V probably benign Het
Dst C T 1: 34,218,438 (GRCm39) T1626I probably damaging Het
Etfdh A C 3: 79,523,261 (GRCm39) D217E probably null Het
Far1 T A 7: 113,167,396 (GRCm39) Y494N probably damaging Het
Fndc1 G A 17: 7,990,366 (GRCm39) T1110M unknown Het
Frmd4a G T 2: 4,488,876 (GRCm39) D78Y probably damaging Het
Fsip2 G A 2: 82,808,260 (GRCm39) M1526I probably benign Het
Ggn C T 7: 28,871,777 (GRCm39) P399S probably damaging Het
H2ac6 C T 13: 23,867,888 (GRCm39) G5S probably damaging Het
Hap1 A G 11: 100,246,600 (GRCm39) W102R probably damaging Het
Herc2 T A 7: 55,846,938 (GRCm39) S3629R possibly damaging Het
Hyal4 A C 6: 24,765,861 (GRCm39) Y405S possibly damaging Het
Ifi204 G A 1: 173,580,325 (GRCm39) T395I probably damaging Het
Igsf9 A G 1: 172,326,005 (GRCm39) E1147G probably damaging Het
Inpp5a T A 7: 139,118,097 (GRCm39) I225N possibly damaging Het
Kcnv1 T C 15: 44,972,518 (GRCm39) K455R probably damaging Het
Kmt2c T C 5: 25,515,455 (GRCm39) D2796G probably benign Het
Ngp A T 9: 110,251,401 (GRCm39) D143V probably benign Het
Nlrp5 T C 7: 23,118,264 (GRCm39) C663R possibly damaging Het
Nup205 G T 6: 35,204,615 (GRCm39) R1469L probably damaging Het
Nup205 T A 6: 35,207,483 (GRCm39) F1512I probably damaging Het
Nwd1 T C 8: 73,397,542 (GRCm39) S594P probably damaging Het
Nxpe2 A C 9: 48,230,875 (GRCm39) V498G probably benign Het
P3h4 G A 11: 100,302,677 (GRCm39) R320C probably damaging Het
Plec A G 15: 76,063,455 (GRCm39) L2273P probably damaging Het
Ppp1r14b C T 19: 6,953,951 (GRCm39) L100F probably damaging Het
Prlhr C T 19: 60,455,506 (GRCm39) W353* probably null Het
Ralgps2 C T 1: 156,660,234 (GRCm39) probably null Het
Rrp12 C T 19: 41,868,591 (GRCm39) G584D possibly damaging Het
Scamp3 T C 3: 89,088,504 (GRCm39) F237L probably damaging Het
Scn10a A G 9: 119,464,507 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shroom1 A T 11: 53,354,818 (GRCm39) D246V probably benign Het
Snapc4 T A 2: 26,268,618 (GRCm39) E14D probably damaging Het
Spag5 A T 11: 78,194,972 (GRCm39) Q93L probably benign Het
Tcstv5 T A 13: 120,411,501 (GRCm39) Q35L probably benign Het
Tle1 C T 4: 72,038,372 (GRCm39) probably null Het
Ttll10 G A 4: 156,119,438 (GRCm39) P683S possibly damaging Het
Unc13c A C 9: 73,719,649 (GRCm39) D1006E probably benign Het
Unc80 A T 1: 66,732,955 (GRCm39) K3101N possibly damaging Het
Vdac1 A G 11: 52,278,280 (GRCm39) Y247C possibly damaging Het
Vmn2r1 G A 3: 63,997,474 (GRCm39) V377I probably benign Het
Vmn2r23 A G 6: 123,710,352 (GRCm39) T552A probably damaging Het
Xrcc3 C T 12: 111,771,044 (GRCm39) R295Q probably damaging Het
Zfp780b T C 7: 27,664,243 (GRCm39) N104S probably benign Het
Zkscan17 A G 11: 59,378,397 (GRCm39) V262A possibly damaging 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
R4344:Ccdc187 UTSW 2 26,170,681 (GRCm39) missense probably damaging 1.00
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
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'- AACAGGCATGACACCCATTG -3'
(R):5'- TGCACTTCCAGTACAAGCAAG -3'

Sequencing Primer
(F):5'- ATTGTCCAGCCCTACCTTGG -3'
(R):5'- TACAAGCAAGCCCGGCTG -3'
Posted On 2016-11-21