Incidental Mutation 'R8008:Coro2a'
ID 616732
Institutional Source Beutler Lab
Gene Symbol Coro2a
Ensembl Gene ENSMUSG00000028337
Gene Name coronin, actin binding protein 2A
Synonyms 9030208C03Rik, IR10, coronin 4
MMRRC Submission 046048-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 46536937-46601929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46551349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 119 (S119T)
Ref Sequence ENSEMBL: ENSMUSP00000103386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030021] [ENSMUST00000107756] [ENSMUST00000107757]
AlphaFold Q8C0P5
Predicted Effect probably damaging
Transcript: ENSMUST00000030021
AA Change: S100T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030021
Gene: ENSMUSG00000028337
AA Change: S100T

DomainStartEndE-ValueType
DUF1899 5 69 3.93e-33 SMART
WD40 68 111 2.04e-5 SMART
WD40 121 161 1.58e-2 SMART
WD40 169 208 2.55e-6 SMART
DUF1900 261 397 9.15e-84 SMART
coiled coil region 488 521 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107756
AA Change: S100T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103385
Gene: ENSMUSG00000028337
AA Change: S100T

DomainStartEndE-ValueType
DUF1899 5 69 3.93e-33 SMART
WD40 68 111 2.04e-5 SMART
WD40 121 161 1.58e-2 SMART
WD40 169 208 2.55e-6 SMART
DUF1900 261 397 9.15e-84 SMART
coiled coil region 488 521 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107757
AA Change: S119T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103386
Gene: ENSMUSG00000028337
AA Change: S119T

DomainStartEndE-ValueType
DUF1899 24 88 3.93e-33 SMART
WD40 87 130 2.04e-5 SMART
WD40 140 180 1.58e-2 SMART
WD40 188 227 2.55e-6 SMART
DUF1900 280 416 9.15e-84 SMART
coiled coil region 507 540 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
Alpi A G 1: 87,026,384 (GRCm39) S536P unknown Het
Ankar A G 1: 72,705,643 (GRCm39) V789A possibly damaging Het
Atp5f1b C A 10: 127,919,277 (GRCm39) Q28K unknown Het
Brpf1 T C 6: 113,296,050 (GRCm39) V781A probably benign Het
Cd177 G A 7: 24,451,774 (GRCm39) S414L not run Het
Cimip3 T A 17: 47,747,661 (GRCm39) E28V probably damaging Het
Clca3b T A 3: 144,550,370 (GRCm39) T192S probably benign Het
Cpped1 T C 16: 11,646,260 (GRCm39) N164S probably damaging Het
Crybg2 T A 4: 133,818,415 (GRCm39) N1390K probably damaging Het
Epn2 C T 11: 61,437,492 (GRCm39) A27T probably damaging Het
Esp34 T C 17: 38,870,490 (GRCm39) F128S possibly damaging Het
Evpl T A 11: 116,121,298 (GRCm39) N410Y probably null Het
Flnb A G 14: 7,892,155 (GRCm38) Y608C probably damaging Het
Fpr3 T C 17: 18,191,715 (GRCm39) S329P probably benign Het
Frem2 T A 3: 53,560,331 (GRCm39) N1392I probably damaging Het
Garin2 T A 12: 78,761,817 (GRCm39) D160E probably benign Het
Gpi1 G T 7: 33,917,726 (GRCm39) N249K probably damaging Het
Gpr87 T C 3: 59,087,466 (GRCm39) N13S probably benign Het
Gys2 T C 6: 142,400,243 (GRCm39) T323A probably damaging Het
Iqgap3 T C 3: 88,016,770 (GRCm39) I1084T probably damaging Het
Lrfn4 C G 19: 4,663,565 (GRCm39) G323A probably benign Het
Lrrc4c A T 2: 97,460,594 (GRCm39) S407C possibly damaging Het
Map3k20 A T 2: 72,268,613 (GRCm39) Q540L probably benign Het
Myom1 T C 17: 71,407,057 (GRCm39) V1158A probably benign Het
Ncor2 T C 5: 125,144,983 (GRCm39) D378G unknown Het
Nhsl1 T A 10: 18,284,186 (GRCm39) D42E probably damaging Het
Nr0b2 C A 4: 133,283,339 (GRCm39) A192E probably benign Het
Nt5c1b A G 12: 10,425,000 (GRCm39) D182G possibly damaging Het
Or12d14-ps1 T C 17: 37,673,265 (GRCm39) S86P probably damaging Het
Or4c115 A T 2: 88,928,059 (GRCm39) C71S probably benign Het
Or5b119 T C 19: 13,457,170 (GRCm39) T131A probably benign Het
Or5k15 T C 16: 58,710,251 (GRCm39) T111A probably benign Het
Or8b12 A T 9: 37,658,089 (GRCm39) I220F probably damaging Het
Pepd A G 7: 34,721,126 (GRCm39) N250S probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pmp22 C T 11: 63,049,233 (GRCm39) R159C probably damaging Het
Pou3f1 C T 4: 124,552,764 (GRCm39) A422V unknown Het
Rab11fip3 A G 17: 26,286,956 (GRCm39) L399P probably damaging Het
Rragc A G 4: 123,829,340 (GRCm39) D352G probably damaging Het
Ryr2 A G 13: 11,671,980 (GRCm39) V3420A probably benign Het
Sez6 T A 11: 77,864,082 (GRCm39) Y521* probably null Het
Smc4 T C 3: 68,914,645 (GRCm39) V86A probably damaging Het
Stap2 T A 17: 56,304,790 (GRCm39) M331L probably benign Het
Syt8 G A 7: 141,992,259 (GRCm39) R89H probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trim21 G T 7: 102,209,183 (GRCm39) T280K probably benign Het
Trim36 C A 18: 46,305,556 (GRCm39) V476F probably benign Het
Troap G T 15: 98,973,511 (GRCm39) R56L probably benign Het
Ttn A T 2: 76,667,130 (GRCm39) I11492K unknown Het
Tuft1 T C 3: 94,521,440 (GRCm39) T390A probably damaging Het
Ucp1 T C 8: 84,020,640 (GRCm39) I150T probably benign Het
Usp17lb A T 7: 104,490,481 (GRCm39) C149S possibly damaging Het
Vmn1r159 A T 7: 22,542,665 (GRCm39) N122K possibly damaging Het
Vmn1r237 T C 17: 21,534,456 (GRCm39) C60R probably damaging Het
Wdr12 A T 1: 60,128,494 (GRCm39) Y85* probably null Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Wdr97 G A 15: 76,244,832 (GRCm39) E1125K Het
Zan T C 5: 137,403,624 (GRCm39) E3974G unknown Het
Other mutations in Coro2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Coro2a APN 4 46,540,455 (GRCm39) missense probably benign 0.06
IGL03093:Coro2a APN 4 46,544,158 (GRCm39) missense possibly damaging 0.93
lonewolf UTSW 4 46,542,255 (GRCm39) missense probably damaging 1.00
R1562:Coro2a UTSW 4 46,548,917 (GRCm39) missense probably benign 0.02
R1862:Coro2a UTSW 4 46,548,797 (GRCm39) missense possibly damaging 0.93
R1931:Coro2a UTSW 4 46,539,138 (GRCm39) makesense probably null
R4385:Coro2a UTSW 4 46,541,961 (GRCm39) missense possibly damaging 0.93
R5171:Coro2a UTSW 4 46,542,372 (GRCm39) intron probably benign
R5243:Coro2a UTSW 4 46,545,620 (GRCm39) missense probably damaging 1.00
R5393:Coro2a UTSW 4 46,542,255 (GRCm39) missense probably damaging 1.00
R5785:Coro2a UTSW 4 46,564,691 (GRCm39) missense probably benign 0.03
R6014:Coro2a UTSW 4 46,542,261 (GRCm39) missense probably damaging 1.00
R6184:Coro2a UTSW 4 46,540,504 (GRCm39) missense probably benign
R6264:Coro2a UTSW 4 46,562,912 (GRCm39) missense probably damaging 1.00
R6601:Coro2a UTSW 4 46,543,421 (GRCm39) nonsense probably null
R6732:Coro2a UTSW 4 46,551,374 (GRCm39) missense probably damaging 0.99
R6760:Coro2a UTSW 4 46,540,572 (GRCm39) missense probably benign
R7499:Coro2a UTSW 4 46,539,188 (GRCm39) missense probably benign 0.01
R7516:Coro2a UTSW 4 46,562,992 (GRCm39) missense probably benign 0.12
R7567:Coro2a UTSW 4 46,546,674 (GRCm39) missense probably damaging 0.99
R7816:Coro2a UTSW 4 46,546,809 (GRCm39) missense probably benign 0.01
R8236:Coro2a UTSW 4 46,548,796 (GRCm39) missense possibly damaging 0.93
R8513:Coro2a UTSW 4 46,544,117 (GRCm39) frame shift probably null
R8515:Coro2a UTSW 4 46,544,117 (GRCm39) frame shift probably null
R9024:Coro2a UTSW 4 46,542,323 (GRCm39) missense probably benign 0.34
R9113:Coro2a UTSW 4 46,563,047 (GRCm39) missense
R9445:Coro2a UTSW 4 46,540,558 (GRCm39) missense probably benign 0.00
R9534:Coro2a UTSW 4 46,548,884 (GRCm39) missense probably benign 0.00
RF012:Coro2a UTSW 4 46,542,336 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTAAGGCCCTTAGCAAGATGC -3'
(R):5'- GAGAGGCACTAAGGTCCATC -3'

Sequencing Primer
(F):5'- TTAGCAAGATGCCATGGATCC -3'
(R):5'- GAGGCACTAAGGTCCATCCTACC -3'
Posted On 2020-01-23