Incidental Mutation 'R3971:Coro2b'
ID 310976
Institutional Source Beutler Lab
Gene Symbol Coro2b
Ensembl Gene ENSMUSG00000041729
Gene Name coronin, actin binding protein, 2B
Synonyms E130012P22Rik
MMRRC Submission 040839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R3971 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 62326774-62444326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62336522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 251 (A251T)
Ref Sequence ENSEMBL: ENSMUSP00000041826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048043] [ENSMUST00000164246] [ENSMUST00000173171] [ENSMUST00000174439]
AlphaFold Q8BH44
Predicted Effect possibly damaging
Transcript: ENSMUST00000048043
AA Change: A251T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: A251T

DomainStartEndE-ValueType
DUF1899 10 74 2.89e-31 SMART
WD40 73 116 8.75e-5 SMART
WD40 126 166 4.95e-4 SMART
WD40 169 208 1.33e-4 SMART
WD40 211 254 2.56e1 SMART
DUF1900 261 397 1.62e-84 SMART
coiled coil region 436 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131981
SMART Domains Protein: ENSMUSP00000133481
Gene: ENSMUSG00000041729

DomainStartEndE-ValueType
DUF1900 3 97 6.37e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151604
Predicted Effect probably benign
Transcript: ENSMUST00000164246
AA Change: A246T

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: A246T

DomainStartEndE-ValueType
DUF1899 5 69 2.89e-31 SMART
WD40 68 111 8.75e-5 SMART
WD40 121 161 4.95e-4 SMART
WD40 164 203 1.33e-4 SMART
WD40 206 249 2.56e1 SMART
DUF1900 256 317 5.33e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173171
SMART Domains Protein: ENSMUSP00000134709
Gene: ENSMUSG00000041729

DomainStartEndE-ValueType
DUF1899 16 80 2.89e-31 SMART
Pfam:WD40 87 121 1.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174439
SMART Domains Protein: ENSMUSP00000134079
Gene: ENSMUSG00000041729

DomainStartEndE-ValueType
WD40 1 41 4.95e-4 SMART
WD40 44 83 1.33e-4 SMART
Meta Mutation Damage Score 0.3063 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 95% (38/40)
MGI Phenotype PHENOTYPE: Homozygous knockout reduces susceptibility to Doxorubicin-induced focal segmental glomerulosclerosis with lower levels of proteinuria and less renal glomerulus damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,971,615 (GRCm39) P147L probably damaging Het
Apbb1ip T A 2: 22,713,506 (GRCm39) D120E unknown Het
Atp10b A G 11: 43,107,339 (GRCm39) D791G probably damaging Het
Aunip A G 4: 134,250,780 (GRCm39) K242E possibly damaging Het
Ccdc80 A G 16: 44,916,183 (GRCm39) E313G probably benign Het
Cd72 C T 4: 43,449,491 (GRCm39) R275H probably damaging Het
Chrnb1 A G 11: 69,683,742 (GRCm39) probably benign Het
Cspg4b A G 13: 113,453,660 (GRCm39) E41G probably damaging Het
Ddr2 A G 1: 169,815,986 (GRCm39) F574L probably damaging Het
Dock1 G A 7: 134,348,637 (GRCm39) D284N probably damaging Het
Dync1h1 A G 12: 110,632,399 (GRCm39) H4506R probably benign Het
Fam174b T C 7: 73,416,348 (GRCm39) V147A probably damaging Het
Glp2r T A 11: 67,637,641 (GRCm39) D130V possibly damaging Het
Gm18856 A T 13: 14,139,433 (GRCm39) probably benign Het
Gm7247 A G 14: 51,602,841 (GRCm39) Y59C probably damaging Het
Hecw1 T C 13: 14,411,514 (GRCm39) D1062G probably damaging Het
Ifit2 A G 19: 34,551,441 (GRCm39) E327G probably benign Het
Ighv1-37 A T 12: 114,860,079 (GRCm39) S43T probably damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mcoln1 T A 8: 3,557,408 (GRCm39) I138K probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mrc2 G A 11: 105,218,857 (GRCm39) D193N possibly damaging Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nckap1l A G 15: 103,370,987 (GRCm39) K189E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or6c69 T C 10: 129,747,742 (GRCm39) N135S probably benign Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Psma8 A G 18: 14,890,444 (GRCm39) K195E possibly damaging Het
Rbm25 A G 12: 83,721,982 (GRCm39) T723A probably benign Het
Sema3b A G 9: 107,477,567 (GRCm39) S485P probably benign Het
Slc12a2 T A 18: 58,063,268 (GRCm39) L916Q possibly damaging Het
Spata31d1a T A 13: 59,849,971 (GRCm39) D719V possibly damaging Het
Synj1 A G 16: 90,788,491 (GRCm39) S86P probably damaging Het
Tmem130 T A 5: 144,692,131 (GRCm39) H91L probably benign Het
Tsc2 T C 17: 24,842,562 (GRCm39) D288G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps35l T C 7: 118,433,022 (GRCm39) I585T probably damaging Het
Wac T C 18: 7,916,175 (GRCm39) V303A probably damaging Het
Zfhx2 A G 14: 55,311,932 (GRCm39) V254A probably benign Het
Zfp993 A G 4: 146,742,089 (GRCm39) T138A probably benign Het
Other mutations in Coro2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Coro2b APN 9 62,333,090 (GRCm39) missense probably damaging 0.99
IGL01834:Coro2b APN 9 62,338,639 (GRCm39) missense possibly damaging 0.93
IGL03242:Coro2b APN 9 62,336,243 (GRCm39) nonsense probably null
PIT4151001:Coro2b UTSW 9 62,336,286 (GRCm39) missense probably damaging 1.00
R0422:Coro2b UTSW 9 62,335,259 (GRCm39) missense probably benign 0.00
R0835:Coro2b UTSW 9 62,333,119 (GRCm39) missense possibly damaging 0.68
R0944:Coro2b UTSW 9 62,335,263 (GRCm39) missense probably benign 0.08
R1115:Coro2b UTSW 9 62,338,609 (GRCm39) missense probably damaging 0.96
R1254:Coro2b UTSW 9 62,336,247 (GRCm39) missense probably damaging 0.98
R1422:Coro2b UTSW 9 62,336,229 (GRCm39) critical splice donor site probably null
R1532:Coro2b UTSW 9 62,396,705 (GRCm39) missense probably damaging 1.00
R1543:Coro2b UTSW 9 62,333,123 (GRCm39) missense probably benign 0.32
R3424:Coro2b UTSW 9 62,336,590 (GRCm39) splice site probably null
R3972:Coro2b UTSW 9 62,336,522 (GRCm39) missense possibly damaging 0.55
R4035:Coro2b UTSW 9 62,333,071 (GRCm39) unclassified probably benign
R4233:Coro2b UTSW 9 62,333,467 (GRCm39) missense possibly damaging 0.69
R4734:Coro2b UTSW 9 62,333,860 (GRCm39) missense probably benign 0.02
R4825:Coro2b UTSW 9 62,361,905 (GRCm39) missense probably benign 0.30
R5332:Coro2b UTSW 9 62,336,512 (GRCm39) missense probably damaging 0.97
R5702:Coro2b UTSW 9 62,333,859 (GRCm39) missense probably damaging 0.97
R6474:Coro2b UTSW 9 62,333,910 (GRCm39) missense probably benign 0.16
R6500:Coro2b UTSW 9 62,396,606 (GRCm39) missense probably benign 0.24
R6674:Coro2b UTSW 9 62,339,709 (GRCm39) missense probably damaging 1.00
R7102:Coro2b UTSW 9 62,328,667 (GRCm39) missense possibly damaging 0.81
R7347:Coro2b UTSW 9 62,396,654 (GRCm39) missense probably benign
R8199:Coro2b UTSW 9 62,336,302 (GRCm39) missense probably benign 0.00
R8447:Coro2b UTSW 9 62,333,842 (GRCm39) missense probably damaging 1.00
R8970:Coro2b UTSW 9 62,333,809 (GRCm39) unclassified probably benign
R9023:Coro2b UTSW 9 62,332,978 (GRCm39) missense
R9211:Coro2b UTSW 9 62,427,662 (GRCm39) missense probably benign 0.06
R9325:Coro2b UTSW 9 62,396,609 (GRCm39) missense probably benign
R9443:Coro2b UTSW 9 62,333,080 (GRCm39) missense probably benign 0.21
R9516:Coro2b UTSW 9 62,335,291 (GRCm39) nonsense probably null
R9653:Coro2b UTSW 9 62,335,259 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGGTCAGGCTGCATCT -3'
(R):5'- TGCATGTGTTGGAGAAGGAG -3'

Sequencing Primer
(F):5'- CTAAGAAGAGAGTGTGGCTCCTTCC -3'
(R):5'- CTCTTACAAAGACCCTGGTGATGG -3'
Posted On 2015-04-29