Incidental Mutation 'R0835:Coro2b'
ID 77836
Institutional Source Beutler Lab
Gene Symbol Coro2b
Ensembl Gene ENSMUSG00000041729
Gene Name coronin, actin binding protein, 2B
Synonyms E130012P22Rik
MMRRC Submission 039014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R0835 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 62326774-62444326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62333119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 422 (N422S)
Ref Sequence ENSEMBL: ENSMUSP00000041826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048043] [ENSMUST00000164246] [ENSMUST00000174439]
AlphaFold Q8BH44
Predicted Effect possibly damaging
Transcript: ENSMUST00000048043
AA Change: N422S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: N422S

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 unknown
Transcript: ENSMUST00000131981
AA Change: N121S
SMART Domains Protein: ENSMUSP00000133481
Gene: ENSMUSG00000041729
AA Change: N121S

DomainStartEndE-ValueType
DUF1900 3 97 6.37e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151604
Predicted Effect probably benign
Transcript: ENSMUST00000164246
SMART Domains Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729

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: ENSMUST00000174439
SMART Domains Protein: ENSMUSP00000134079
Gene: ENSMUSG00000041729

DomainStartEndE-ValueType
WD40 1 41 4.95e-4 SMART
WD40 44 83 1.33e-4 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 90.7%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G T 6: 146,855,036 (GRCm39) probably benign Het
Abca16 A G 7: 120,065,007 (GRCm39) T555A probably benign Het
Abca4 A T 3: 121,919,862 (GRCm39) D1048V probably damaging Het
Abcf2 G T 5: 24,779,251 (GRCm39) T99N probably damaging Het
Acan A T 7: 78,763,980 (GRCm39) S2119C probably damaging Het
Adgre4 G A 17: 56,106,637 (GRCm39) C292Y probably damaging Het
Alk A G 17: 72,176,837 (GRCm39) F1489S probably damaging Het
Ampd2 A G 3: 107,983,818 (GRCm39) V573A possibly damaging Het
Aoc1 T C 6: 48,882,448 (GRCm39) F130S probably damaging Het
Bbs2 A T 8: 94,801,887 (GRCm39) I554N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cbfa2t3 T C 8: 123,374,517 (GRCm39) H76R probably benign Het
Cdc14a G T 3: 116,122,171 (GRCm39) N216K probably benign Het
Cep126 T C 9: 8,130,224 (GRCm39) Y69C probably damaging Het
Cep135 A T 5: 76,763,553 (GRCm39) R514S probably benign Het
Cfi A T 3: 129,662,191 (GRCm39) Y390F probably damaging Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Clptm1 A G 7: 19,369,599 (GRCm39) V437A possibly damaging Het
Coro7 T C 16: 4,450,118 (GRCm39) E577G probably benign Het
Crh G A 3: 19,748,528 (GRCm39) P38L probably benign Het
Ctif T A 18: 75,568,407 (GRCm39) D577V probably damaging Het
Deup1 T A 9: 15,511,047 (GRCm39) Q244L probably damaging Het
Dhx16 A G 17: 36,192,581 (GRCm39) E171G probably damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dync1i2 C T 2: 71,081,316 (GRCm39) L508F probably damaging Het
Dync2h1 T A 9: 7,116,642 (GRCm39) probably null Het
E2f4 C T 8: 106,027,140 (GRCm39) Q235* probably null Het
Eif2b3 A G 4: 116,916,002 (GRCm39) H203R probably damaging Het
Epha5 A T 5: 84,534,101 (GRCm39) W77R probably damaging Het
Gpx6 C T 13: 21,501,238 (GRCm39) P109S probably damaging Het
Gsdmc4 A T 15: 63,765,649 (GRCm39) V300E probably damaging Het
Gspt1 A C 16: 11,056,802 (GRCm39) S198A probably benign Het
Ift70a2 T C 2: 75,808,494 (GRCm39) N6S probably benign Het
Itpk1 C T 12: 102,641,707 (GRCm39) V39M probably damaging Het
Kremen2 G T 17: 23,961,811 (GRCm39) P232Q probably damaging Het
Lamtor4 C A 5: 138,257,320 (GRCm39) T74K probably benign Het
Mbtd1 T A 11: 93,822,665 (GRCm39) F492I probably benign Het
Mroh1 G T 15: 76,336,083 (GRCm39) V1486F probably damaging Het
Myg1 G A 15: 102,240,537 (GRCm39) V76M probably damaging Het
Myo16 G T 8: 10,322,766 (GRCm39) Q65H probably damaging Het
Ncapg A G 5: 45,838,790 (GRCm39) E487G probably damaging Het
Ncoa5 T C 2: 164,844,714 (GRCm39) E332G probably damaging Het
Nek6 T A 2: 38,459,643 (GRCm39) I162N possibly damaging Het
Nwd2 C A 5: 63,957,473 (GRCm39) R268S probably damaging Het
Or4c11 T C 2: 88,695,345 (GRCm39) V132A probably benign Het
Or9a7 T C 6: 40,521,272 (GRCm39) I214V probably benign Het
Palm3 T G 8: 84,754,776 (GRCm39) S141A probably benign Het
Pbrm1 T C 14: 30,789,536 (GRCm39) F728L probably damaging Het
Phf3 A G 1: 30,869,632 (GRCm39) V472A probably benign Het
Plekha5 T A 6: 140,514,576 (GRCm39) L35* probably null Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp6r2 G A 15: 89,152,785 (GRCm39) E309K possibly damaging Het
Ptpn6 T A 6: 124,704,499 (GRCm39) probably null Het
Rasgrf1 T C 9: 89,882,824 (GRCm39) V882A probably benign Het
Ryr3 T G 2: 112,480,483 (GRCm39) E4335D probably benign Het
Slc12a5 T A 2: 164,835,958 (GRCm39) I892N probably damaging Het
Slc22a2 G A 17: 12,831,318 (GRCm39) M369I probably benign Het
Sox10 A T 15: 79,040,641 (GRCm39) Y300N probably damaging Het
Speg T C 1: 75,352,318 (GRCm39) F79L probably benign Het
Sult1b1 T A 5: 87,665,311 (GRCm39) I208L probably benign Het
Syt9 A G 7: 107,105,737 (GRCm39) N460S probably benign Het
Tecpr1 T A 5: 144,149,410 (GRCm39) N339I possibly damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Ttn T C 2: 76,725,105 (GRCm39) probably benign Het
Upk3bl G T 5: 136,086,185 (GRCm39) R40S probably benign Het
Usp28 T C 9: 48,912,824 (GRCm39) I25T probably damaging Het
Vmn2r27 A G 6: 124,177,583 (GRCm39) Y474H probably damaging Het
Vps13a A T 19: 16,712,246 (GRCm39) probably null Het
Wdr36 A T 18: 32,982,135 (GRCm39) N371I possibly damaging Het
Wnt7b A G 15: 85,421,978 (GRCm39) F228S probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Zan T G 5: 137,406,659 (GRCm39) probably benign Het
Zfp760 A G 17: 21,942,559 (GRCm39) D578G possibly damaging Het
Zfyve19 T A 2: 119,041,266 (GRCm39) S61T probably benign Het
Zfyve9 T C 4: 108,575,866 (GRCm39) D405G probably damaging 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
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
R3971:Coro2b UTSW 9 62,336,522 (GRCm39) missense possibly damaging 0.55
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'- TTCATTCCAAGTCAGAGGCAAAGGG -3'
(R):5'- TGAATGGCTGGGAGGCATCAAC -3'

Sequencing Primer
(F):5'- GGGAACCAACTACATGTTACTTACAG -3'
(R):5'- GAAGAGCTACTCTCCAGCTCAG -3'
Posted On 2013-10-16