Incidental Mutation 'R2993:2210011C24Rik'
ID477468
Institutional Source Beutler Lab
Gene Symbol 2210011C24Rik
Ensembl Gene ENSMUSG00000074217
Gene NameRIKEN cDNA 2210011C24 gene
Synonyms
MMRRC Submission 040528-MU
Accession Numbers
Genbank:AK008705; MGI:1917384

 

Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R2993 (G1)
Quality Score96
Status Not validated
Chromosome8
Chromosomal Location84010222-84012171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84011584 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 34 (L34P)
Ref Sequence ENSEMBL: ENSMUSP00000140135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056686] [ENSMUST00000185457] [ENSMUST00000188195] [ENSMUST00000190457] [ENSMUST00000191523]
Predicted Effect probably benign
Transcript: ENSMUST00000056686
SMART Domains Protein: ENSMUSP00000062086
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
Pfam:AKAP2_C 33 121 5.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117015
Predicted Effect probably damaging
Transcript: ENSMUST00000185457
AA Change: L34P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140135
Gene: ENSMUSG00000074217
AA Change: L34P

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 80 2.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188195
SMART Domains Protein: ENSMUSP00000140472
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
Pfam:AKAP2_C 23 107 1.1e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190457
AA Change: L34P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140089
Gene: ENSMUSG00000074217
AA Change: L34P

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 130 4e-18 PFAM
Pfam:AKAP2_C 123 204 6.3e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191523
AA Change: L34P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140360
Gene: ENSMUSG00000074217
AA Change: L34P

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 78 1.7e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (34/34)
Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,578,535 W67R probably damaging Het
2610528A11Rik T A 14: 37,107,445 H27L probably benign Het
4931408C20Rik A T 1: 26,685,828 D90E possibly damaging Het
Abca16 T C 7: 120,535,161 V1377A probably damaging Het
Adarb2 A C 13: 8,713,716 I550L probably benign Het
Afdn T C 17: 13,891,000 probably null Het
Ago1 G T 4: 126,440,046 probably benign Het
Atp4a G A 7: 30,720,225 R671Q probably benign Het
Cdc7 G A 5: 106,973,898 V226I probably benign Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cyp4a31 G A 4: 115,569,820 V206I probably benign Het
Ddx47 G T 6: 135,018,981 R120L probably damaging Het
Dnah7a G A 1: 53,503,554 L2486F probably damaging Het
Eif3d A G 15: 77,961,705 I372T possibly damaging Het
Eogt A T 6: 97,118,954 probably null Het
Epb42 G A 2: 121,029,044 probably benign Het
Fbxl2 T C 9: 113,989,416 E159G possibly damaging Het
Gabrb2 T C 11: 42,597,649 V314A probably damaging Het
Gtf2h3 T C 5: 124,583,934 F32L probably benign Het
Gzmk A G 13: 113,180,477 I56T probably damaging Het
Katnbl1 G T 2: 112,408,618 probably null Het
Klhdc4 G C 8: 121,806,581 S118* probably null Het
Klrb1-ps1 A T 6: 129,121,029 K73N probably benign Het
Lrp1 T C 10: 127,610,381 D98G probably damaging Het
Lrrfip1 C A 1: 91,105,234 D313E probably damaging Het
Mmp21 C T 7: 133,678,986 R85H probably damaging Het
Mrpl16 A G 19: 11,774,531 I218M possibly damaging Het
Mtmr4 T A 11: 87,604,997 V553D probably damaging Het
Rap1gap2 C A 11: 74,407,322 A491S possibly damaging Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Vmn1r224 T A 17: 20,419,210 S16R probably damaging Het
Vmn2r55 C T 7: 12,684,955 A13T probably damaging Het
Zer1 A G 2: 30,101,897 V637A probably damaging Het
Other mutations in 2210011C24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
E2594:2210011C24Rik UTSW 8 84010702 unclassified probably benign
R6918:2210011C24Rik UTSW 8 84011684 start codon destroyed probably benign 0.01
Predicted Primers
Posted On2017-05-15