Incidental Mutation 'R2993:Misp3'
ID 477468
Institutional Source Beutler Lab
Gene Symbol Misp3
Ensembl Gene ENSMUSG00000074217
Gene Name MISP family member 3
Synonyms 2210011C24Rik
MMRRC Submission 040528-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # R2993 (G1)
Quality Score 96
Status Not validated
Chromosome 8
Chromosomal Location 84736857-84738349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84738213 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A0A087WQ89
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: 124,372,184 (GRCm39) W67R probably damaging Het
Abca16 T C 7: 120,134,384 (GRCm39) V1377A probably damaging Het
Adarb2 A C 13: 8,763,752 (GRCm39) I550L probably benign Het
Afdn T C 17: 14,111,262 (GRCm39) probably null Het
Ago1 G T 4: 126,333,839 (GRCm39) probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdc7 G A 5: 107,121,764 (GRCm39) V226I probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cyp4a31 G A 4: 115,427,017 (GRCm39) V206I probably benign Het
Ddx47 G T 6: 134,995,944 (GRCm39) R120L probably damaging Het
Dnah7a G A 1: 53,542,713 (GRCm39) L2486F probably damaging Het
Eif3d A G 15: 77,845,905 (GRCm39) I372T possibly damaging Het
Eogt A T 6: 97,095,915 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Fbxl2 T C 9: 113,818,484 (GRCm39) E159G possibly damaging Het
Gabrb2 T C 11: 42,488,476 (GRCm39) V314A probably damaging Het
Gpr15lg T A 14: 36,829,402 (GRCm39) H27L probably benign Het
Gtf2h3 T C 5: 124,721,997 (GRCm39) F32L probably benign Het
Gzmk A G 13: 113,317,011 (GRCm39) I56T probably damaging Het
Katnbl1 G T 2: 112,238,963 (GRCm39) probably null Het
Klhdc4 G C 8: 122,533,320 (GRCm39) S118* probably null Het
Klrb1-ps1 A T 6: 129,097,992 (GRCm39) K73N probably benign Het
Lrp1 T C 10: 127,446,250 (GRCm39) D98G probably damaging Het
Lrrfip1 C A 1: 91,032,956 (GRCm39) D313E probably damaging Het
Mmp21 C T 7: 133,280,715 (GRCm39) R85H probably damaging Het
Mrpl16 A G 19: 11,751,895 (GRCm39) I218M possibly damaging Het
Mtmr4 T A 11: 87,495,823 (GRCm39) V553D probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Spata31e2 A T 1: 26,724,909 (GRCm39) D90E possibly damaging Het
Vmn1r224 T A 17: 20,639,472 (GRCm39) S16R probably damaging Het
Vmn2r55 C T 7: 12,418,882 (GRCm39) A13T probably damaging Het
Zer1 A G 2: 29,991,909 (GRCm39) V637A probably damaging Het
Other mutations in Misp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
E2594:Misp3 UTSW 8 84,737,331 (GRCm39) unclassified probably benign
R6918:Misp3 UTSW 8 84,738,313 (GRCm39) start codon destroyed probably benign 0.01
R8369:Misp3 UTSW 8 84,737,627 (GRCm39) missense unknown
R9327:Misp3 UTSW 8 84,737,080 (GRCm39) missense unknown
Predicted Primers
Posted On 2017-05-15