Incidental Mutation 'R2193:Isoc2b'
ID 238264
Institutional Source Beutler Lab
Gene Symbol Isoc2b
Ensembl Gene ENSMUSG00000052605
Gene Name isochorismatase domain containing 2b
Synonyms 0610042E07Rik
MMRRC Submission 040195-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R2193 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4847958-4869178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4853823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 117 (H117R)
Ref Sequence ENSEMBL: ENSMUSP00000147085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064547] [ENSMUST00000208816]
AlphaFold Q9DCC7
Predicted Effect probably benign
Transcript: ENSMUST00000064547
AA Change: H117R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066859
Gene: ENSMUSG00000052605
AA Change: H117R

DomainStartEndE-ValueType
Pfam:Isochorismatase 16 163 2.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208173
Predicted Effect probably benign
Transcript: ENSMUST00000208816
AA Change: H117R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 T C 7: 43,902,993 (GRCm39) R289G probably benign Het
Bfar A G 16: 13,515,335 (GRCm39) N183D probably benign Het
Cdca3 A G 6: 124,808,409 (GRCm39) T69A probably damaging Het
Ces1b A T 8: 93,806,505 (GRCm39) C14S probably benign Het
Clcn3 T A 8: 61,382,221 (GRCm39) I456F possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcpp2 A C 17: 24,119,393 (GRCm39) D69A probably damaging Het
Dlgap2 T A 8: 14,793,431 (GRCm39) I475N possibly damaging Het
Dnah6 T A 6: 73,115,623 (GRCm39) M1592L probably damaging Het
Dscaml1 A G 9: 45,596,532 (GRCm39) Q792R probably benign Het
Eif2ak4 A G 2: 118,252,747 (GRCm39) I440V probably benign Het
Frrs1 T C 3: 116,671,994 (GRCm39) S31P probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Klf5 C T 14: 99,536,406 (GRCm39) probably benign Het
Ltn1 G A 16: 87,224,535 (GRCm39) S63F probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Oas1f A C 5: 120,989,648 (GRCm39) T196P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ocln T C 13: 100,676,412 (GRCm39) D27G probably damaging Het
Or2av9 A T 11: 58,380,732 (GRCm39) M283K probably damaging Het
Or2y17 A G 11: 49,231,770 (GRCm39) H137R possibly damaging Het
Rasgrf2 A C 13: 92,160,221 (GRCm39) probably null Het
Sars2 G T 7: 28,448,422 (GRCm39) V268L probably damaging Het
Sin3a T A 9: 57,024,761 (GRCm39) S1040R possibly damaging Het
Vps9d1 A T 8: 123,979,404 (GRCm39) Y39N probably damaging Het
Other mutations in Isoc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Isoc2b APN 7 4,853,763 (GRCm39) missense probably damaging 1.00
R2112:Isoc2b UTSW 7 4,852,474 (GRCm39) missense probably damaging 1.00
R2130:Isoc2b UTSW 7 4,854,438 (GRCm39) missense probably damaging 0.96
R4411:Isoc2b UTSW 7 4,852,433 (GRCm39) intron probably benign
R5355:Isoc2b UTSW 7 4,852,357 (GRCm39) intron probably benign
R5497:Isoc2b UTSW 7 4,853,782 (GRCm39) missense probably benign 0.02
R5831:Isoc2b UTSW 7 4,854,023 (GRCm39) missense probably null 0.38
R5907:Isoc2b UTSW 7 4,852,577 (GRCm39) splice site probably null
R6542:Isoc2b UTSW 7 4,854,454 (GRCm39) missense probably damaging 1.00
R6766:Isoc2b UTSW 7 4,854,061 (GRCm39) missense probably damaging 1.00
R6891:Isoc2b UTSW 7 4,854,487 (GRCm39) missense probably damaging 0.99
R7475:Isoc2b UTSW 7 4,854,084 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTTCAACACTGCTGCAATGG -3'
(R):5'- AGGGCTATCTAATCTTCCTGCC -3'

Sequencing Primer
(F):5'- GTTGCTTTGGTCTGTAGTCTATCCC -3'
(R):5'- GCTATCTAATCTTCCTGCCCTCCC -3'
Posted On 2014-10-02