Incidental Mutation 'R1294:Csta2'
ID 158031
Institutional Source Beutler Lab
Gene Symbol Csta2
Ensembl Gene ENSMUSG00000095620
Gene Name cystatin A family member 2
Synonyms 2010005H15Rik
MMRRC Submission 039360-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R1294 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 36041932-36077813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36077618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 58 (D58E)
Ref Sequence ENSEMBL: ENSMUSP00000139876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063539] [ENSMUST00000187183] [ENSMUST00000187742]
AlphaFold Q9D8D6
Predicted Effect probably damaging
Transcript: ENSMUST00000063539
AA Change: D58E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067712
Gene: ENSMUSG00000095620
AA Change: D58E

DomainStartEndE-ValueType
CY 1 97 7.85e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179338
Predicted Effect probably damaging
Transcript: ENSMUST00000187183
AA Change: D58E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140745
Gene: ENSMUSG00000095620
AA Change: D58E

DomainStartEndE-ValueType
CY 1 97 7.85e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187742
AA Change: D58E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139876
Gene: ENSMUSG00000095620
AA Change: D58E

DomainStartEndE-ValueType
CY 1 97 7.85e-18 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C2cd2 A G 16: 97,723,469 (GRCm39) L16P probably damaging Het
Cfap57 A T 4: 118,463,731 (GRCm39) probably null Het
Cnn2 A G 10: 79,829,359 (GRCm39) D163G probably damaging Het
Csmd1 T C 8: 16,748,052 (GRCm39) D233G probably damaging Het
Dhh T C 15: 98,792,264 (GRCm39) Q248R probably benign Het
Elavl2 G A 4: 91,199,826 (GRCm39) A19V probably benign Het
Fxr1 T A 3: 34,101,201 (GRCm39) M169K probably benign Het
Ghr A G 15: 3,418,128 (GRCm39) probably null Het
Gm5334 T C 7: 68,268,862 (GRCm39) S94P probably damaging Het
Klk1b3 C A 7: 43,849,720 (GRCm39) S35Y probably damaging Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lap3 T C 5: 45,655,863 (GRCm39) V156A probably benign Het
Pcbp3 A G 10: 76,599,155 (GRCm39) I327T probably damaging Het
Plaat5 A G 19: 7,592,015 (GRCm39) probably benign Het
Polr1a A T 6: 71,889,886 (GRCm39) N35I probably damaging Het
Rab3c T C 13: 110,397,099 (GRCm39) T56A possibly damaging Het
Rapsn A T 2: 90,867,120 (GRCm39) K141* probably null Het
Rxrg G T 1: 167,441,470 (GRCm39) A83S probably benign Het
Serpinc1 T C 1: 160,817,211 (GRCm39) S102P probably damaging Het
Setd2 A G 9: 110,378,575 (GRCm39) N797D probably benign Het
Skic2 T C 17: 35,060,040 (GRCm39) probably null Het
Slc24a1 A T 9: 64,843,295 (GRCm39) V619E unknown Het
Slc25a20 A G 9: 108,554,838 (GRCm39) M128V probably benign Het
Spam1 A G 6: 24,796,906 (GRCm39) I286V probably benign Het
Tbc1d22a T A 15: 86,381,027 (GRCm39) F479Y probably damaging Het
Tdrd1 A G 19: 56,837,208 (GRCm39) probably null Het
Trim58 T A 11: 58,533,953 (GRCm39) I169N probably benign Het
Vmn1r25 A G 6: 57,955,464 (GRCm39) I275T possibly damaging Het
Zfp27 T A 7: 29,595,737 (GRCm39) Y76F possibly damaging Het
Other mutations in Csta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Csta2 APN 16 36,073,459 (GRCm39) missense probably damaging 1.00
R0520:Csta2 UTSW 16 36,073,461 (GRCm39) missense probably benign 0.03
R4899:Csta2 UTSW 16 36,077,731 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- GGTTGATGGACGATCAGTTCACCG -3'
(R):5'- GCCCTTGCCAAGAATGACATGC -3'

Sequencing Primer
(F):5'- ctttctctcttccttcctttcttc -3'
(R):5'- gccaagaatgacatgcaaatttatg -3'
Posted On 2014-02-18