Incidental Mutation 'R6500:Chac2'
ID 519683
Institutional Source Beutler Lab
Gene Symbol Chac2
Ensembl Gene ENSMUSG00000020309
Gene Name ChaC, cation transport regulator 2
Synonyms 2510006C20Rik
MMRRC Submission 044632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R6500 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 30926707-30936350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30927625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 86 (D86G)
Ref Sequence ENSEMBL: ENSMUSP00000020553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020551] [ENSMUST00000020553] [ENSMUST00000101394] [ENSMUST00000117883] [ENSMUST00000137306] [ENSMUST00000203878]
AlphaFold Q9CQG1
Predicted Effect probably benign
Transcript: ENSMUST00000020551
SMART Domains Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
ANK 9 38 5.29e0 SMART
ANK 42 71 1.23e0 SMART
ANK 78 107 7.3e-3 SMART
ANK 111 140 2.66e-5 SMART
ANK 145 174 2.73e-2 SMART
ANK 178 207 2.81e-4 SMART
ANK 211 240 1.88e-5 SMART
ANK 246 276 1.6e2 SMART
ANK 279 308 1.9e-1 SMART
ANK 315 346 1.17e2 SMART
SOCS_box 460 502 2.1e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000020553
AA Change: D86G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020553
Gene: ENSMUSG00000020309
AA Change: D86G

DomainStartEndE-ValueType
Pfam:ChaC 1 162 2.2e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101394
AA Change: D98G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000098942
Gene: ENSMUSG00000020309
AA Change: D98G

DomainStartEndE-ValueType
Pfam:ChaC 1 174 5.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117883
SMART Domains Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
ANK 9 38 5.29e0 SMART
ANK 42 71 1.23e0 SMART
ANK 78 107 7.3e-3 SMART
ANK 111 140 2.66e-5 SMART
ANK 145 174 2.73e-2 SMART
ANK 178 207 2.81e-4 SMART
ANK 211 240 1.88e-5 SMART
ANK 246 276 1.6e2 SMART
ANK 279 308 1.9e-1 SMART
ANK 315 346 1.17e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137306
SMART Domains Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
ANK 9 38 5.29e0 SMART
ANK 42 71 4.3e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148163
Predicted Effect probably benign
Transcript: ENSMUST00000203878
SMART Domains Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
ANK 48 77 3.5e-2 SMART
ANK 81 110 8e-3 SMART
ANK 117 146 4.8e-5 SMART
ANK 150 179 1.7e-7 SMART
ANK 184 213 1.8e-4 SMART
ANK 217 246 1.8e-6 SMART
ANK 250 279 1.2e-7 SMART
ANK 285 315 1.1e0 SMART
ANK 318 347 1.2e-3 SMART
ANK 354 385 7.7e-1 SMART
SOCS 493 542 2.8e-4 SMART
SOCS_box 499 541 1.6e-17 SMART
Meta Mutation Damage Score 0.1030 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,606,380 (GRCm39) F461L probably benign Het
Adamtsl3 C A 7: 82,227,818 (GRCm39) H1334Q probably benign Het
Adgrf1 A G 17: 43,621,263 (GRCm39) N500S probably damaging Het
Afdn A G 17: 14,042,634 (GRCm39) D335G possibly damaging Het
Arhgap19 G A 19: 41,775,077 (GRCm39) T178M probably damaging Het
Clhc1 T C 11: 29,510,542 (GRCm39) S209P possibly damaging Het
Col1a2 G A 6: 4,515,517 (GRCm39) G127S unknown Het
Coro2b A G 9: 62,396,606 (GRCm39) F51L probably benign Het
Cux2 A G 5: 122,002,789 (GRCm39) S1139P probably benign Het
Cyth3 A T 5: 143,693,595 (GRCm39) I379F probably damaging Het
Dock2 A T 11: 34,312,822 (GRCm39) L240H possibly damaging Het
Ercc6 A G 14: 32,248,780 (GRCm39) K444E probably damaging Het
Fam3b A G 16: 97,302,101 (GRCm39) L52P possibly damaging Het
Fat4 T G 3: 39,035,418 (GRCm39) Y3023* probably null Het
Gad1 A T 2: 70,423,780 (GRCm39) N396Y probably damaging Het
Gbp2b A G 3: 142,317,252 (GRCm39) E536G probably benign Het
Gm11564 G A 11: 99,706,061 (GRCm39) T123I unknown Het
Herc2 G T 7: 55,796,393 (GRCm39) E1922* probably null Het
Hrh4 G T 18: 13,155,525 (GRCm39) V355F probably damaging Het
Isyna1 A G 8: 71,047,339 (GRCm39) I21V probably damaging Het
Jak1 T C 4: 101,039,130 (GRCm39) D165G probably benign Het
Klhl38 C A 15: 58,185,809 (GRCm39) G307* probably null Het
Krt77 T C 15: 101,772,772 (GRCm39) N269S probably damaging Het
Lrp4 T A 2: 91,322,765 (GRCm39) I1118N possibly damaging Het
Ly6i T C 15: 74,853,833 (GRCm39) Y30C probably damaging Het
Magi2 A G 5: 20,807,345 (GRCm39) E620G possibly damaging Het
Mbl2 A G 19: 30,216,839 (GRCm39) D217G possibly damaging Het
Mogat2 T A 7: 98,871,553 (GRCm39) I253F probably benign Het
Mpped2 T C 2: 106,691,925 (GRCm39) L210P probably damaging Het
Nav3 C A 10: 109,600,617 (GRCm39) A1337S probably damaging Het
Ncaph2 T A 15: 89,248,407 (GRCm39) V206E probably benign Het
Nlgn1 T C 3: 25,488,094 (GRCm39) E747G possibly damaging Het
Nlrc3 C T 16: 3,770,308 (GRCm39) G237D possibly damaging Het
Nsun7 A G 5: 66,452,827 (GRCm39) D514G probably benign Het
Or10al5 C G 17: 38,063,577 (GRCm39) D277E probably damaging Het
Pals2 A G 6: 50,175,146 (GRCm39) K500E possibly damaging Het
Pcnx2 C A 8: 126,480,224 (GRCm39) V2028F probably damaging Het
Pdx1 G T 5: 147,207,440 (GRCm39) W131L probably damaging Het
Pkdrej C T 15: 85,703,747 (GRCm39) V730I probably damaging Het
Plcg1 T A 2: 160,596,487 (GRCm39) Y669N probably damaging Het
Plpp1 G T 13: 113,003,454 (GRCm39) W226L probably damaging Het
Sfxn1 G A 13: 54,242,918 (GRCm39) V59I probably benign Het
Shank1 T C 7: 43,976,645 (GRCm39) I581T unknown Het
Slc35f6 A C 5: 30,814,164 (GRCm39) K150N possibly damaging Het
Slc5a7 A T 17: 54,591,231 (GRCm39) S234T probably benign Het
Smg6 C T 11: 74,821,331 (GRCm39) T534I possibly damaging Het
Ush2a C T 1: 188,573,724 (GRCm39) T3649I probably benign Het
Vmn1r158 T C 7: 22,490,078 (GRCm39) T44A possibly damaging Het
Vmn1r217 A T 13: 23,298,073 (GRCm39) Y276* probably null Het
Vmn2r100 T A 17: 19,742,355 (GRCm39) I243N probably damaging Het
Vwde T C 6: 13,208,404 (GRCm39) probably null Het
Washc4 C A 10: 83,394,687 (GRCm39) P306T probably damaging Het
Wdhd1 C T 14: 47,488,217 (GRCm39) probably null Het
Xpo6 T C 7: 125,770,262 (GRCm39) probably benign Het
Other mutations in Chac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00956:Chac2 APN 11 30,936,225 (GRCm39) missense probably damaging 1.00
IGL02486:Chac2 APN 11 30,927,625 (GRCm39) missense probably damaging 1.00
IGL03386:Chac2 APN 11 30,927,720 (GRCm39) missense probably benign 0.30
IGL02837:Chac2 UTSW 11 30,927,496 (GRCm39) missense probably damaging 1.00
R1820:Chac2 UTSW 11 30,927,496 (GRCm39) missense probably damaging 1.00
R1832:Chac2 UTSW 11 30,927,568 (GRCm39) missense probably benign 0.00
R2319:Chac2 UTSW 11 30,936,252 (GRCm39) intron probably benign
R6084:Chac2 UTSW 11 30,936,159 (GRCm39) missense probably damaging 1.00
R6348:Chac2 UTSW 11 30,927,406 (GRCm39) missense probably damaging 0.98
R8340:Chac2 UTSW 11 30,927,511 (GRCm39) missense probably damaging 1.00
R9014:Chac2 UTSW 11 30,936,158 (GRCm39) missense probably damaging 1.00
R9707:Chac2 UTSW 11 30,929,572 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTGGTACAAGTTTCCTAACAGAATC -3'
(R):5'- CTACCACTTTGAGGCACATTAAAAC -3'

Sequencing Primer
(F):5'- CAAGTTTCCTAACAGAATCTGCAAG -3'
(R):5'- AATTATCTTCACCTACTTTGATAGCC -3'
Posted On 2018-06-06