Incidental Mutation 'R1832:Chac2'
ID 204880
Institutional Source Beutler Lab
Gene Symbol Chac2
Ensembl Gene ENSMUSG00000020309
Gene Name ChaC, cation transport regulator 2
Synonyms 2510006C20Rik
MMRRC Submission 039859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R1832 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 30926707-30936350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30927568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 117 (N117S)
Ref Sequence ENSEMBL: ENSMUSP00000098942 (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 benign
Transcript: ENSMUST00000020553
AA Change: N105S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020553
Gene: ENSMUSG00000020309
AA Change: N105S

DomainStartEndE-ValueType
Pfam:ChaC 1 162 2.2e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101394
AA Change: N117S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000098942
Gene: ENSMUSG00000020309
AA Change: N117S

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 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.7%
Validation Efficiency 100% (82/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
Abca8a A T 11: 109,962,277 (GRCm39) N525K probably damaging Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adamts20 A T 15: 94,184,225 (GRCm39) M1526K probably benign Het
Ankdd1a A T 9: 65,411,771 (GRCm39) probably null Het
Ankrd1 C T 19: 36,092,378 (GRCm39) C283Y possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Bhlhe22 G A 3: 18,109,139 (GRCm39) C63Y probably damaging Het
Bmp8a A T 4: 123,218,885 (GRCm39) probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Ccdc88b G A 19: 6,830,900 (GRCm39) Q681* probably null Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Cimap3 C T 3: 105,921,912 (GRCm39) E4K possibly damaging Het
Cldn8 T A 16: 88,359,746 (GRCm39) I60F probably benign Het
Col16a1 G A 4: 129,970,850 (GRCm39) probably null Het
Col4a1 A G 8: 11,264,644 (GRCm39) probably benign Het
Cyp2a4 G T 7: 26,011,635 (GRCm39) E285D probably damaging Het
Cyp4a31 G A 4: 115,426,928 (GRCm39) G176D probably benign Het
Dmxl2 A C 9: 54,368,233 (GRCm39) Y246D probably damaging Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Dync2i1 T A 12: 116,171,363 (GRCm39) S958C probably damaging Het
Eif3h T C 15: 51,728,832 (GRCm39) T8A possibly damaging Het
Fbh1 G T 2: 11,772,211 (GRCm39) L157I probably benign Het
Fbxo40 C A 16: 36,789,218 (GRCm39) G631* probably null Het
Gabrb1 T A 5: 72,279,281 (GRCm39) probably null Het
Galc A G 12: 98,200,499 (GRCm39) probably null Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Igkv13-54-1 A T 6: 69,594,277 (GRCm39) M31L probably benign Het
Lamc2 C T 1: 153,041,933 (GRCm39) R67Q possibly damaging Het
Lcn10 A G 2: 25,575,151 (GRCm39) D173G probably damaging Het
Llgl2 G T 11: 115,741,926 (GRCm39) R656L probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ly6d T C 15: 74,634,615 (GRCm39) K46E probably damaging Het
Map3k5 A G 10: 19,975,306 (GRCm39) N88D probably damaging Het
Mertk A T 2: 128,604,132 (GRCm39) E422V probably benign Het
Mixl1 A G 1: 180,522,296 (GRCm39) V195A probably benign Het
Nmnat3 T C 9: 98,281,521 (GRCm39) V41A probably damaging Het
Or1r1 A T 11: 73,875,319 (GRCm39) N38K probably damaging Het
Or2a7 A G 6: 43,151,834 (GRCm39) R305G probably benign Het
Or7g34 A G 9: 19,478,492 (GRCm39) Y63H possibly damaging Het
Pappa2 T A 1: 158,684,886 (GRCm39) E751V probably damaging Het
Pcsk2 A G 2: 143,635,189 (GRCm39) S355G probably damaging Het
Pdzd2 A G 15: 12,390,134 (GRCm39) V821A probably damaging Het
Plxna4 A C 6: 32,174,761 (GRCm39) D1109E probably benign Het
Ppard A G 17: 28,516,084 (GRCm39) M103V probably benign Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Ralgapa1 T C 12: 55,804,752 (GRCm39) T515A probably benign Het
Rin2 A G 2: 145,703,091 (GRCm39) I596V possibly damaging Het
Rnls A G 19: 33,145,895 (GRCm39) S75P possibly damaging Het
Rsph10b A T 5: 143,903,997 (GRCm39) Y236F possibly damaging Het
Runx1t1 C T 4: 13,835,628 (GRCm39) probably benign Het
Sardh A G 2: 27,125,581 (GRCm39) V311A possibly damaging Het
Sbno2 G T 10: 79,896,439 (GRCm39) Y889* probably null Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4g T A 19: 44,987,456 (GRCm39) V534E probably benign Het
Shoc1 T G 4: 59,066,441 (GRCm39) I768L probably benign Het
Slc10a1 G A 12: 81,000,446 (GRCm39) S351F probably benign Het
Slc19a3 A T 1: 83,000,468 (GRCm39) V183E probably damaging Het
Slc25a12 A G 2: 71,164,054 (GRCm39) Y74H possibly damaging Het
Slc6a19 T A 13: 73,841,069 (GRCm39) I114L probably benign Het
Smpd2 A T 10: 41,364,232 (GRCm39) C189S probably benign Het
Spon1 T A 7: 113,616,018 (GRCm39) V295D probably benign Het
Tet3 A G 6: 83,380,627 (GRCm39) S514P probably benign Het
Tnk1 T C 11: 69,747,754 (GRCm39) I49M probably damaging Het
Trim80 A G 11: 115,337,619 (GRCm39) T431A probably benign Het
Vgf A T 5: 137,060,153 (GRCm39) Q105L possibly damaging Het
Vmn1r37 G T 6: 66,708,780 (GRCm39) L135F probably benign Het
Vps37d C T 5: 135,102,594 (GRCm39) A128T possibly damaging Het
Wwp1 T C 4: 19,650,197 (GRCm39) D323G probably benign Het
Zfp456 T A 13: 67,515,482 (GRCm39) I75L probably benign Het
Zfp990 A G 4: 145,264,780 (GRCm39) I593V possibly damaging 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
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
R6500:Chac2 UTSW 11 30,927,625 (GRCm39) missense probably damaging 1.00
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'- TGGTGACTCTGTATGCAAATCAG -3'
(R):5'- TTCAACAGGGCAGTGTATGGG -3'

Sequencing Primer
(F):5'- ATCAGTTTCTATTTTCCTTCTAAGCG -3'
(R):5'- GGGTGTTGCTTACAAACTACCAG -3'
Posted On 2014-06-23