Incidental Mutation 'R5066:Chic2'
ID 388321
Institutional Source Beutler Lab
Gene Symbol Chic2
Ensembl Gene ENSMUSG00000029229
Gene Name cysteine-rich hydrophobic domain 2
Synonyms 4930502K01Rik, BTL, 1700081B18Rik
MMRRC Submission 042656-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.277) question?
Stock # R5066 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 75165665-75205302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75187817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000074903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075452]
AlphaFold Q9D9G3
Predicted Effect possibly damaging
Transcript: ENSMUST00000075452
AA Change: V81A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074903
Gene: ENSMUSG00000029229
AA Change: V81A

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
Pfam:Erf4 39 141 7.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202336
Meta Mutation Damage Score 0.1001 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A T 11: 70,507,417 (GRCm39) Y154F probably benign Het
Abca5 A T 11: 110,200,176 (GRCm39) probably benign Het
Agtpbp1 T A 13: 59,622,364 (GRCm39) D11V probably damaging Het
Aldh1a2 G A 9: 71,188,982 (GRCm39) A299T possibly damaging Het
Apc T A 18: 34,449,158 (GRCm39) V1984D probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Atp13a2 G A 4: 140,732,449 (GRCm39) V905M probably damaging Het
Atp1a1 C T 3: 101,489,420 (GRCm39) G731R probably damaging Het
Atrn T C 2: 130,836,113 (GRCm39) V1131A possibly damaging Het
Bcl2l13 T A 6: 120,863,982 (GRCm39) V312E possibly damaging Het
Drg1 A T 11: 3,209,353 (GRCm39) I122N possibly damaging Het
Efcab3 A G 11: 104,611,490 (GRCm39) D444G probably benign Het
Flt4 A G 11: 49,524,990 (GRCm39) N612S possibly damaging Het
Hadhb T C 5: 30,369,094 (GRCm39) probably benign Het
Heg1 G T 16: 33,559,041 (GRCm39) R856S probably benign Het
Ice2 A C 9: 69,315,573 (GRCm39) N143T probably benign Het
Igkv8-21 G A 6: 70,292,427 (GRCm39) Q4* probably null Het
Lrfn2 T C 17: 49,403,448 (GRCm39) S524P probably damaging Het
Mndal C A 1: 173,703,229 (GRCm39) A59S probably damaging Het
Mpp7 T C 18: 7,513,002 (GRCm39) E33G possibly damaging Het
Msantd5l A G 11: 51,145,251 (GRCm39) F112S probably damaging Het
Nedd4 T A 9: 72,617,801 (GRCm39) D187E probably damaging Het
Nfx1 A G 4: 40,991,868 (GRCm39) I519V probably benign Het
Or10p22 G A 10: 128,826,660 (GRCm39) R293Q probably damaging Het
Or6c204 T C 10: 129,022,433 (GRCm39) I286V possibly damaging Het
Padi1 T C 4: 140,556,748 (GRCm39) N153S probably damaging Het
Parp10 A G 15: 76,125,146 (GRCm39) probably benign Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Slc2a7 T A 4: 150,244,573 (GRCm39) M347K probably damaging Het
Slc45a2 C A 15: 11,012,693 (GRCm39) T232K probably benign Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Spata13 T C 14: 60,987,538 (GRCm39) Y899H possibly damaging Het
Sult1c2 T A 17: 54,281,026 (GRCm39) I26F probably damaging Het
Sybu A G 15: 44,541,040 (GRCm39) C341R probably damaging Het
Syk T A 13: 52,796,018 (GRCm39) S538T possibly damaging Het
Syne2 A G 12: 76,013,325 (GRCm39) T2840A probably benign Het
Thsd4 A G 9: 59,883,615 (GRCm39) C924R probably damaging Het
Tle1 A G 4: 72,076,504 (GRCm39) S175P probably benign Het
Tmbim4 C T 10: 120,053,537 (GRCm39) T112M probably benign Het
Tmprss11a A G 5: 86,567,859 (GRCm39) probably null Het
Tnc C A 4: 63,893,466 (GRCm39) D1698Y probably damaging Het
Ypel1 A G 16: 16,927,539 (GRCm39) Y18H probably benign Het
Other mutations in Chic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01648:Chic2 APN 5 75,187,860 (GRCm39) missense probably damaging 1.00
IGL01757:Chic2 APN 5 75,167,428 (GRCm39) splice site probably benign
IGL02327:Chic2 APN 5 75,187,741 (GRCm39) nonsense probably null
IGL03201:Chic2 APN 5 75,171,954 (GRCm39) splice site probably benign
R1872:Chic2 UTSW 5 75,172,140 (GRCm39) missense possibly damaging 0.85
R4923:Chic2 UTSW 5 75,171,872 (GRCm39) intron probably benign
R4995:Chic2 UTSW 5 75,204,865 (GRCm39) missense probably damaging 0.96
R6494:Chic2 UTSW 5 75,204,943 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATAGCATTCAGAACAGTGTGGTTC -3'
(R):5'- GGAAAAGTGAGTGTCTCTCTTATTG -3'

Sequencing Primer
(F):5'- CAACTTACTCTTTTACTGAGGC -3'
(R):5'- GTCACTCAGCATCTCAGT -3'
Posted On 2016-06-06