Incidental Mutation 'IGL01322:Chrdl2'
ID 278281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrdl2
Ensembl Gene ENSMUSG00000030732
Gene Name chordin-like 2
Synonyms Chl2, 1810022C01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # IGL01322
Quality Score
Status
Chromosome 7
Chromosomal Location 99655611-99683935 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99666248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 56 (Y56C)
Ref Sequence ENSEMBL: ENSMUSP00000102699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032977] [ENSMUST00000107084]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032977
AA Change: Y49C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732
AA Change: Y49C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWC 33 95 1.13e-3 SMART
VWC 111 174 1.58e-1 SMART
low complexity region 207 219 N/A INTRINSIC
VWC 248 310 3.09e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107084
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732
AA Change: Y56C

DomainStartEndE-ValueType
VWC 40 102 1.13e-3 SMART
VWC 118 181 1.58e-1 SMART
low complexity region 214 226 N/A INTRINSIC
VWC 255 317 3.09e-10 SMART
Coding Region Coverage
Validation Efficiency
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 chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Chrdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Chrdl2 APN 7 99,683,848 (GRCm39) missense probably damaging 0.96
IGL00965:Chrdl2 APN 7 99,655,860 (GRCm39) splice site probably null
IGL01320:Chrdl2 APN 7 99,666,248 (GRCm39) missense probably damaging 1.00
IGL01977:Chrdl2 APN 7 99,671,263 (GRCm39) missense probably benign 0.33
IGL02170:Chrdl2 APN 7 99,683,821 (GRCm39) missense possibly damaging 0.92
IGL02478:Chrdl2 APN 7 99,670,190 (GRCm39) critical splice donor site probably null
IGL02745:Chrdl2 APN 7 99,670,170 (GRCm39) missense probably damaging 1.00
IGL03117:Chrdl2 APN 7 99,676,787 (GRCm39) missense possibly damaging 0.83
IGL03377:Chrdl2 APN 7 99,671,259 (GRCm39) missense probably benign 0.03
Measley UTSW 7 99,659,328 (GRCm39) critical splice donor site probably null
R1453:Chrdl2 UTSW 7 99,666,197 (GRCm39) missense possibly damaging 0.64
R1900:Chrdl2 UTSW 7 99,682,871 (GRCm39) missense possibly damaging 0.75
R2092:Chrdl2 UTSW 7 99,670,184 (GRCm39) nonsense probably null
R3421:Chrdl2 UTSW 7 99,673,075 (GRCm39) missense probably damaging 1.00
R3949:Chrdl2 UTSW 7 99,678,412 (GRCm39) missense possibly damaging 0.89
R4305:Chrdl2 UTSW 7 99,671,229 (GRCm39) missense probably damaging 1.00
R4306:Chrdl2 UTSW 7 99,671,229 (GRCm39) missense probably damaging 1.00
R4776:Chrdl2 UTSW 7 99,655,748 (GRCm39) unclassified probably benign
R5208:Chrdl2 UTSW 7 99,673,129 (GRCm39) missense probably damaging 0.96
R5327:Chrdl2 UTSW 7 99,677,948 (GRCm39) missense probably damaging 1.00
R5859:Chrdl2 UTSW 7 99,670,114 (GRCm39) missense probably damaging 1.00
R5928:Chrdl2 UTSW 7 99,659,200 (GRCm39) start gained probably benign
R6706:Chrdl2 UTSW 7 99,659,328 (GRCm39) critical splice donor site probably null
R7027:Chrdl2 UTSW 7 99,671,240 (GRCm39) missense probably damaging 1.00
R7039:Chrdl2 UTSW 7 99,677,879 (GRCm39) missense probably damaging 1.00
R7357:Chrdl2 UTSW 7 99,678,414 (GRCm39) missense probably benign 0.00
R7468:Chrdl2 UTSW 7 99,659,332 (GRCm39) splice site probably null
R7840:Chrdl2 UTSW 7 99,682,863 (GRCm39) missense probably damaging 0.99
R7870:Chrdl2 UTSW 7 99,659,249 (GRCm39) missense unknown
R7887:Chrdl2 UTSW 7 99,678,457 (GRCm39) missense possibly damaging 0.89
R8394:Chrdl2 UTSW 7 99,666,292 (GRCm39) missense possibly damaging 0.95
R8436:Chrdl2 UTSW 7 99,676,940 (GRCm39) critical splice donor site probably null
R8958:Chrdl2 UTSW 7 99,670,129 (GRCm39) missense probably damaging 1.00
R9242:Chrdl2 UTSW 7 99,655,743 (GRCm39) unclassified probably benign
Posted On 2015-04-16