Incidental Mutation 'IGL02478:Chrdl2'
ID 295077
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 # IGL02478
Quality Score
Status
Chromosome 7
Chromosomal Location 99655611-99683935 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 99670190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032977] [ENSMUST00000032977] [ENSMUST00000107084] [ENSMUST00000107084]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000032977
SMART Domains Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732

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 null
Transcript: ENSMUST00000032977
SMART Domains Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732

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 null
Transcript: ENSMUST00000107084
SMART Domains Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732

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
Predicted Effect probably null
Transcript: ENSMUST00000107084
SMART Domains Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732

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
Predicted Effect probably benign
Transcript: ENSMUST00000144808
SMART Domains Protein: ENSMUSP00000120760
Gene: ENSMUSG00000030732

DomainStartEndE-ValueType
Blast:VWC 2 34 2e-15 BLAST
low complexity region 67 79 N/A INTRINSIC
low complexity region 96 114 N/A INTRINSIC
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,856,018 (GRCm39) A42E probably damaging Het
Agmo T A 12: 37,451,985 (GRCm39) F247L probably damaging Het
Arap1 C A 7: 101,049,332 (GRCm39) probably null Het
Arid1a T C 4: 133,408,585 (GRCm39) D1974G unknown Het
Asxl3 C T 18: 22,656,070 (GRCm39) A1360V possibly damaging Het
Celsr1 T A 15: 85,825,337 (GRCm39) T1599S possibly damaging Het
Csmd3 T C 15: 47,701,794 (GRCm39) probably benign Het
Dis3l C T 9: 64,222,055 (GRCm39) E452K probably benign Het
Dnajc2 A T 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Eps8 G A 6: 137,499,840 (GRCm39) P213L probably benign Het
Erbb3 T A 10: 128,407,227 (GRCm39) R978* probably null Het
Exoc2 A T 13: 31,111,403 (GRCm39) C142S probably benign Het
Fam184b T C 5: 45,695,039 (GRCm39) E735G probably damaging Het
Fancm T C 12: 65,123,864 (GRCm39) V174A probably damaging Het
Fat4 T C 3: 38,942,364 (GRCm39) L419P probably damaging Het
Fsip2 G T 2: 82,814,736 (GRCm39) V3490L probably benign Het
Ftcd A T 10: 76,417,255 (GRCm39) R255* probably null Het
Galc T C 12: 98,179,391 (GRCm39) N506S possibly damaging Het
Gm20441 G T 10: 75,608,644 (GRCm39) A26E probably damaging Het
Gm21969 T G 4: 139,367,999 (GRCm39) probably null Het
Ifitm3 T A 7: 140,589,787 (GRCm39) M89L possibly damaging Het
Ift25 T A 4: 107,132,449 (GRCm39) S79T probably benign Het
Inmt T C 6: 55,150,355 (GRCm39) E94G probably damaging Het
Insrr G A 3: 87,716,719 (GRCm39) G649D probably benign Het
Ivd T C 2: 118,692,572 (GRCm39) L24P probably benign Het
Kcnc1 A G 7: 46,084,593 (GRCm39) N506D probably benign Het
Krt39 T A 11: 99,411,723 (GRCm39) D121V probably benign Het
Lcp1 A G 14: 75,461,536 (GRCm39) I510V probably benign Het
Mkx C T 18: 7,002,418 (GRCm39) V43M probably damaging Het
Mmp2 A G 8: 93,579,235 (GRCm39) N108S possibly damaging Het
Mob1b T C 5: 88,903,947 (GRCm39) probably benign Het
Morc3 A G 16: 93,661,844 (GRCm39) probably benign Het
Myh13 T G 11: 67,260,204 (GRCm39) S1881A probably benign Het
Nalcn T C 14: 123,558,717 (GRCm39) E843G probably benign Het
Ngef A G 1: 87,408,301 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,344 (GRCm39) I158N probably damaging Het
Osm A G 11: 4,189,507 (GRCm39) Y97C probably damaging Het
Pclo T A 5: 14,816,792 (GRCm39) L4556Q unknown Het
Pcyox1l T C 18: 61,830,780 (GRCm39) D364G probably benign Het
Plekha6 T A 1: 133,211,031 (GRCm39) V467E probably benign Het
Qrsl1 A T 10: 43,758,158 (GRCm39) S312T probably damaging Het
Ripk1 T A 13: 34,194,572 (GRCm39) L70Q probably damaging Het
Rnaseh1 A T 12: 28,705,662 (GRCm39) Y162F probably damaging Het
Ror2 T A 13: 53,275,703 (GRCm39) T195S probably damaging Het
Sh3bp2 T C 5: 34,709,006 (GRCm39) L33P probably damaging Het
Skil T A 3: 31,151,968 (GRCm39) C163* probably null Het
Slc25a37 A T 14: 69,486,883 (GRCm39) N133K probably benign Het
Slitrk3 A C 3: 72,958,046 (GRCm39) V242G probably damaging Het
Sra1 A G 18: 36,801,845 (GRCm39) S82P probably benign Het
Synj2 A G 17: 6,088,199 (GRCm39) N1417D probably benign Het
Tas2r122 A G 6: 132,688,578 (GRCm39) V105A possibly damaging Het
Tasor2 T C 13: 3,624,661 (GRCm39) E1763G probably benign Het
Ttc21b T C 2: 66,018,624 (GRCm39) N1261S probably benign Het
Vmn2r69 A G 7: 85,055,889 (GRCm39) S750P probably damaging Het
Wdr95 A G 5: 149,519,786 (GRCm39) T568A probably benign Het
Zfp319 T A 8: 96,055,721 (GRCm39) I161F possibly damaging 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
IGL01322: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
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