Incidental Mutation 'R5859:Chrdl2'
ID 455064
Institutional Source Beutler Lab
Gene Symbol Chrdl2
Ensembl Gene ENSMUSG00000030732
Gene Name chordin-like 2
Synonyms Chl2, 1810022C01Rik
MMRRC Submission 044071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R5859 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 99655611-99683935 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99670114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 79 (Y79C)
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: Y72C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732
AA Change: Y72C

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: Y79C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732
AA Change: Y79C

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
Meta Mutation Damage Score 0.1435 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency 93% (70/75)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,303,477 (GRCm39) V150E probably benign Het
Alg11 A G 8: 22,555,857 (GRCm39) K373E probably benign Het
Arl14ep C T 2: 106,799,398 (GRCm39) probably benign Het
Ascc2 G A 11: 4,608,284 (GRCm39) G227R probably benign Het
Ash1l C T 3: 88,976,300 (GRCm39) P2627S probably damaging Het
Btla T G 16: 45,059,402 (GRCm39) probably null Het
Btnl10 C T 11: 58,813,138 (GRCm39) P256S probably benign Het
Cep162 C T 9: 87,086,145 (GRCm39) A1060T probably damaging Het
Cfap54 T A 10: 92,852,386 (GRCm39) K907* probably null Het
Chpf A T 1: 75,452,072 (GRCm39) F461I probably damaging Het
Copb2 G A 9: 98,450,161 (GRCm39) C40Y probably benign Het
Cyfip1 T C 7: 55,574,929 (GRCm39) L1060P probably damaging Het
Drg1 G A 11: 3,209,273 (GRCm39) probably benign Het
Erich3 A G 3: 154,468,134 (GRCm39) D862G possibly damaging Het
Flii G T 11: 60,607,137 (GRCm39) Y946* probably null Het
Glt8d2 T C 10: 82,507,915 (GRCm39) M1V probably null Het
Gm21136 T A 7: 38,567,165 (GRCm39) noncoding transcript Het
Gramd1c T C 16: 43,812,454 (GRCm39) T393A possibly damaging Het
Gucy2d T A 7: 98,101,090 (GRCm39) I471N probably benign Het
Hps3 G A 3: 20,063,034 (GRCm39) T711M probably benign Het
Hs3st4 A T 7: 123,582,831 (GRCm39) D143V probably benign Het
Kif17 T A 4: 138,018,744 (GRCm39) M461K possibly damaging Het
Klhdc7a T A 4: 139,694,885 (GRCm39) S21C probably damaging Het
Klk15 G A 7: 43,587,800 (GRCm39) R76H probably benign Het
Lnpk G A 2: 74,399,372 (GRCm39) T57I possibly damaging Het
Ltbp2 A G 12: 84,840,837 (GRCm39) V999A possibly damaging Het
Ltbr T C 6: 125,289,771 (GRCm39) H141R probably damaging Het
Lvrn T C 18: 47,026,816 (GRCm39) F805L probably damaging Het
Ms4a13 A T 19: 11,161,280 (GRCm39) C86* probably null Het
Ncbp1 A G 4: 46,163,026 (GRCm39) N480S probably benign Het
Nelfcd T G 2: 174,268,856 (GRCm39) *592G probably null Het
Neurog2 T C 3: 127,427,664 (GRCm39) V96A probably benign Het
Nod1 A T 6: 54,907,162 (GRCm39) W902R probably benign Het
Or12d13 T C 17: 37,647,260 (GRCm39) I288V possibly damaging Het
Or4k15c T A 14: 50,321,484 (GRCm39) Y218F probably damaging Het
Or55b3 T C 7: 102,126,957 (GRCm39) Y40C possibly damaging Het
Or6d13 T C 6: 116,517,861 (GRCm39) L149P probably damaging Het
Pcdha11 A T 18: 37,140,336 (GRCm39) H655L probably damaging Het
Plpp7 A G 2: 31,985,996 (GRCm39) E58G probably benign Het
Psph A T 5: 129,867,685 (GRCm39) probably benign Het
Rab11fip1 A C 8: 27,644,748 (GRCm39) S346A probably damaging Het
Rreb1 C A 13: 38,131,384 (GRCm39) P1513T probably benign Het
Rreb1 C T 13: 38,131,385 (GRCm39) P1513L probably benign Het
Rsf1 C T 7: 97,334,766 (GRCm39) R1300C probably damaging Het
Scap A G 9: 110,203,115 (GRCm39) N263S probably benign Het
Sec24d A T 3: 123,072,961 (GRCm39) probably benign Het
Slain2 T C 5: 73,105,888 (GRCm39) probably benign Het
Slc6a18 G T 13: 73,816,278 (GRCm39) T367N probably benign Het
Slk T A 19: 47,597,481 (GRCm39) D96E probably benign Het
Spag5 G A 11: 78,204,360 (GRCm39) V514I probably benign Het
St8sia2 T C 7: 73,616,654 (GRCm39) D107G probably damaging Het
Tgfbr3 T A 5: 107,288,381 (GRCm39) I427F probably benign Het
Tlr2 T G 3: 83,743,810 (GRCm39) T758P possibly damaging Het
Tmem270 A G 5: 134,931,738 (GRCm39) V68A probably benign Het
Vmn2r106 T A 17: 20,505,583 (GRCm39) H37L possibly damaging Het
Vmn2r27 T G 6: 124,177,647 (GRCm39) R452S probably damaging Het
Wdr5 A G 2: 27,423,362 (GRCm39) Y252C probably damaging Het
Zswim9 C T 7: 12,995,371 (GRCm39) V262M probably 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCTAAATGAGATCCGCTGAG -3'
(R):5'- TATCTAACAGACAGGGCTGCTCC -3'

Sequencing Primer
(F):5'- ATGAGATCCGCTGAGTGGGC -3'
(R):5'- AGACAGGGCTGCTCCTCTTC -3'
Posted On 2017-02-10