Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03377:Chrdl2'

420537

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 #

IGL03377

Quality Score

Status

Chromosome

Chromosomal Location

99655611-99683935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99671259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 126 (A126T)

Ref Sequence

ENSEMBL: ENSMUSP00000032977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032977] [ENSMUST00000107084]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032977
AA Change: A126T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732
AA Change: A126T

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000107084
AA Change: A133T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732
AA Change: A133T

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,096,256 (GRCm39)	I489L	probably benign	Het
Acox3	T	C	5: 35,751,676 (GRCm39)	L237P	probably damaging	Het
Ahi1	T	G	10: 20,893,903 (GRCm39)	I878S	possibly damaging	Het
Alox15	T	A	11: 70,240,488 (GRCm39)	Y231F	probably damaging	Het
Asxl1	A	T	2: 153,238,700 (GRCm39)	K342M	probably damaging	Het
Atl2	T	C	17: 80,172,519 (GRCm39)	I150M	probably damaging	Het
Bag6	T	C	17: 35,363,958 (GRCm39)	Y822H	probably damaging	Het
Ccdc171	T	C	4: 83,581,754 (GRCm39)	Y628H	probably damaging	Het
Ceacam5	T	A	7: 17,449,056 (GRCm39)	Y141N	probably benign	Het
Ces1a	A	G	8: 93,766,116 (GRCm39)	V166A	probably damaging	Het
Cyp2d26	T	C	15: 82,674,755 (GRCm39)	E409G	possibly damaging	Het
Dicer1	T	C	12: 104,678,456 (GRCm39)	I621V	probably damaging	Het
Enpp1	T	A	10: 24,536,181 (GRCm39)		probably null	Het
Epha2	T	A	4: 141,049,723 (GRCm39)	S776R	probably benign	Het
Fam107b	A	T	2: 3,779,481 (GRCm39)	E52V	probably damaging	Het
Fam169a	A	G	13: 97,228,381 (GRCm39)	N18S	probably benign	Het
Fbxw21	A	T	9: 108,968,597 (GRCm39)	F460I	probably benign	Het
Fgfr2	A	T	7: 129,800,247 (GRCm39)	I329N	probably damaging	Het
Fndc7	T	C	3: 108,783,848 (GRCm39)	S254G	probably benign	Het
Glis1	T	G	4: 107,489,478 (GRCm39)	H688Q	probably damaging	Het
Grip1	A	G	10: 119,890,937 (GRCm39)	E898G	probably damaging	Het
Gtf2a1l	T	A	17: 89,019,021 (GRCm39)	D368E	probably benign	Het
Gucy1a1	T	A	3: 82,013,322 (GRCm39)	H440L	probably damaging	Het
H2-M10.5	A	T	17: 37,084,377 (GRCm39)	D113V	probably benign	Het
Hook2	G	T	8: 85,727,964 (GRCm39)	E554*	probably null	Het
Itpr2	A	C	6: 146,231,213 (GRCm39)	V1182G	probably damaging	Het
Itpr2	T	A	6: 146,231,256 (GRCm39)	T1135S	probably benign	Het
Kdm4c	T	C	4: 74,189,492 (GRCm39)	I69T	possibly damaging	Het
Klhl31	A	T	9: 77,558,345 (GRCm39)	K354*	probably null	Het
Krt222	T	A	11: 99,127,339 (GRCm39)	K159*	probably null	Het
Loxhd1	A	G	18: 77,529,369 (GRCm39)	E2004G	possibly damaging	Het
Man2a2	A	T	7: 80,008,800 (GRCm39)		probably null	Het
Med24	A	G	11: 98,595,962 (GRCm39)	F963L	possibly damaging	Het
Mphosph8	A	G	14: 56,930,943 (GRCm39)	E744G	probably damaging	Het
Mypn	A	G	10: 63,028,644 (GRCm39)	S140P	probably benign	Het
Npc1	A	G	18: 12,344,878 (GRCm39)	F331L	probably benign	Het
Obscn	C	A	11: 58,890,699 (GRCm39)	G1798W	probably damaging	Het
Or5d18	A	T	2: 87,864,589 (GRCm39)	V298D	probably damaging	Het
Patj	C	T	4: 98,353,341 (GRCm39)	P110L	probably damaging	Het
Pkhd1l1	T	G	15: 44,347,747 (GRCm39)		probably null	Het
Prdm5	A	G	6: 65,836,457 (GRCm39)	H256R	possibly damaging	Het
Ralgps1	A	G	2: 33,062,473 (GRCm39)	Y267H	probably damaging	Het
Rfpl4	T	G	7: 5,113,464 (GRCm39)	Y239S	probably damaging	Het
Rnpepl1	A	T	1: 92,846,953 (GRCm39)	M592L	probably benign	Het
Serpinc1	A	T	1: 160,821,012 (GRCm39)	H32L	probably damaging	Het
Skint5	T	A	4: 113,620,735 (GRCm39)	T660S	unknown	Het
Slc26a2	T	C	18: 61,331,658 (GRCm39)	N591S	probably damaging	Het
Slc9b2	C	T	3: 135,042,119 (GRCm39)	A466V	probably damaging	Het
Slco1a5	T	A	6: 142,180,492 (GRCm39)	T637S	probably benign	Het
Snx25	A	G	8: 46,533,338 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,259,594 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,817 (GRCm39)	M207V	possibly damaging	Het
Wdcp	T	G	12: 4,900,691 (GRCm39)	Y182*	probably null	Het
Zc3h13	A	G	14: 75,531,416 (GRCm39)	T105A	possibly damaging	Het
Zfp933	T	C	4: 147,913,168 (GRCm39)	K30R	possibly damaging	Het

Other mutations in Chrdl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02