Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03117:Chrdl2'

419490

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 #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

99655611-99683935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99676787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 203 (H203L)

Ref Sequence

ENSEMBL: ENSMUSP00000102699 (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: H196L

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732
AA Change: H196L

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

possibly damaging
Transcript: ENSMUST00000107084
AA Change: H203L

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732
AA Change: H203L

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

unknown
Transcript: ENSMUST00000144808
AA Change: H55L

SMART Domains

Protein: ENSMUSP00000120760
Gene: ENSMUSG00000030732
AA Change: H55L

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,189,909 (GRCm39)	L109P	probably damaging	Het
Caprin2	A	T	6: 148,763,964 (GRCm39)	S568T	possibly damaging	Het
Catip	A	G	1: 74,403,744 (GRCm39)	T154A	probably null	Het
Ccdc187	A	G	2: 26,177,980 (GRCm39)	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,324,559 (GRCm39)	Y39C	probably damaging	Het
Chrnb2	A	G	3: 89,670,552 (GRCm39)	V62A	probably damaging	Het
Cklf	T	A	8: 104,984,055 (GRCm39)	S73T	possibly damaging	Het
Clk1	A	G	1: 58,456,166 (GRCm39)		probably null	Het
Ctdp1	T	C	18: 80,492,716 (GRCm39)	D593G	probably damaging	Het
Ctsc	A	T	7: 87,958,988 (GRCm39)	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,825 (GRCm39)	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,696,140 (GRCm39)	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,327,117 (GRCm39)		probably benign	Het
Dnajb11	G	T	16: 22,687,888 (GRCm39)	R206L	probably benign	Het
Dsel	A	T	1: 111,786,908 (GRCm39)		probably benign	Het
Ehd2	T	C	7: 15,684,396 (GRCm39)	S468G	possibly damaging	Het
Ehmt2	T	A	17: 35,125,787 (GRCm39)	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,140,573 (GRCm39)	E299D	probably benign	Het
Eps8l1	T	C	7: 4,473,886 (GRCm39)	L231P	probably damaging	Het
Esd	A	G	14: 74,978,686 (GRCm39)	T83A	probably damaging	Het
Flt3	A	G	5: 147,293,020 (GRCm39)	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,158,339 (GRCm39)		probably benign	Het
Hpx	G	T	7: 105,249,278 (GRCm39)	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,380,320 (GRCm39)	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,338,240 (GRCm39)	V2503I	probably damaging	Het
Itprid1	A	G	6: 55,875,114 (GRCm39)	T355A	probably benign	Het
Matr3	G	T	18: 35,705,710 (GRCm39)	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,793,263 (GRCm39)	Y129*	probably null	Het
Myh2	T	C	11: 67,071,710 (GRCm39)	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,158,288 (GRCm39)	A233S	probably damaging	Het
Nipbl	A	C	15: 8,361,936 (GRCm39)	L1447W	probably damaging	Het
Paf1	T	A	7: 28,094,481 (GRCm39)	C31S	possibly damaging	Het
Parp4	A	C	14: 56,840,313 (GRCm39)	T573P	probably benign	Het
Phf12	A	T	11: 77,913,846 (GRCm39)		probably benign	Het
Pi4k2b	A	G	5: 52,905,765 (GRCm39)	E102G	probably benign	Het
Pou2f1	A	G	1: 165,762,382 (GRCm39)	C7R	probably benign	Het
Prpsap2	T	C	11: 61,631,815 (GRCm39)	R181G	probably benign	Het
Psd	A	G	19: 46,311,561 (GRCm39)		probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rab21	A	T	10: 115,151,097 (GRCm39)		probably null	Het
Relb	T	C	7: 19,346,582 (GRCm39)	D330G	probably damaging	Het
Rhoc	A	T	3: 104,700,236 (GRCm39)	T100S	probably benign	Het
Ryr1	G	T	7: 28,802,389 (GRCm39)	H744N	probably damaging	Het
Sardh	C	T	2: 27,129,458 (GRCm39)	G280D	probably damaging	Het
Scyl2	A	C	10: 89,493,729 (GRCm39)	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,362,970 (GRCm39)	F267S	probably damaging	Het
Slc44a5	T	A	3: 153,956,714 (GRCm39)	M322K	probably benign	Het
St8sia4	T	A	1: 95,519,508 (GRCm39)	N327Y	probably benign	Het
Tbl1xr1	T	A	3: 22,257,323 (GRCm39)	Y395*	probably null	Het
Unc13c	A	T	9: 73,441,307 (GRCm39)	S1897R	probably benign	Het
Vangl2	A	G	1: 171,840,415 (GRCm39)	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,337,501 (GRCm39)	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,507,508 (GRCm39)	I209V	probably benign	Het
Zfp809	A	G	9: 22,149,950 (GRCm39)	Y149C	probably 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
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

2016-08-02