Mutagenetix > Incidental Mutation

Incidental Mutation 'R1453:Chrdl2'

161604

Institutional Source

Beutler Lab

Gene Symbol

Chrdl2

Ensembl Gene

ENSMUSG00000030732

Gene Name

chordin-like 2

Synonyms

Chl2, 1810022C01Rik

MMRRC Submission

039508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R1453 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

99655611-99683935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99666197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

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: V32A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732
AA Change: V32A

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: V39A

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732
AA Change: V39A

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

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
Abca4	A	G	3: 121,862,763 (GRCm39)	I240M	probably benign	Het
Abcd3	A	T	3: 121,558,710 (GRCm39)	D595E	probably damaging	Het
Akap9	A	G	5: 4,025,614 (GRCm39)		probably null	Het
Arpc1b	A	G	5: 145,062,555 (GRCm39)	D223G	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,866 (GRCm39)	T104S	probably benign	Het
BC005537	T	C	13: 24,989,969 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,587,903 (GRCm39)	D477G	possibly damaging	Het
Clmp	C	G	9: 40,693,737 (GRCm39)	S318W	probably damaging	Het
Cmas	T	C	6: 142,717,853 (GRCm39)	S323P	probably damaging	Het
Cnksr3	T	C	10: 7,079,132 (GRCm39)	T80A	probably benign	Het
Ddx25	T	C	9: 35,453,298 (GRCm39)	Y484C	probably damaging	Het
Dennd6b	A	G	15: 89,073,075 (GRCm39)	V154A	probably damaging	Het
Dmxl1	G	A	18: 49,990,316 (GRCm39)	V252I	probably benign	Het
Dnah2	T	C	11: 69,341,876 (GRCm39)	Y3003C	probably damaging	Het
Dnhd1	T	C	7: 105,370,480 (GRCm39)		probably null	Het
Dppa4	G	A	16: 48,111,596 (GRCm39)	A194T	probably damaging	Het
Dst	T	C	1: 34,228,527 (GRCm39)	V2218A	possibly damaging	Het
Dytn	G	C	1: 63,673,032 (GRCm39)	S457C	probably damaging	Het
Fndc3a	G	A	14: 72,777,768 (GRCm39)	Q1101*	probably null	Het
Focad	A	T	4: 88,275,679 (GRCm39)		probably null	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gm5093	A	G	17: 46,750,622 (GRCm39)	F135S	probably benign	Het
Gmeb1	A	T	4: 131,969,759 (GRCm39)	D71E	possibly damaging	Het
Heatr5b	G	A	17: 79,124,992 (GRCm39)	R587C	probably damaging	Het
Jakmip2	T	C	18: 43,692,279 (GRCm39)		probably null	Het
Mier3	T	A	13: 111,841,778 (GRCm39)	L111Q	probably damaging	Het
Mrgprg	G	A	7: 143,318,779 (GRCm39)	S111F	possibly damaging	Het
Mybl1	T	C	1: 9,741,901 (GRCm39)	K677R	probably benign	Het
Nhsl1	T	C	10: 18,407,323 (GRCm39)	S1486P	probably damaging	Het
Nup133	A	G	8: 124,642,114 (GRCm39)	I783T	probably benign	Het
Or10d4c	A	T	9: 39,558,459 (GRCm39)	T146S	probably benign	Het
Or5an1c	A	T	19: 12,218,956 (GRCm39)	I23K	probably benign	Het
Pigr	A	T	1: 130,769,281 (GRCm39)	I31L	probably benign	Het
Plaat5	A	G	19: 7,616,999 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Pramel6	T	A	2: 87,338,917 (GRCm39)	M39K	possibly damaging	Het
Rapgef6	T	A	11: 54,530,553 (GRCm39)		probably null	Het
Rinl	T	C	7: 28,496,329 (GRCm39)	C437R	probably damaging	Het
Shank1	T	C	7: 43,965,499 (GRCm39)	S192P	unknown	Het
Slc2a10	A	T	2: 165,359,570 (GRCm39)	Y478F	probably damaging	Het
Slc37a3	A	T	6: 39,343,877 (GRCm39)	L12H	probably damaging	Het
Slit2	T	A	5: 48,414,393 (GRCm39)	C970S	possibly damaging	Het
Stard9	T	C	2: 120,496,857 (GRCm39)	S119P	probably damaging	Het
Stim2	C	A	5: 54,273,451 (GRCm39)	D568E	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf3	A	G	12: 111,221,757 (GRCm39)	E306G	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll6	T	C	11: 96,049,714 (GRCm39)	S811P	possibly damaging	Het
Ubr7	A	G	12: 102,735,437 (GRCm39)	K299E	probably benign	Het
Urb1	C	A	16: 90,593,380 (GRCm39)	V251L	probably damaging	Het
Vps13b	G	T	15: 35,422,590 (GRCm39)	E183D	probably damaging	Het
Zfp35	T	G	18: 24,136,557 (GRCm39)	Y300*	probably null	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp938	C	T	10: 82,063,632 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTGTAAACTGCCAGCAACATGG -3'
(R):5'- AGAGGTCATTTACTGCTTCAGGCAAG -3'

Sequencing Primer
(F):5'- GCTAATAGCAAGCATGTGGTCC -3'
(R):5'- TTCAGGCAAGCCTTGGAG -3'

Posted On

2014-03-14