Mutagenetix > Incidental Mutation

Incidental Mutation 'R7421:Cnmd'

575689

Institutional Source

Beutler Lab

Gene Symbol

Cnmd

Ensembl Gene

ENSMUSG00000022025

Gene Name

chondromodulin

Synonyms

Bricd3, Chondromodulin 1, Chmd, ChM-I, Lect1

MMRRC Submission

045499-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79875130-79899610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79882947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 160 (I160V)

Ref Sequence

ENSEMBL: ENSMUSP00000126958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022603] [ENSMUST00000165835]

AlphaFold

Q9Z1F6

Predicted Effect

probably benign
Transcript: ENSMUST00000022603
AA Change: I160V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: I160V

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
BRICHOS	105	201	1.24e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165835
AA Change: I160V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: I160V

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
BRICHOS	105	201	1.24e-33	SMART

Meta Mutation Damage Score

0.0856

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and show no gross morphologic defects. While cartilage development and embryonic endochondral bone formation were found to be normal in mutant mice, one line of targeted mutants showed increased bone density and impairedbone resorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,397,915 (GRCm39)	I309T	possibly damaging	Het
Abca12	A	C	1: 71,286,295 (GRCm39)	L2513*	probably null	Het
Abca13	G	C	11: 9,460,463 (GRCm39)	V4158L	probably benign	Het
Acaca	A	G	11: 84,254,562 (GRCm39)	T1880A	possibly damaging	Het
Arhgap5	C	T	12: 52,564,783 (GRCm39)	R585C	probably benign	Het
Arsk	A	C	13: 76,210,634 (GRCm39)	I471S	possibly damaging	Het
Asb7	T	C	7: 66,309,868 (GRCm39)	D116G	probably damaging	Het
Atad2	A	G	15: 57,998,322 (GRCm39)	S17P	probably benign	Het
Atf5	T	C	7: 44,464,562 (GRCm39)	E10G	probably damaging	Het
B3gntl1	G	T	11: 121,515,004 (GRCm39)	P255T	probably benign	Het
Cacna1s	A	G	1: 136,014,540 (GRCm39)	N649S	probably damaging	Het
Ccnc	A	G	4: 21,743,291 (GRCm39)	Y192C	probably damaging	Het
Cd28	A	G	1: 60,802,459 (GRCm39)	N126S	probably benign	Het
Cep57	A	G	9: 13,721,969 (GRCm39)	S360P	possibly damaging	Het
Ces1e	C	T	8: 93,941,703 (GRCm39)	V257I	probably benign	Het
Chd1	A	G	17: 15,969,660 (GRCm39)	K913R	probably benign	Het
Cluap1	A	T	16: 3,758,657 (GRCm39)	D373V	probably damaging	Het
Col6a4	G	A	9: 105,897,994 (GRCm39)	P1686S	probably damaging	Het
Coro7	G	T	16: 4,486,615 (GRCm39)	A186E	probably benign	Het
Cuta	T	C	17: 27,158,431 (GRCm39)		probably benign	Het
Dnah2	G	A	11: 69,383,631 (GRCm39)	H1098Y	probably benign	Het
Duox1	T	A	2: 122,153,711 (GRCm39)	C345S	probably damaging	Het
Ephb4	T	A	5: 137,352,687 (GRCm39)	I90K	possibly damaging	Het
Erich3	T	A	3: 154,439,198 (GRCm39)	M280K	probably damaging	Het
Fcer2a	T	A	8: 3,740,335 (GRCm39)	H4L	probably benign	Het
Grk1	A	T	8: 13,455,316 (GRCm39)	I67F	probably damaging	Het
Grm8	A	C	6: 27,762,476 (GRCm39)	S250A	possibly damaging	Het
H2-Q6	A	G	17: 35,644,204 (GRCm39)	E62G	possibly damaging	Het
Inppl1	C	T	7: 101,482,144 (GRCm39)	R144H	probably damaging	Het
Itga3	G	T	11: 94,959,681 (GRCm39)	P33Q	probably benign	Het
Itgax	G	A	7: 127,739,604 (GRCm39)	S672N	probably damaging	Het
Itpk1	A	T	12: 102,540,324 (GRCm39)	V253E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Mrps7	T	C	11: 115,495,717 (GRCm39)	V85A	probably benign	Het
Muc2	T	C	7: 141,301,863 (GRCm39)	L427P		Het
Myef2	G	T	2: 124,952,537 (GRCm39)	Q185K	probably benign	Het
Or1e1b-ps1	G	T	11: 73,846,335 (GRCm39)	C273F	unknown	Het
Or4a76	T	A	2: 89,460,915 (GRCm39)	D109V	probably damaging	Het
Pcdh15	G	A	10: 74,289,897 (GRCm39)	M905I	possibly damaging	Het
Pgm5	C	T	19: 24,686,663 (GRCm39)	V515M	probably benign	Het
Pik3r1	A	G	13: 101,825,644 (GRCm39)	I381T	probably damaging	Het
Pla2g4f	A	G	2: 120,137,737 (GRCm39)	M341T	probably benign	Het
Prmt2	A	G	10: 76,056,912 (GRCm39)	F204L	probably benign	Het
Pwwp3a	T	A	10: 80,068,587 (GRCm39)	S244T	probably benign	Het
Rasa2	A	G	9: 96,493,500 (GRCm39)	V50A	unknown	Het
Scn7a	A	C	2: 66,505,876 (GRCm39)	I1671S	probably benign	Het
Sco2	G	A	15: 89,255,923 (GRCm39)	R244C	possibly damaging	Het
Skic3	A	T	13: 76,296,944 (GRCm39)	K1100N	probably benign	Het
Slfn1	A	G	11: 83,011,967 (GRCm39)	M28V	possibly damaging	Het
Slfn9	A	T	11: 82,872,197 (GRCm39)	C846*	probably null	Het
Slfn9	A	G	11: 82,878,562 (GRCm39)	I189T	probably damaging	Het
Svil	T	A	18: 5,056,109 (GRCm39)	S327R	probably benign	Het
Tcaf3	A	T	6: 42,573,776 (GRCm39)	N145K	probably benign	Het
Trarg1	G	A	11: 76,585,051 (GRCm39)	R147Q	unknown	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Upp2	G	T	2: 58,661,586 (GRCm39)	V130F	possibly damaging	Het
Vnn3	G	A	10: 23,741,666 (GRCm39)	A324T	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp39	A	T	11: 58,780,933 (GRCm39)	C610S	probably damaging	Het

Other mutations in Cnmd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01995:Cnmd	APN	14	79,879,508 (GRCm39)	splice site	probably benign
IGL02556:Cnmd	APN	14	79,899,400 (GRCm39)	missense	probably benign	0.00
IGL03034:Cnmd	APN	14	79,879,368 (GRCm39)	missense	probably benign
R0529:Cnmd	UTSW	14	79,879,481 (GRCm39)	missense	probably benign	0.00
R0811:Cnmd	UTSW	14	79,898,863 (GRCm39)	missense	probably damaging	1.00
R0812:Cnmd	UTSW	14	79,898,863 (GRCm39)	missense	probably damaging	1.00
R0844:Cnmd	UTSW	14	79,879,391 (GRCm39)	missense	probably benign	0.37
R2401:Cnmd	UTSW	14	79,894,045 (GRCm39)	missense	probably damaging	0.98
R2419:Cnmd	UTSW	14	79,875,488 (GRCm39)	missense	probably damaging	1.00
R3697:Cnmd	UTSW	14	79,875,421 (GRCm39)	missense	probably damaging	1.00
R4640:Cnmd	UTSW	14	79,894,093 (GRCm39)	missense	probably damaging	1.00
R4841:Cnmd	UTSW	14	79,887,762 (GRCm39)	missense	possibly damaging	0.94
R4845:Cnmd	UTSW	14	79,899,448 (GRCm39)	missense	probably benign
R5157:Cnmd	UTSW	14	79,894,126 (GRCm39)	missense	probably benign	0.39
R5959:Cnmd	UTSW	14	79,894,109 (GRCm39)	missense	probably damaging	1.00
R6033:Cnmd	UTSW	14	79,898,945 (GRCm39)	missense	probably benign	0.00
R6033:Cnmd	UTSW	14	79,898,945 (GRCm39)	missense	probably benign	0.00
R7640:Cnmd	UTSW	14	79,898,974 (GRCm39)	missense	possibly damaging	0.86
R8007:Cnmd	UTSW	14	79,875,406 (GRCm39)	missense	probably damaging	1.00
R8350:Cnmd	UTSW	14	79,882,821 (GRCm39)	nonsense	probably null
R8450:Cnmd	UTSW	14	79,882,821 (GRCm39)	nonsense	probably null
R9009:Cnmd	UTSW	14	79,894,085 (GRCm39)	missense	probably damaging	1.00
R9745:Cnmd	UTSW	14	79,887,850 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TCCCAAGCTACATGAGTCCC -3'
(R):5'- TTGCAGCTGTCTAGAAGCAG -3'

Sequencing Primer
(F):5'- GGAGAATTCCAAGCCTTGTTAGC -3'
(R):5'- AGCTGTCTAGAAGCAGGGTGTTG -3'

Posted On

2019-10-07