Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Cnmd'

486411

Institutional Source

Beutler Lab

Gene Symbol

Cnmd

Ensembl Gene

ENSMUSG00000022025

Gene Name

chondromodulin

Synonyms

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

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6033 (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 79898945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 36 (S36G)

Ref Sequence

ENSEMBL: ENSMUSP00000022603 (fasta)

Gene Model

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

AlphaFold

Q9Z1F6

Predicted Effect

probably benign
Transcript: ENSMUST00000022603
AA Change: S36G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022603
Gene: ENSMUSG00000022025
AA Change: S36G

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: S36G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126958
Gene: ENSMUSG00000022025
AA Change: S36G

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

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,645,551 (GRCm39)	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alas1	A	G	9: 106,118,403 (GRCm39)	S240P	probably damaging	Het
Alox12e	C	T	11: 70,206,839 (GRCm39)	G616D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,324,787 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,069,198 (GRCm39)	E72G	probably damaging	Het
Cmtm8	T	C	9: 114,625,141 (GRCm39)	T97A	probably damaging	Het
Dnah3	A	C	7: 119,670,870 (GRCm39)	N609K	probably benign	Het
Dph1	C	T	11: 75,082,023 (GRCm39)		probably benign	Het
Drosha	G	A	15: 12,926,085 (GRCm39)	A1225T	probably benign	Het
Eid3	T	A	10: 82,703,487 (GRCm39)	I316K	probably damaging	Het
Erich6	A	G	3: 58,530,622 (GRCm39)	L449S	probably benign	Het
Fhod1	T	C	8: 106,063,066 (GRCm39)		probably benign	Het
Glra1	A	G	11: 55,418,245 (GRCm39)	Y250H	probably damaging	Het
Gm21972	T	C	1: 86,064,817 (GRCm39)	Y950H	probably damaging	Het
Gm6712	T	A	17: 17,514,678 (GRCm39)		noncoding transcript	Het
Grb7	C	T	11: 98,346,023 (GRCm39)		probably null	Het
Hivep1	A	G	13: 42,310,583 (GRCm39)	E941G	probably benign	Het
Homer2	A	C	7: 81,268,427 (GRCm39)	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799 (GRCm39)		probably null	Het
Ifna12	T	C	4: 88,521,154 (GRCm39)	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,635,207 (GRCm39)	Y79C	probably damaging	Het
Incenp	C	T	19: 9,850,061 (GRCm39)	V871I	probably damaging	Het
Jaml	G	A	9: 45,000,008 (GRCm39)	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,193 (GRCm39)	C110Y	probably damaging	Het
Manba	T	C	3: 135,255,022 (GRCm39)	V460A	probably benign	Het
Myrfl	A	T	10: 116,685,006 (GRCm39)	C125S	probably benign	Het
Ncan	T	C	8: 70,565,240 (GRCm39)	D229G	probably damaging	Het
Ncoa4-ps	A	G	12: 119,225,475 (GRCm39)		noncoding transcript	Het
Nlrp10	A	T	7: 108,523,784 (GRCm39)	D565E	probably benign	Het
Npas2	T	C	1: 39,377,261 (GRCm39)	V541A	probably damaging	Het
Nsg2	G	A	11: 32,005,058 (GRCm39)	V87M	possibly damaging	Het
Or5al6	A	T	2: 85,976,613 (GRCm39)	V155E	probably damaging	Het
Prkd2	C	T	7: 16,599,639 (GRCm39)	R701C	probably damaging	Het
Prr3	A	T	17: 36,289,516 (GRCm39)		probably null	Het
Prr5	A	G	15: 84,626,126 (GRCm39)	E67G	probably damaging	Het
Prss36	T	C	7: 127,533,739 (GRCm39)	R22G	probably benign	Het
Slc45a4	G	A	15: 73,453,825 (GRCm39)	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,356,833 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,609,099 (GRCm39)	I768T	probably benign	Het
Slco6c1	C	T	1: 97,009,041 (GRCm39)		probably null	Het
Taar2	A	T	10: 23,816,874 (GRCm39)	H138L	probably benign	Het
Taf2	A	C	15: 54,922,297 (GRCm39)	L330R	probably damaging	Het
Tgm5	T	C	2: 120,901,210 (GRCm39)		probably null	Het
Tmed4	A	T	11: 6,224,491 (GRCm39)	Y56*	probably null	Het
Tmem156	A	T	5: 65,232,964 (GRCm39)	F135L	probably benign	Het
Ttll6	T	C	11: 96,025,713 (GRCm39)	S65P	probably damaging	Het
Ttn	C	T	2: 76,557,171 (GRCm39)	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,447,159 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,512,419 (GRCm39)	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,137 (GRCm39)	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,318,599 (GRCm39)	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,340,397 (GRCm39)	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,236,419 (GRCm39)	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,554,464 (GRCm39)	S481P	probably benign	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
R7421:Cnmd	UTSW	14	79,882,947 (GRCm39)	missense	probably benign	0.25
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'- CCTGTACCCACTTTAGGCTAGAC -3'
(R):5'- TCTGAGGACAAGGGACACTC -3'

Sequencing Primer
(F):5'- TGGCTCCACCTAGGGGTTC -3'
(R):5'- TCGCAAGGCAACCTCTGAGTG -3'

Posted On

2017-08-16