Mutagenetix > Incidental Mutations

Incidental Mutation 'R2971:Acan'

265677

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

040525-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79099699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1406 (D1406G)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032835]

AlphaFold

Q61282

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032835
AA Change: D1406G

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: D1406G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	46	135	3.46e-7	SMART
LINK	151	248	1.76e-59	SMART
LINK	252	350	4.13e-65	SMART
LINK	485	582	1.03e-51	SMART
LINK	586	684	9.58e-61	SMART
low complexity region	767	794	N/A	INTRINSIC
low complexity region	845	859	N/A	INTRINSIC
low complexity region	890	904	N/A	INTRINSIC
low complexity region	913	930	N/A	INTRINSIC
low complexity region	966	987	N/A	INTRINSIC
low complexity region	1455	1468	N/A	INTRINSIC
low complexity region	1484	1495	N/A	INTRINSIC
low complexity region	1707	1720	N/A	INTRINSIC
low complexity region	1808	1823	N/A	INTRINSIC
low complexity region	1904	1915	N/A	INTRINSIC
CLECT	1922	2043	2.13e-37	SMART
CCP	2049	2105	9.32e-11	SMART
low complexity region	2118	2130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206779

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (35/35)

MGI Phenotype

PHENOTYPE: Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	C	6: 140,633,898		probably null	Het
Ap5m1	T	A	14: 49,083,882	Y49*	probably null	Het
Atp8b5	T	C	4: 43,361,953		probably benign	Het
Baz1a	A	G	12: 54,923,439	S518P	probably damaging	Het
Ces1c	T	A	8: 93,104,193	D445V	probably benign	Het
Ctnnbl1	C	T	2: 157,871,186	H464Y	probably benign	Het
Cyp2j6	T	C	4: 96,531,781	K238E	probably benign	Het
Gdf10	G	A	14: 33,924,191	R99H	probably damaging	Het
Gm4779	G	A	X: 101,792,962	P116L	possibly damaging	Het
Gucy2g	A	G	19: 55,210,276	S812P	probably damaging	Het
Ifit3b	C	T	19: 34,612,017	Q198*	probably null	Het
Irgm1	A	T	11: 48,866,590	Y131*	probably null	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Myh7b	A	G	2: 155,632,255	N1630S	probably benign	Het
Myo5a	T	C	9: 75,116,202	I15T	probably damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nme6	A	G	9: 109,842,091		probably benign	Het
Olfr1040	T	C	2: 86,146,564	T57A	probably damaging	Het
Olfr741	T	A	14: 50,485,608	I50N	probably damaging	Het
Plch2	T	G	4: 154,990,767	M797L	probably benign	Het
Plscr2	G	T	9: 92,290,671	E128*	probably null	Het
Plxna2	T	A	1: 194,797,731	D1403E	probably damaging	Het
Pou6f2	T	C	13: 18,381,967	T25A	unknown	Het
Psmb11	T	C	14: 54,625,343	V6A	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptprd	T	G	4: 76,107,324	S546R	probably benign	Het
Rbp3	A	G	14: 33,954,454	N120D	probably benign	Het
Skint1	C	A	4: 112,021,330	P153H	possibly damaging	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Tmem201	A	G	4: 149,722,445		probably benign	Het
Ube2v1	T	C	2: 167,610,336	N89D	probably damaging	Het
Zfp282	A	T	6: 47,897,932		probably null	Het
Zfp560	C	A	9: 20,348,944	M207I	probably benign	Het
Zfp697	T	C	3: 98,428,301	Y461H	probably damaging	Het

Other mutations in Acan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Acan	APN	7	79097824	missense	probably benign	0.00
IGL01118:Acan	APN	7	79098653	missense	possibly damaging	0.78
IGL01145:Acan	APN	7	79099282	missense	probably damaging	1.00
IGL01308:Acan	APN	7	79099249	missense	probably damaging	0.98
IGL01520:Acan	APN	7	79084570	missense	probably damaging	0.96
IGL02069:Acan	APN	7	79092752	missense	possibly damaging	0.83
IGL02629:Acan	APN	7	79111979	missense	possibly damaging	0.90
IGL02713:Acan	APN	7	79100244	missense	possibly damaging	0.90
IGL03001:Acan	APN	7	79111294	missense	probably damaging	0.99
IGL03081:Acan	APN	7	79098543	missense	probably benign	0.01
Disproportion	UTSW	7	79092318	missense	probably damaging	0.98
Hollowleg	UTSW	7	79098348	nonsense	probably null
Sublimate	UTSW	7	79111320	missense	probably damaging	0.97
Vacuo	UTSW	7	79088307	critical splice donor site	probably null
IGL03147:Acan	UTSW	7	79091056	missense	probably damaging	1.00
R0281:Acan	UTSW	7	79100285	missense	probably damaging	1.00
R0372:Acan	UTSW	7	79100601	missense	probably benign	0.00
R0599:Acan	UTSW	7	79111290	splice site	probably benign
R0827:Acan	UTSW	7	79099671	missense	probably benign	0.00
R0835:Acan	UTSW	7	79114232	missense	probably damaging	0.96
R1496:Acan	UTSW	7	79100804	missense	probably benign	0.06
R1716:Acan	UTSW	7	79082198	missense	unknown
R1761:Acan	UTSW	7	79094085	nonsense	probably null
R1848:Acan	UTSW	7	79099035	missense	probably benign
R2002:Acan	UTSW	7	79100793	missense	probably damaging	1.00
R2025:Acan	UTSW	7	79101222	missense	probably benign
R2167:Acan	UTSW	7	79099957	missense	probably benign	0.41
R2189:Acan	UTSW	7	79098091	missense	probably damaging	1.00
R2303:Acan	UTSW	7	79099957	missense	probably benign	0.41
R2496:Acan	UTSW	7	79111317	missense	probably damaging	1.00
R4004:Acan	UTSW	7	79100687	missense	probably damaging	1.00
R4669:Acan	UTSW	7	79101142	missense	probably benign	0.01
R4732:Acan	UTSW	7	79098609	missense	probably damaging	0.99
R4733:Acan	UTSW	7	79098609	missense	probably damaging	0.99
R4742:Acan	UTSW	7	79100769	missense	probably benign	0.41
R4750:Acan	UTSW	7	79092718	missense	probably damaging	1.00
R5022:Acan	UTSW	7	79092808	critical splice donor site	probably null
R5122:Acan	UTSW	7	79100661	missense	probably damaging	0.99
R5190:Acan	UTSW	7	79098541	missense	probably benign	0.03
R5220:Acan	UTSW	7	79088297	missense	probably damaging	0.96
R5414:Acan	UTSW	7	79100988	missense	probably benign	0.00
R5525:Acan	UTSW	7	79099983	missense	probably benign
R5655:Acan	UTSW	7	79100043	missense	possibly damaging	0.89
R5662:Acan	UTSW	7	79100107	missense	possibly damaging	0.78
R5748:Acan	UTSW	7	79089699	missense	probably damaging	0.98
R5758:Acan	UTSW	7	79101214	missense	possibly damaging	0.67
R5996:Acan	UTSW	7	79111320	missense	probably damaging	0.97
R6057:Acan	UTSW	7	79099782	missense	probably null
R6503:Acan	UTSW	7	79097832	missense	probably benign	0.04
R6529:Acan	UTSW	7	79089731	missense	probably benign	0.16
R6887:Acan	UTSW	7	79092483	missense	probably damaging	1.00
R7041:Acan	UTSW	7	79098348	nonsense	probably null
R7193:Acan	UTSW	7	79086342	missense	probably damaging	1.00
R7220:Acan	UTSW	7	79108148	missense
R7263:Acan	UTSW	7	79092318	missense	probably damaging	0.98
R7376:Acan	UTSW	7	79088307	critical splice donor site	probably null
R7502:Acan	UTSW	7	79094203	missense	probably damaging	1.00
R7571:Acan	UTSW	7	79086267	missense	probably damaging	1.00
R7709:Acan	UTSW	7	79089608	missense	probably damaging	1.00
R7835:Acan	UTSW	7	79099875	missense	probably benign	0.08
R8051:Acan	UTSW	7	79100779	missense	probably damaging	0.96
R8131:Acan	UTSW	7	79091338	missense	possibly damaging	0.92
R8138:Acan	UTSW	7	79098427	missense	probably benign	0.12
R8324:Acan	UTSW	7	79091056	missense	probably damaging	1.00
R8482:Acan	UTSW	7	79096744	missense	probably benign	0.02
R8511:Acan	UTSW	7	79097935	missense	possibly damaging	0.94
R8716:Acan	UTSW	7	79112690	missense	probably damaging	1.00
R8753:Acan	UTSW	7	79098768	missense	possibly damaging	0.83
R8810:Acan	UTSW	7	79099704	missense	probably damaging	1.00
R8898:Acan	UTSW	7	79100353	missense	possibly damaging	0.59
R8956:Acan	UTSW	7	79100965	missense	probably benign	0.00
R9199:Acan	UTSW	7	79086309	missense	probably damaging	1.00
RF008:Acan	UTSW	7	79092400	missense	possibly damaging	0.83
Z1088:Acan	UTSW	7	79088200	nonsense	probably null
Z1088:Acan	UTSW	7	79100110	missense	probably benign	0.41
Z1088:Acan	UTSW	7	79111354	missense	probably benign
Z1176:Acan	UTSW	7	79111354	missense	probably benign
Z1177:Acan	UTSW	7	79094170	missense	probably damaging	0.96
Z1177:Acan	UTSW	7	79100137	missense	probably damaging	0.99
Z1177:Acan	UTSW	7	79111354	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGGCCAAGCATCTGGATC -3'
(R):5'- TGTAATGCCAGAAGACTCTCC -3'

Sequencing Primer
(F):5'- TCTCCTGATAGCAGTGGAGAAACATC -3'
(R):5'- GAAGACTCTCCACTGCCACTTATG -3'

Posted On

2015-02-05