Mutagenetix > Incidental Mutation

Incidental Mutation 'R5220:Acan'

402271

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

042793-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79088297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 250 (E250G)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: E250G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E250G

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	A	G	7: 139,875,596	N380S	probably benign	Het
Ap3d1	G	A	10: 80,727,167	P160L	probably damaging	Het
Atg9a	C	T	1: 75,185,728	V505M	probably damaging	Het
Chsy3	A	T	18: 59,410,030	I747F	probably damaging	Het
Clec2g	A	G	6: 128,981,306	S100G	probably benign	Het
Cmya5	G	T	13: 93,092,296	P2095T	probably damaging	Het
Dcaf10	T	C	4: 45,373,909	W445R	possibly damaging	Het
Espl1	T	A	15: 102,298,577	L159M	probably benign	Het
Fam126a	A	C	5: 23,965,222	S376R	possibly damaging	Het
Fbxw8	T	C	5: 118,095,711	D285G	possibly damaging	Het
Fras1	C	T	5: 96,768,363	R3419W	probably damaging	Het
Galc	T	A	12: 98,231,413		probably null	Het
Ghdc	T	C	11: 100,769,717	E110G	probably damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
H2-T24	T	C	17: 36,014,670	T309A	probably benign	Het
Helb	A	C	10: 120,101,486	F618V	probably damaging	Het
Ifi211	A	G	1: 173,907,696	F56L	probably damaging	Het
Kntc1	T	C	5: 123,812,097	F1988L	probably damaging	Het
Mapk13	G	A	17: 28,778,491	S361N	probably benign	Het
Mapk3	A	G	7: 126,764,236	I146V	probably benign	Het
Megf6	G	A	4: 154,253,838		probably null	Het
Mug1	G	T	6: 121,861,133	V441F	probably benign	Het
Mymk	A	G	2: 27,062,214	S173P	probably benign	Het
Nox4	A	G	7: 87,374,408	T501A	possibly damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr155	C	A	4: 43,854,624	S105Y	possibly damaging	Het
Olfr666	T	C	7: 104,892,897	T244A	possibly damaging	Het
Prkcb	C	A	7: 122,289,455	H37Q	probably damaging	Het
Rabggtb	A	G	3: 153,909,387	F189L	probably damaging	Het
Setd1b	T	C	5: 123,143,408	I75T	unknown	Het
Slc10a5	T	A	3: 10,335,088	R171*	probably null	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Slc1a5	T	A	7: 16,793,834	W352R	probably damaging	Het
Slc22a27	C	G	19: 7,865,938	A359P	probably damaging	Het
St8sia4	A	G	1: 95,627,735	M190T	probably damaging	Het
Tmeff2	A	G	1: 50,979,317	M153V	probably benign	Het
Trappc12	T	C	12: 28,746,697	T279A	probably damaging	Het
Ubn1	G	T	16: 5,077,954	A955S	probably benign	Het
Usp24	T	A	4: 106,382,303	H1147Q	possibly damaging	Het
Vrk1	T	A	12: 106,073,606		probably null	Het
Zdhhc25	T	A	15: 88,601,162	Y233*	probably null	Het
Zfp109	A	G	7: 24,228,754	V418A	probably benign	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
R2971:Acan	UTSW	7	79099699	missense	possibly damaging	0.46
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
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
R9509:Acan	UTSW	7	79091020	missense	probably damaging	0.96
R9549:Acan	UTSW	7	79092328	missense	probably damaging	1.00
R9572:Acan	UTSW	7	79098729	missense	probably damaging	0.99
R9645:Acan	UTSW	7	79099905	missense	probably benign	0.00
R9742:Acan	UTSW	7	79099367	missense	probably benign	0.00
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'- TGCAGAGCAGACTTGGACAG -3'
(R):5'- CCCCTTCAAAGTGAATAGCATGG -3'

Sequencing Primer
(F):5'- TGGCTACAAGGACAGTGACTTTG -3'
(R):5'- GATTCCAGCAAGAGACCATTGCTG -3'

Posted On

2016-07-22