Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Acan'

235546

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

040170-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2167 (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 79099957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1492 (E1492G)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: E1492G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E1492G

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

unknown
Transcript: ENSMUST00000206779
AA Change: E69G

Meta Mutation Damage Score

0.0935

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,288,532	T710M	probably benign	Het
Acsl1	A	G	8: 46,533,590	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,327,157	T207K	probably benign	Het
Ahnak	A	T	19: 9,011,494	K3381*	probably null	Het
Art1	T	C	7: 102,106,824	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,662,504	W270R	probably benign	Het
Calm2	T	C	17: 87,435,145	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,854,084	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,317,677	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,413,193	T768A	probably damaging	Het
Cog5	T	C	12: 31,837,289	F470L	probably damaging	Het
Cpne5	T	C	17: 29,162,332	D374G	probably damaging	Het
Disp2	A	C	2: 118,791,685	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,873,919		probably benign	Het
Eif2b3	T	A	4: 117,028,540	I93N	probably damaging	Het
Elfn2	C	A	15: 78,672,446	V634L	probably benign	Het
Fasl	T	G	1: 161,787,138	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,902	P701A	probably damaging	Het
Helz	T	A	11: 107,672,964		probably benign	Het
Kctd6	T	C	14: 8,222,683	V175A	probably benign	Het
Leo1	A	G	9: 75,445,709	N178S	probably benign	Het
Lhx6	C	A	2: 36,103,359	R80L	probably damaging	Het
Man1a2	A	G	3: 100,591,900	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,597,482	F231L	probably damaging	Het
Mknk2	A	G	10: 80,668,701	Y256H	probably damaging	Het
Msh6	A	G	17: 87,989,483	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,638,308	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,568,481	Q66K	probably benign	Het
Nsd2	T	A	5: 33,882,919	H933Q	probably damaging	Het
Olfr1341	T	C	4: 118,710,055	V216A	probably benign	Het
Olfr1564	T	A	17: 33,215,568	I262F	probably damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr709-ps1	A	G	7: 106,926,590	Y290H	probably damaging	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rassf6	C	T	5: 90,603,938	E308K	probably damaging	Het
Rb1	T	C	14: 73,211,651	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,110,853	I104F	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnase6	A	C	14: 51,130,517	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Het
Sec31b	G	A	19: 44,543,353	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,173,681	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,491,501	Y261*	probably null	Het
Supt6	G	A	11: 78,208,167	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,326,455		probably benign	Het
Telo2	A	G	17: 25,110,818	V240A	probably benign	Het
Trhr	C	T	15: 44,229,242	L292F	probably damaging	Het
Trps1	G	A	15: 50,831,730	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429		probably benign	Het
Yeats2	T	C	16: 20,213,401		probably benign	Het
Zbtb39	G	A	10: 127,742,975	E473K	probably benign	Het
Zfp235	T	A	7: 24,140,962	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,053,064	P141Q	possibly 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
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
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
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'- ATTTCTGATCTCAGTGGGCAGC -3'
(R):5'- ACTGCCATCAAATGCTCCTG -3'

Sequencing Primer
(F):5'- TCAGTGGGCAGCCCTCAG -3'
(R):5'- ATCAAATGCTCCTGAGGGC -3'

Posted On

2014-10-01