Mutagenetix > Incidental Mutations

Incidental Mutation 'R5122:Acan'

393344

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

042710-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79100661 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1727 (S1727P)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: S1727P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: S1727P

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: S304P

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,757		probably null	Het
Actr8	A	T	14: 29,982,715	K57N	possibly damaging	Het
Bcan	G	T	3: 87,994,207	S396Y	probably damaging	Het
Bmp2k	A	G	5: 97,087,015		probably benign	Het
Cd274	A	G	19: 29,380,565	H219R	possibly damaging	Het
Cdc16	A	T	8: 13,764,570	Y118F	probably damaging	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Chchd3	T	C	6: 32,968,305	R89G	probably benign	Het
Clstn2	C	T	9: 97,461,421	V658M	probably damaging	Het
Cpt1b	A	G	15: 89,424,023	S160P	probably benign	Het
Crym	T	C	7: 120,195,495	N167S	probably benign	Het
Dhx16	T	A	17: 35,883,310	Y438N	probably damaging	Het
Dnah12	A	G	14: 26,718,000	R536G	probably benign	Het
Dnajc11	A	G	4: 151,976,997	D382G	possibly damaging	Het
Dync1h1	G	A	12: 110,629,680	G1547D	probably damaging	Het
Eml3	T	A	19: 8,937,696		probably null	Het
Ep400	G	A	5: 110,668,170	P2799S	probably damaging	Het
Ephb6	T	C	6: 41,613,404	V30A	probably benign	Het
Fam53b	T	A	7: 132,779,262		probably benign	Het
Fcrl1	A	G	3: 87,385,774	K246R	probably benign	Het
Focad	G	A	4: 88,407,365		probably null	Het
Glipr1l2	T	C	10: 112,107,056	I272T	possibly damaging	Het
Gm597	A	G	1: 28,780,060	S47P	probably benign	Het
Gm8104	A	G	14: 43,109,093	I101V	probably benign	Het
Grm5	A	G	7: 88,074,820	I773V	probably damaging	Het
Hyal1	A	T	9: 107,578,069	T193S	probably benign	Het
Igkv10-94	C	A	6: 68,704,671	G62*	probably null	Het
Itsn1	A	G	16: 91,893,844		probably benign	Het
Kank4	A	G	4: 98,756,567	S983P	probably damaging	Het
Krtap16-1	C	A	11: 99,985,697	V294F	probably damaging	Het
Lama3	T	G	18: 12,539,766	V866G	possibly damaging	Het
Lrba	C	T	3: 86,349,154	R1268*	probably null	Het
Lrriq1	C	T	10: 103,187,453	V984I	probably damaging	Het
Macf1	A	C	4: 123,452,292	V4136G	probably damaging	Het
Mdn1	A	T	4: 32,670,593	E419D	probably damaging	Het
Nedd4l	A	G	18: 65,191,447	Y473C	probably damaging	Het
Nod2	G	T	8: 88,664,120	D330Y	probably damaging	Het
Nt5c2	C	T	19: 46,889,921	C458Y	probably damaging	Het
Numa1	T	C	7: 102,013,769	I681T	probably damaging	Het
Olfr713	C	A	7: 107,036,848	S231*	probably null	Het
Papolg	C	T	11: 23,867,501		probably null	Het
Parn	A	G	16: 13,654,447		probably null	Het
Pgap2	T	C	7: 102,231,391	F42S	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Pofut2	G	C	10: 77,268,565	R392P	probably damaging	Het
Prpf18	T	C	2: 4,643,709	D102G	probably damaging	Het
Rreb1	T	A	13: 37,930,768	I701N	probably benign	Het
Slc26a5	T	C	5: 21,847,196	K45R	probably damaging	Het
Slc8a3	A	G	12: 81,314,258		probably null	Het
Slf1	T	A	13: 77,049,987	M723L	probably benign	Het
Sra1	T	C	18: 36,667,594	T187A	probably benign	Het
Stk17b	A	C	1: 53,776,558	N27K	probably damaging	Het
Tbc1d9	T	A	8: 83,236,543	Y295N	probably damaging	Het
Tubgcp6	A	G	15: 89,116,103	V353A	probably damaging	Het
Unc80	A	T	1: 66,679,590	T2991S	possibly damaging	Het
Urb1	G	A	16: 90,752,095	R2242*	probably null	Het
Vasp	T	C	7: 19,264,772	N20S	probably benign	Het
Zfp263	A	G	16: 3,749,855	H390R	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
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
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
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'- ATCCATAGCTGCCACAACTG -3'
(R):5'- TCCATGGGTTGCTGTTTACC -3'

Sequencing Primer
(F):5'- CTCTGGGCTTCCGGAAGTTAC -3'
(R):5'- GTTGCTGTTTACCTCTGTGC -3'

Posted On

2016-06-15