Mutagenetix > Incidental Mutations

Incidental Mutation 'R8482:Acan'

657566

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79096744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 711 (V711I)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: V711I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: V711I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	C	T	13: 66,431,738		probably benign	Het
Adprh	A	T	16: 38,447,509	M138K	probably damaging	Het
Ahctf1	A	G	1: 179,763,542		probably benign	Het
Atg9a	G	A	1: 75,186,226	T410M	probably damaging	Het
Atxn1	A	T	13: 45,567,950	S156R	possibly damaging	Het
Bptf	T	C	11: 107,043,698	T2850A	probably benign	Het
Cc2d2a	A	T	5: 43,695,239	Y386F	probably damaging	Het
Ccdc97	T	C	7: 25,715,002	D109G	probably damaging	Het
Chd5	C	T	4: 152,356,690	R196*	probably null	Het
Clec4a2	T	C	6: 123,123,671		probably null	Het
Col13a1	A	G	10: 61,884,698	I317T	probably damaging	Het
D630003M21Rik	G	T	2: 158,216,932	S349R	probably benign	Het
Eml5	C	A	12: 98,876,301	L179F	probably damaging	Het
Ets2	A	T	16: 95,714,975	M200L	probably benign	Het
Fam189a2	T	A	19: 23,988,502	N211I	probably damaging	Het
Fam213a	C	T	14: 40,997,766	E164K	probably benign	Het
Fat3	T	C	9: 16,246,967	T1116A	probably benign	Het
Fhit	A	G	14: 10,751,616	V24A	probably benign	Het
Gm6685	T	C	11: 28,339,195	N207S	probably benign	Het
Hdc	G	A	2: 126,594,205	T582M	probably benign	Het
Hmgxb4	G	A	8: 75,029,594	C575Y	probably damaging	Het
Kidins220	T	A	12: 25,040,528	S1164T	probably benign	Het
Ldb1	C	A	19: 46,036,270	D5Y	probably null	Het
Lpcat1	G	A	13: 73,510,925	R320H	probably benign	Het
Lrfn4	T	C	19: 4,614,305	D67G	probably damaging	Het
Myo15b	C	T	11: 115,883,257	Q550*	probably null	Het
Myo18b	C	A	5: 112,871,623	E43*	probably null	Het
Neurl1a	T	C	19: 47,253,280	C271R	probably damaging	Het
Nfasc	T	C	1: 132,605,089	S690G	probably damaging	Het
Ngly1	T	C	14: 16,310,377	S501P	probably benign	Het
Nlrp1a	A	T	11: 71,109,075		probably null	Het
Npw	A	G	17: 24,657,422	W172R	probably benign	Het
Nudt8	T	C	19: 4,000,849		probably null	Het
Nyap2	A	T	1: 81,241,637	Y458F	probably damaging	Het
Olfr1118	G	A	2: 87,309,382	V198I	probably benign	Het
Osbpl5	T	A	7: 143,704,994	T280S	probably benign	Het
Pex1	A	T	5: 3,612,923	I505F	probably benign	Het
Pfkm	A	G	15: 98,131,983	E756G	probably benign	Het
Pkd2l2	A	G	18: 34,425,113	I282V	possibly damaging	Het
Pnpla8	T	C	12: 44,283,627	S321P	probably benign	Het
Qdpr	G	T	5: 45,439,346	Q159K	probably benign	Het
Rac2	T	C	15: 78,566,006	M45V	probably benign	Het
Rnaset2b	G	A	17: 6,996,509		probably null	Het
Rpl38	T	A	11: 114,672,288	*71R	probably null	Het
Sacs	G	T	14: 61,202,955	V817L	probably benign	Het
Selenot	T	C	3: 58,588,468	F133S	probably damaging	Het
Sgcg	G	A	14: 61,240,407	L78F	probably damaging	Het
Slc19a1	A	G	10: 77,049,663	R466G	probably benign	Het
Tpr	A	G	1: 150,433,700	T1736A	probably damaging	Het
Zfhx3	A	G	8: 108,947,879	I1854V	probably benign	Het
Zfp652	T	C	11: 95,752,893	S306P	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
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
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'- TCTTGTACAGGACAGGTGTACCTC -3'
(R):5'- ATTCCATAGCAGGCAGGAGTG -3'

Sequencing Primer
(F):5'- ACAGGTGTACCTCAGGGTC -3'
(R):5'- AGTGCACGTGGCTTCAG -3'

Posted On

2021-01-18