Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Acan'

594462

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79089608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 255 (V255F)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: V255F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: V255F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,407,685	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,942,854	C170R	possibly damaging	Het
4932415D10Rik	A	C	10: 82,290,532	S2215A	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,587,410		probably null	Het
A2m	A	C	6: 121,660,104	T809P	possibly damaging	Het
Abca12	T	C	1: 71,335,728	D340G	probably benign	Het
Abcg8	A	T	17: 84,692,491	D191V	probably damaging	Het
Ace	G	A	11: 105,988,837	V1248I	probably benign	Het
Adgre1	A	T	17: 57,402,519	Q87L	unknown	Het
Adgrl1	G	A	8: 83,938,988	V1435M	probably benign	Het
Ano8	T	C	8: 71,482,289	D423G	probably damaging	Het
Aox3	T	C	1: 58,180,651	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,405,056	D114G	probably benign	Het
Baiap2l2	G	T	15: 79,259,711	N394K	probably benign	Het
Cap1	A	T	4: 122,862,674	C355S	probably damaging	Het
Ccdc25	A	T	14: 65,840,484	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,538,651	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,173,015		probably benign	Het
CN725425	C	A	15: 91,240,727	R157S	probably benign	Het
Coq8b	T	C	7: 27,250,537	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,990,060	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,374,411	V83A	possibly damaging	Het
Daam1	G	A	12: 71,977,649	R797H	probably benign	Het
Dab1	C	A	4: 104,720,559	S275*	probably null	Het
Dgkz	T	C	2: 91,937,059	E863G	probably benign	Het
Dhx34	G	A	7: 16,212,864	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,702,484		probably null	Het
Dnmt3b	C	A	2: 153,672,220	N384K	probably benign	Het
Dock5	A	G	14: 67,796,005	Y972H	probably benign	Het
Etv5	A	T	16: 22,412,847	Y138*	probably null	Het
Fdps	A	G	3: 89,101,090	S4P	probably damaging	Het
Gart	A	G	16: 91,622,965	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,879,494	H240L	probably damaging	Het
Gm34653	T	G	2: 34,838,425	C79G	probably damaging	Het
Gm4553	C	T	7: 142,165,647	G15R	unknown	Het
Gm572	C	T	4: 148,668,951	T351M	probably damaging	Het
Gpr3	A	T	4: 133,210,437	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,701,781	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,094,789	H661R	unknown	Het
Heatr4	A	T	12: 83,957,725	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Ift81	C	T	5: 122,609,331	V91M	probably damaging	Het
Igsf10	G	T	3: 59,331,543	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,260,399	V257A	probably benign	Het
Ina	A	T	19: 47,023,643	K500I		Het
Lce1i	A	T	3: 92,777,759	C37S	unknown	Het
Lrrc59	A	T	11: 94,634,985	D133V	probably damaging	Het
Magi3	A	G	3: 104,034,038	I867T	probably damaging	Het
Mmaa	T	A	8: 79,269,201	R298W	probably damaging	Het
Mon1a	G	T	9: 107,900,128	V77F	probably benign	Het
Mrc2	A	G	11: 105,346,459	T1030A	probably benign	Het
Mrps27	T	A	13: 99,404,996	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,011	M204K	probably damaging	Het
Mtus1	A	G	8: 41,054,650	I21T	possibly damaging	Het
Myh2	T	C	11: 67,194,864	V1844A	probably benign	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Nbr1	T	G	11: 101,556,241	F18V	probably damaging	Het
Npy2r	T	C	3: 82,540,382	N362S	probably benign	Het
Ocln	T	A	13: 100,539,598	Y129F	probably damaging	Het
Olfr1258	T	C	2: 89,929,881	I24T	probably benign	Het
Olfr31	T	C	14: 14,328,384	I91T	probably damaging	Het
Olfr898	A	G	9: 38,349,277	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,079,841		probably null	Het
Prss39	A	G	1: 34,502,628	D262G	probably damaging	Het
Ptk7	T	A	17: 46,571,643	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,537,327	I640T	possibly damaging	Het
Rogdi	A	G	16: 5,009,234	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,513,322	M283K	probably damaging	Het
Sardh	T	A	2: 27,241,517	T188S	possibly damaging	Het
Sebox	A	G	11: 78,504,093	E87G	probably damaging	Het
Smchd1	A	T	17: 71,358,198	M1830K	probably damaging	Het
Spink8	G	A	9: 109,816,780	V7I	probably benign	Het
Src	G	A	2: 157,457,244	V54M	probably benign	Het
Taar2	A	G	10: 23,940,723	I54V	probably benign	Het
Tpo	A	T	12: 30,131,860	V12E	possibly damaging	Het
Txk	T	C	5: 72,707,575	D373G	probably damaging	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Vil1	C	T	1: 74,426,595	T515M	probably benign	Het
Wdr47	G	T	3: 108,618,521	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,013,025	P335L	unknown	Het
Zfp148	T	A	16: 33,468,175	I220N	probably damaging	Het
Zfp992	A	T	4: 146,467,165	K448*	probably null	Het
Zfp994	T	C	17: 22,200,425	I514M	probably benign	Het
Zp2	A	T	7: 120,135,775	I429N	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
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'- TGGTGTCATCCTACCTAAAAGTTC -3'
(R):5'- TGGCGTGTAGATAGACAGTCC -3'

Sequencing Primer
(F):5'- CATCCTACCTAAAAGTTCTGAGAGG -3'
(R):5'- GCGTGTAGATAGACAGTCCTTACAC -3'

Posted On

2019-11-12