Mutagenetix > Incidental Mutation

Incidental Mutation 'R2496:Acan'

251186

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

040410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78761065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1926 (W1926R)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032835] [ENSMUST00000205782] [ENSMUST00000206092]

AlphaFold

Q61282

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: W1926R

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

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: W1926R

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: ENSMUST00000205782

Predicted Effect

probably benign
Transcript: ENSMUST00000206092

Predicted Effect

unknown
Transcript: ENSMUST00000206779
AA Change: W541R

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef25	T	C	10: 127,023,063 (GRCm39)	T106A	probably benign	Het
Baz1b	G	A	5: 135,239,629 (GRCm39)	R243Q	probably damaging	Het
Cdhr3	A	G	12: 33,099,068 (GRCm39)	Y508H	probably benign	Het
Cyp2d9	T	A	15: 82,336,680 (GRCm39)	W10R	probably damaging	Het
Dmxl1	A	G	18: 50,013,858 (GRCm39)	T1549A	possibly damaging	Het
Dnah8	A	T	17: 31,070,705 (GRCm39)	R4464W	probably damaging	Het
Dpp4	G	A	2: 62,217,477 (GRCm39)	T40M	possibly damaging	Het
Dync1h1	A	G	12: 110,607,654 (GRCm39)	H2723R	possibly damaging	Het
E2f3	C	T	13: 30,095,289 (GRCm39)	S333N	probably damaging	Het
Fam120a	G	T	13: 49,121,069 (GRCm39)	A79E	probably damaging	Het
Fat3	A	G	9: 15,877,399 (GRCm39)	S3405P	probably benign	Het
Gaa	T	C	11: 119,174,531 (GRCm39)	S793P	possibly damaging	Het
Galc	A	C	12: 98,193,540 (GRCm39)	F350V	probably damaging	Het
Garre1	A	G	7: 33,955,916 (GRCm39)	V391A	possibly damaging	Het
Gm136	A	G	4: 34,746,541 (GRCm39)	C157R	probably damaging	Het
Gm3327	A	C	14: 44,363,720 (GRCm39)	N108T	unknown	Het
H2-M10.2	A	G	17: 36,596,771 (GRCm39)	Y102H	possibly damaging	Het
Hmcn1	A	T	1: 150,490,972 (GRCm39)	D4192E	probably benign	Het
Hpse2	A	C	19: 43,001,482 (GRCm39)		probably null	Het
Idh3a	T	C	9: 54,510,633 (GRCm39)	V362A	probably benign	Het
Kdm7a	A	T	6: 39,147,697 (GRCm39)		probably null	Het
Krt6b	A	G	15: 101,588,216 (GRCm39)	V148A	probably damaging	Het
Lrba	G	A	3: 86,439,394 (GRCm39)	R1977H	probably damaging	Het
Magi2	A	T	5: 19,883,750 (GRCm39)	Y134F	probably benign	Het
Mamdc4	T	C	2: 25,455,914 (GRCm39)	Y801C	probably damaging	Het
Maml1	T	C	11: 50,149,371 (GRCm39)	T790A	probably benign	Het
Map3k19	A	G	1: 127,750,823 (GRCm39)	Y843H	probably damaging	Het
Mdfic	A	T	6: 15,741,041 (GRCm39)	H45L	possibly damaging	Het
Mlx	C	T	11: 100,979,080 (GRCm39)	T87I	probably benign	Het
Mms22l	T	A	4: 24,521,269 (GRCm39)	I382K	probably benign	Het
Mtf1	A	G	4: 124,732,697 (GRCm39)	N585S	probably benign	Het
Mylk2	C	T	2: 152,755,588 (GRCm39)	P251S	probably damaging	Het
Myorg	A	G	4: 41,499,165 (GRCm39)	V155A	probably benign	Het
Nox4	A	T	7: 86,955,958 (GRCm39)	T157S	probably benign	Het
Oas2	A	T	5: 120,886,682 (GRCm39)	H161Q	probably benign	Het
Obscn	A	T	11: 58,994,268 (GRCm39)	V1563E	probably damaging	Het
Or2n1b	T	C	17: 38,460,322 (GRCm39)	V281A	possibly damaging	Het
Or55b3	T	C	7: 102,126,354 (GRCm39)	K241R	probably damaging	Het
Or6c203	A	C	10: 129,009,966 (GRCm39)	F308C	probably benign	Het
Pcdhb11	T	A	18: 37,555,375 (GRCm39)	I235N	probably benign	Het
Pcsk5	A	T	19: 17,443,522 (GRCm39)	C1212*	probably null	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rsph4a	A	T	10: 33,784,094 (GRCm39)	I239L	possibly damaging	Het
Setx	A	G	2: 29,034,813 (GRCm39)	I433V	probably benign	Het
Smyd4	T	C	11: 75,281,927 (GRCm39)	S467P	probably benign	Het
Snai2	A	T	16: 14,523,866 (GRCm39)	H10L	possibly damaging	Het
Snw1	T	C	12: 87,497,589 (GRCm39)	I467V	probably benign	Het
Stab1	A	T	14: 30,883,420 (GRCm39)	C301S	probably damaging	Het
Tax1bp1	T	A	6: 52,735,342 (GRCm39)		probably null	Het
Tmem70	C	A	1: 16,735,575 (GRCm39)	P15Q	probably benign	Het
Tmem87a	T	C	2: 120,224,859 (GRCm39)	E134G	probably damaging	Het
Ubr4	C	T	4: 139,200,516 (GRCm39)		probably benign	Het
Ugt2b37	C	T	5: 87,402,569 (GRCm39)	V21M	probably damaging	Het
Ugt2b38	T	A	5: 87,569,551 (GRCm39)	I259F	probably damaging	Het
Zfp804a	T	A	2: 82,066,188 (GRCm39)	L53Q	probably damaging	Het

Other mutations in Acan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Acan	APN	7	78,747,572 (GRCm39)	missense	probably benign	0.00
IGL01118:Acan	APN	7	78,748,401 (GRCm39)	missense	possibly damaging	0.78
IGL01145:Acan	APN	7	78,749,030 (GRCm39)	missense	probably damaging	1.00
IGL01308:Acan	APN	7	78,748,997 (GRCm39)	missense	probably damaging	0.98
IGL01520:Acan	APN	7	78,734,318 (GRCm39)	missense	probably damaging	0.96
IGL02069:Acan	APN	7	78,742,500 (GRCm39)	missense	possibly damaging	0.83
IGL02629:Acan	APN	7	78,761,727 (GRCm39)	missense	possibly damaging	0.90
IGL02713:Acan	APN	7	78,749,992 (GRCm39)	missense	possibly damaging	0.90
IGL03001:Acan	APN	7	78,761,042 (GRCm39)	missense	probably damaging	0.99
IGL03081:Acan	APN	7	78,748,291 (GRCm39)	missense	probably benign	0.01
Disproportion	UTSW	7	78,742,066 (GRCm39)	missense	probably damaging	0.98
Hollowleg	UTSW	7	78,748,096 (GRCm39)	nonsense	probably null
Sublimate	UTSW	7	78,761,068 (GRCm39)	missense	probably damaging	0.97
Vacuo	UTSW	7	78,738,055 (GRCm39)	critical splice donor site	probably null
IGL03147:Acan	UTSW	7	78,740,804 (GRCm39)	missense	probably damaging	1.00
R0281:Acan	UTSW	7	78,750,033 (GRCm39)	missense	probably damaging	1.00
R0372:Acan	UTSW	7	78,750,349 (GRCm39)	missense	probably benign	0.00
R0599:Acan	UTSW	7	78,761,038 (GRCm39)	splice site	probably benign
R0827:Acan	UTSW	7	78,749,419 (GRCm39)	missense	probably benign	0.00
R0835:Acan	UTSW	7	78,763,980 (GRCm39)	missense	probably damaging	0.96
R1496:Acan	UTSW	7	78,750,552 (GRCm39)	missense	probably benign	0.06
R1716:Acan	UTSW	7	78,731,946 (GRCm39)	missense	unknown
R1761:Acan	UTSW	7	78,743,833 (GRCm39)	nonsense	probably null
R1848:Acan	UTSW	7	78,748,783 (GRCm39)	missense	probably benign
R2002:Acan	UTSW	7	78,750,541 (GRCm39)	missense	probably damaging	1.00
R2025:Acan	UTSW	7	78,750,970 (GRCm39)	missense	probably benign
R2167:Acan	UTSW	7	78,749,705 (GRCm39)	missense	probably benign	0.41
R2189:Acan	UTSW	7	78,747,839 (GRCm39)	missense	probably damaging	1.00
R2303:Acan	UTSW	7	78,749,705 (GRCm39)	missense	probably benign	0.41
R2971:Acan	UTSW	7	78,749,447 (GRCm39)	missense	possibly damaging	0.46
R4004:Acan	UTSW	7	78,750,435 (GRCm39)	missense	probably damaging	1.00
R4669:Acan	UTSW	7	78,750,890 (GRCm39)	missense	probably benign	0.01
R4732:Acan	UTSW	7	78,748,357 (GRCm39)	missense	probably damaging	0.99
R4733:Acan	UTSW	7	78,748,357 (GRCm39)	missense	probably damaging	0.99
R4742:Acan	UTSW	7	78,750,517 (GRCm39)	missense	probably benign	0.41
R4750:Acan	UTSW	7	78,742,466 (GRCm39)	missense	probably damaging	1.00
R5022:Acan	UTSW	7	78,742,556 (GRCm39)	critical splice donor site	probably null
R5122:Acan	UTSW	7	78,750,409 (GRCm39)	missense	probably damaging	0.99
R5190:Acan	UTSW	7	78,748,289 (GRCm39)	missense	probably benign	0.03
R5220:Acan	UTSW	7	78,738,045 (GRCm39)	missense	probably damaging	0.96
R5414:Acan	UTSW	7	78,750,736 (GRCm39)	missense	probably benign	0.00
R5525:Acan	UTSW	7	78,749,731 (GRCm39)	missense	probably benign
R5655:Acan	UTSW	7	78,749,791 (GRCm39)	missense	possibly damaging	0.89
R5662:Acan	UTSW	7	78,749,855 (GRCm39)	missense	possibly damaging	0.78
R5748:Acan	UTSW	7	78,739,447 (GRCm39)	missense	probably damaging	0.98
R5758:Acan	UTSW	7	78,750,962 (GRCm39)	missense	possibly damaging	0.67
R5996:Acan	UTSW	7	78,761,068 (GRCm39)	missense	probably damaging	0.97
R6057:Acan	UTSW	7	78,749,530 (GRCm39)	missense	probably null
R6503:Acan	UTSW	7	78,747,580 (GRCm39)	missense	probably benign	0.04
R6529:Acan	UTSW	7	78,739,479 (GRCm39)	missense	probably benign	0.16
R6887:Acan	UTSW	7	78,742,231 (GRCm39)	missense	probably damaging	1.00
R7041:Acan	UTSW	7	78,748,096 (GRCm39)	nonsense	probably null
R7193:Acan	UTSW	7	78,736,090 (GRCm39)	missense	probably damaging	1.00
R7220:Acan	UTSW	7	78,757,896 (GRCm39)	missense
R7263:Acan	UTSW	7	78,742,066 (GRCm39)	missense	probably damaging	0.98
R7376:Acan	UTSW	7	78,738,055 (GRCm39)	critical splice donor site	probably null
R7502:Acan	UTSW	7	78,743,951 (GRCm39)	missense	probably damaging	1.00
R7571:Acan	UTSW	7	78,736,015 (GRCm39)	missense	probably damaging	1.00
R7709:Acan	UTSW	7	78,739,356 (GRCm39)	missense	probably damaging	1.00
R7835:Acan	UTSW	7	78,749,623 (GRCm39)	missense	probably benign	0.08
R8051:Acan	UTSW	7	78,750,527 (GRCm39)	missense	probably damaging	0.96
R8131:Acan	UTSW	7	78,741,086 (GRCm39)	missense	possibly damaging	0.92
R8138:Acan	UTSW	7	78,748,175 (GRCm39)	missense	probably benign	0.12
R8324:Acan	UTSW	7	78,740,804 (GRCm39)	missense	probably damaging	1.00
R8482:Acan	UTSW	7	78,746,492 (GRCm39)	missense	probably benign	0.02
R8511:Acan	UTSW	7	78,747,683 (GRCm39)	missense	possibly damaging	0.94
R8716:Acan	UTSW	7	78,762,438 (GRCm39)	missense	probably damaging	1.00
R8753:Acan	UTSW	7	78,748,516 (GRCm39)	missense	possibly damaging	0.83
R8810:Acan	UTSW	7	78,749,452 (GRCm39)	missense	probably damaging	1.00
R8898:Acan	UTSW	7	78,750,101 (GRCm39)	missense	possibly damaging	0.59
R8956:Acan	UTSW	7	78,750,713 (GRCm39)	missense	probably benign	0.00
R9199:Acan	UTSW	7	78,736,057 (GRCm39)	missense	probably damaging	1.00
R9509:Acan	UTSW	7	78,740,768 (GRCm39)	missense	probably damaging	0.96
R9549:Acan	UTSW	7	78,742,076 (GRCm39)	missense	probably damaging	1.00
R9572:Acan	UTSW	7	78,748,477 (GRCm39)	missense	probably damaging	0.99
R9645:Acan	UTSW	7	78,749,653 (GRCm39)	missense	probably benign	0.00
R9742:Acan	UTSW	7	78,749,115 (GRCm39)	missense	probably benign	0.00
RF008:Acan	UTSW	7	78,742,148 (GRCm39)	missense	possibly damaging	0.83
Z1088:Acan	UTSW	7	78,761,102 (GRCm39)	missense	probably benign
Z1088:Acan	UTSW	7	78,749,858 (GRCm39)	missense	probably benign	0.41
Z1088:Acan	UTSW	7	78,737,948 (GRCm39)	nonsense	probably null
Z1176:Acan	UTSW	7	78,761,102 (GRCm39)	missense	probably benign
Z1177:Acan	UTSW	7	78,761,102 (GRCm39)	missense	probably benign
Z1177:Acan	UTSW	7	78,749,885 (GRCm39)	missense	probably damaging	0.99
Z1177:Acan	UTSW	7	78,743,918 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACCAGGACACAGCATTTAAGG -3'
(R):5'- TCTGCCCACTGAGCTACAAC -3'

Sequencing Primer
(F):5'- GACACAGCATTTAAGGTGGATTAAAC -3'
(R):5'- GCTCATTTCTGACCAGCAAGG -3'

Posted On

2014-12-04