Mutagenetix > Incidental Mutation

Incidental Mutation 'R5122:Acan'

393344

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

042710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5122 (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 78750409 bp (GRCm39)

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
Actr8	A	T	14: 29,704,672 (GRCm39)	K57N	possibly damaging	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Bltp1	A	G	3: 37,088,906 (GRCm39)		probably null	Het
Bmp2k	A	G	5: 97,234,874 (GRCm39)		probably benign	Het
Cd274	A	G	19: 29,357,965 (GRCm39)	H219R	possibly damaging	Het
Cdc16	A	T	8: 13,814,570 (GRCm39)	Y118F	probably damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Chchd3	T	C	6: 32,945,240 (GRCm39)	R89G	probably benign	Het
Clstn2	C	T	9: 97,343,474 (GRCm39)	V658M	probably damaging	Het
Cpt1b	A	G	15: 89,308,226 (GRCm39)	S160P	probably benign	Het
Crym	T	C	7: 119,794,718 (GRCm39)	N167S	probably benign	Het
Dhx16	T	A	17: 36,194,202 (GRCm39)	Y438N	probably damaging	Het
Dnah12	A	G	14: 26,439,155 (GRCm39)	R536G	probably benign	Het
Dnajc11	A	G	4: 152,061,454 (GRCm39)	D382G	possibly damaging	Het
Dync1h1	G	A	12: 110,596,114 (GRCm39)	G1547D	probably damaging	Het
Eml3	T	A	19: 8,915,060 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,816,036 (GRCm39)	P2799S	probably damaging	Het
Ephb6	T	C	6: 41,590,338 (GRCm39)	V30A	probably benign	Het
Fam53b	T	A	7: 132,380,991 (GRCm39)		probably benign	Het
Fcrl1	A	G	3: 87,293,081 (GRCm39)	K246R	probably benign	Het
Focad	G	A	4: 88,325,602 (GRCm39)		probably null	Het
Glipr1l2	T	C	10: 111,942,961 (GRCm39)	I272T	possibly damaging	Het
Gm8104	A	G	14: 42,966,550 (GRCm39)	I101V	probably benign	Het
Grm5	A	G	7: 87,724,028 (GRCm39)	I773V	probably damaging	Het
Hyal1	A	T	9: 107,455,268 (GRCm39)	T193S	probably benign	Het
Igkv10-94	C	A	6: 68,681,655 (GRCm39)	G62*	probably null	Het
Itsn1	A	G	16: 91,690,732 (GRCm39)		probably benign	Het
Kank4	A	G	4: 98,644,804 (GRCm39)	S983P	probably damaging	Het
Krtap16-1	C	A	11: 99,876,523 (GRCm39)	V294F	probably damaging	Het
Lama3	T	G	18: 12,672,823 (GRCm39)	V866G	possibly damaging	Het
Lrba	C	T	3: 86,256,461 (GRCm39)	R1268*	probably null	Het
Lrriq1	C	T	10: 103,023,314 (GRCm39)	V984I	probably damaging	Het
Macf1	A	C	4: 123,346,085 (GRCm39)	V4136G	probably damaging	Het
Mdn1	A	T	4: 32,670,593 (GRCm39)	E419D	probably damaging	Het
Nedd4l	A	G	18: 65,324,518 (GRCm39)	Y473C	probably damaging	Het
Nod2	G	T	8: 89,390,748 (GRCm39)	D330Y	probably damaging	Het
Nt5c2	C	T	19: 46,878,360 (GRCm39)	C458Y	probably damaging	Het
Numa1	T	C	7: 101,662,976 (GRCm39)	I681T	probably damaging	Het
Or10a5	C	A	7: 106,636,055 (GRCm39)	S231*	probably null	Het
Papolg	C	T	11: 23,817,501 (GRCm39)		probably null	Het
Parn	A	G	16: 13,472,311 (GRCm39)		probably null	Het
Pgap2	T	C	7: 101,880,598 (GRCm39)	F42S	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Pofut2	G	C	10: 77,104,399 (GRCm39)	R392P	probably damaging	Het
Prpf18	T	C	2: 4,648,520 (GRCm39)	D102G	probably damaging	Het
Rreb1	T	A	13: 38,114,744 (GRCm39)	I701N	probably benign	Het
Slc26a5	T	C	5: 22,052,194 (GRCm39)	K45R	probably damaging	Het
Slc8a3	A	G	12: 81,361,032 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,198,106 (GRCm39)	M723L	probably benign	Het
Spata31e5	A	G	1: 28,819,141 (GRCm39)	S47P	probably benign	Het
Sra1	T	C	18: 36,800,647 (GRCm39)	T187A	probably benign	Het
Stk17b	A	C	1: 53,815,717 (GRCm39)	N27K	probably damaging	Het
Tbc1d9	T	A	8: 83,963,172 (GRCm39)	Y295N	probably damaging	Het
Tubgcp6	A	G	15: 89,000,306 (GRCm39)	V353A	probably damaging	Het
Unc80	A	T	1: 66,718,749 (GRCm39)	T2991S	possibly damaging	Het
Urb1	G	A	16: 90,548,983 (GRCm39)	R2242*	probably null	Het
Vasp	T	C	7: 18,998,697 (GRCm39)	N20S	probably benign	Het
Zfp263	A	G	16: 3,567,719 (GRCm39)	H390R	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
R2496:Acan	UTSW	7	78,761,065 (GRCm39)	missense	probably damaging	1.00
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
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'- ATCCATAGCTGCCACAACTG -3'
(R):5'- TCCATGGGTTGCTGTTTACC -3'

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

Posted On

2016-06-15