Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Acan'

235546

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

040170-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78749705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1492 (E1492G)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: E1492G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E1492G

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: E69G

Meta Mutation Damage Score

0.0935

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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
Abca13	C	T	11: 9,238,532 (GRCm39)	T710M	probably benign	Het
Acsl1	A	G	8: 46,986,627 (GRCm39)	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,217,983 (GRCm39)	T207K	probably benign	Het
Ahnak	A	T	19: 8,988,858 (GRCm39)	K3381*	probably null	Het
Art1	T	C	7: 101,756,031 (GRCm39)	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,799,012 (GRCm39)	W270R	probably benign	Het
Calm2	T	C	17: 87,742,573 (GRCm39)	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,831,452 (GRCm39)	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249 (GRCm39)	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,367,707 (GRCm39)	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,320,509 (GRCm39)	T768A	probably damaging	Het
Cog5	T	C	12: 31,887,288 (GRCm39)	F470L	probably damaging	Het
Cpne5	T	C	17: 29,381,306 (GRCm39)	D374G	probably damaging	Het
Disp2	A	C	2: 118,622,166 (GRCm39)	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,573,344 (GRCm39)		probably benign	Het
Eif2b3	T	A	4: 116,885,737 (GRCm39)	I93N	probably damaging	Het
Elfn2	C	A	15: 78,556,646 (GRCm39)	V634L	probably benign	Het
Fasl	T	G	1: 161,614,707 (GRCm39)	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,901 (GRCm39)	P701A	probably damaging	Het
Helz	T	A	11: 107,563,790 (GRCm39)		probably benign	Het
Kctd6	T	C	14: 8,222,683 (GRCm38)	V175A	probably benign	Het
Leo1	A	G	9: 75,352,991 (GRCm39)	N178S	probably benign	Het
Lhx6	C	A	2: 35,993,371 (GRCm39)	R80L	probably damaging	Het
Man1a2	A	G	3: 100,499,216 (GRCm39)	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,487,494 (GRCm39)	F231L	probably damaging	Het
Mknk2	A	G	10: 80,504,535 (GRCm39)	Y256H	probably damaging	Het
Msh6	A	G	17: 88,296,911 (GRCm39)	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,467,376 (GRCm39)	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,479,781 (GRCm39)	Q66K	probably benign	Het
Nsd2	T	A	5: 34,040,263 (GRCm39)	H933Q	probably damaging	Het
Or10h5	T	A	17: 33,434,542 (GRCm39)	I262F	probably damaging	Het
Or13p3	T	C	4: 118,567,252 (GRCm39)	V216A	probably benign	Het
Or2d3c	A	G	7: 106,525,797 (GRCm39)	Y290H	probably damaging	Het
Or5h23	T	A	16: 58,905,949 (GRCm39)	K299I	probably benign	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rassf6	C	T	5: 90,751,797 (GRCm39)	E308K	probably damaging	Het
Rb1	T	C	14: 73,449,091 (GRCm39)	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,113,852 (GRCm39)	I104F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnase6	A	C	14: 51,367,974 (GRCm39)	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,531,792 (GRCm39)	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,015,601 (GRCm39)	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,398,817 (GRCm39)	Y261*	probably null	Het
Supt6	G	A	11: 78,098,993 (GRCm39)	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,233,771 (GRCm39)		probably benign	Het
Telo2	A	G	17: 25,329,792 (GRCm39)	V240A	probably benign	Het
Trhr	C	T	15: 44,092,638 (GRCm39)	L292F	probably damaging	Het
Trps1	G	A	15: 50,695,126 (GRCm39)	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429 (GRCm38)		probably benign	Het
Yeats2	T	C	16: 20,032,151 (GRCm39)		probably benign	Het
Zbtb39	G	A	10: 127,578,844 (GRCm39)	E473K	probably benign	Het
Zfp235	T	A	7: 23,840,387 (GRCm39)	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,056,063 (GRCm39)	P141Q	possibly 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
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
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'- ATTTCTGATCTCAGTGGGCAGC -3'
(R):5'- ACTGCCATCAAATGCTCCTG -3'

Sequencing Primer
(F):5'- TCAGTGGGCAGCCCTCAG -3'
(R):5'- ATCAAATGCTCCTGAGGGC -3'

Posted On

2014-10-01