Mutagenetix > Incidental Mutation

Incidental Mutation 'R8131:Acan'

632013

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

067560-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78741086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 484 (P484L)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032835
AA Change: P484L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: P484L

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: 99.9%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

100% (50/50)

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
4930544D05Rik	A	G	11: 70,506,834 (GRCm39)		probably null	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Amotl2	T	A	9: 102,597,615 (GRCm39)	Y125N	probably damaging	Het
Apaf1	C	A	10: 90,913,420 (GRCm39)	V168F	possibly damaging	Het
Arhgap32	C	T	9: 32,158,426 (GRCm39)	H154Y	probably damaging	Het
B4galnt3	A	G	6: 120,271,346 (GRCm39)		probably null	Het
Bahcc1	C	T	11: 120,163,664 (GRCm39)	A654V	probably benign	Het
Bcl11b	T	A	12: 107,931,967 (GRCm39)	M202L	probably benign	Het
Cdc40	C	A	10: 40,717,473 (GRCm39)	R406L	possibly damaging	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Col26a1	T	C	5: 136,775,894 (GRCm39)	D353G	probably benign	Het
Col6a5	T	A	9: 105,778,815 (GRCm39)	Q1682L	unknown	Het
Cul9	C	T	17: 46,822,168 (GRCm39)	G1819D	probably damaging	Het
Cyp2b10	C	T	7: 25,614,242 (GRCm39)	Q239*	probably null	Het
Dthd1	T	A	5: 63,000,259 (GRCm39)	I527N	probably damaging	Het
Dzip3	C	T	16: 48,754,156 (GRCm39)		probably null	Het
Ecm2	A	G	13: 49,671,940 (GRCm39)	E147G	probably benign	Het
Ercc6l2	C	T	13: 63,982,561 (GRCm39)	T132M	probably damaging	Het
Esf1	G	A	2: 139,990,751 (GRCm39)	Q578*	probably null	Het
Gria4	C	T	9: 4,502,429 (GRCm39)	R368H	probably benign	Het
Hps5	T	C	7: 46,421,312 (GRCm39)	D717G	probably benign	Het
Hrh1	A	T	6: 114,457,253 (GRCm39)	D178V	probably benign	Het
Inppl1	T	C	7: 101,479,268 (GRCm39)	N537S	possibly damaging	Het
Itih1	T	C	14: 30,663,521 (GRCm39)	Y165C	probably damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Larp4	T	C	15: 99,892,570 (GRCm39)	V255A	probably damaging	Het
Lrriq1	T	G	10: 103,051,572 (GRCm39)	R393S	possibly damaging	Het
Mep1a	T	A	17: 43,813,558 (GRCm39)	I31L	probably benign	Het
Muc5b	C	T	7: 141,396,146 (GRCm39)	T134I	unknown	Het
Neurl4	T	C	11: 69,800,067 (GRCm39)	Y1052H	probably benign	Het
Nlrc5	C	G	8: 95,208,420 (GRCm39)	N755K	probably damaging	Het
Nrde2	T	C	12: 100,108,502 (GRCm39)	K363R	probably benign	Het
Pcdhb12	T	C	18: 37,570,335 (GRCm39)	S494P	possibly damaging	Het
Pcnx1	C	A	12: 81,965,292 (GRCm39)	S486R	possibly damaging	Het
Pira13	T	A	7: 3,825,161 (GRCm39)	R494*	probably null	Het
Plrg1	T	A	3: 82,977,081 (GRCm39)	V374E	probably damaging	Het
Plxnb2	A	G	15: 89,042,916 (GRCm39)	I1491T	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn4a	T	C	11: 106,232,367 (GRCm39)	E490G	probably benign	Het
Sec16a	A	G	2: 26,300,958 (GRCm39)	V887A		Het
Serpina3a	T	C	12: 104,082,467 (GRCm39)	I80T	probably damaging	Het
Setd1b	A	T	5: 123,281,443 (GRCm39)	I66F	unknown	Het
Slirp	T	A	12: 87,494,428 (GRCm39)		probably null	Het
Socs6	A	C	18: 88,888,169 (GRCm39)	S249A	probably benign	Het
Thoc2l	A	G	5: 104,669,027 (GRCm39)	E1183G	possibly damaging	Het
Ttn	A	T	2: 76,616,077 (GRCm39)	I16622N	probably damaging	Het
Uox	A	T	3: 146,331,589 (GRCm39)	T237S	probably damaging	Het
Vmn2r43	T	A	7: 8,258,326 (GRCm39)	I296L	probably benign	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vps13b	T	C	15: 35,372,255 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,707 (GRCm39)	V962A		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
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
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'- TCACACTTGCCCCTGAAGTG -3'
(R):5'- CTATTCTGGTGGGAGGACAAAGC -3'

Sequencing Primer
(F):5'- AAGTGGGGAGCACAGCCTTC -3'
(R):5'- AAGGCCATGGGGTCACC -3'

Posted On

2020-06-30