Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Acan'

444130

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

043305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78749855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1542 (V1542D)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032835
AA Change: V1542D

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: V1542D

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: V119D

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	G	7: 119,294,023 (GRCm39)	N131K	possibly damaging	Het
Ankrd54	A	G	15: 78,946,814 (GRCm39)	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,781,920 (GRCm39)	I753T	probably benign	Het
Cers2	C	T	3: 95,228,295 (GRCm39)	R112C	probably damaging	Het
Col6a4	C	G	9: 105,945,200 (GRCm39)	R971S	probably damaging	Het
Ctsf	T	C	19: 4,906,606 (GRCm39)	S178P	probably damaging	Het
Dennd4c	C	T	4: 86,713,525 (GRCm39)	T492I	probably benign	Het
Dhx8	A	G	11: 101,657,584 (GRCm39)	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,956,307 (GRCm39)	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,370,457 (GRCm39)	I886F	probably damaging	Het
Eprs1	T	G	1: 185,126,622 (GRCm39)	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,061 (GRCm39)		probably benign	Het
Galnt17	G	A	5: 131,114,844 (GRCm39)	R219C	probably damaging	Het
Gm10645	A	G	8: 83,892,486 (GRCm39)		probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Hydin	T	G	8: 111,307,341 (GRCm39)	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,019,027 (GRCm39)	V56E	probably damaging	Het
Igtp	A	G	11: 58,097,105 (GRCm39)	D92G	probably damaging	Het
Itga1	C	T	13: 115,122,707 (GRCm39)	V750I	probably benign	Het
Katnip	A	G	7: 125,441,875 (GRCm39)	R595G	probably benign	Het
Kif3c	T	A	12: 3,417,031 (GRCm39)	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,329,939 (GRCm39)	I356N	probably benign	Het
Lrrc34	T	C	3: 30,685,473 (GRCm39)	Y292C	probably benign	Het
Ly75	G	A	2: 60,182,725 (GRCm39)	T526M	probably damaging	Het
Mroh4	A	T	15: 74,497,277 (GRCm39)	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,079,645 (GRCm39)	N757D	probably benign	Het
Or1e25	T	C	11: 73,494,005 (GRCm39)	F200L	probably benign	Het
Or1m1	A	G	9: 18,666,896 (GRCm39)	F12L	probably damaging	Het
Or6c215	T	C	10: 129,638,176 (GRCm39)	T73A	possibly damaging	Het
Or9s18	T	C	13: 65,300,067 (GRCm39)	F10L	possibly damaging	Het
Paxbp1	G	A	16: 90,834,285 (GRCm39)	T167M	probably benign	Het
Pnpla7	A	G	2: 24,942,396 (GRCm39)	D1238G	probably damaging	Het
Pom121l2	T	C	13: 22,166,358 (GRCm39)	S210P	probably benign	Het
Ripor3	T	G	2: 167,835,476 (GRCm39)	N165T	probably benign	Het
Serpine3	T	G	14: 62,908,291 (GRCm39)	S106R	probably benign	Het
Slc25a11	G	A	11: 70,536,245 (GRCm39)	R158*	probably null	Het
Slc26a6	G	A	9: 108,736,538 (GRCm39)	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,169 (GRCm39)	K304E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,740,404 (GRCm39)	N267S	possibly damaging	Het
Spink6	C	A	18: 44,207,481 (GRCm39)	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,079,204 (GRCm39)	S811P	probably benign	Het
Ssc4d	A	G	5: 135,989,748 (GRCm39)	*587R	probably null	Het
Sult2a8	C	T	7: 14,161,765 (GRCm39)	R27H	probably benign	Het
Sun2	C	T	15: 79,623,069 (GRCm39)	A90T	probably benign	Het
Ubr7	T	C	12: 102,734,526 (GRCm39)	S267P	probably benign	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Xdh	C	T	17: 74,248,110 (GRCm39)	G45S	probably damaging	Het
Zfp638	T	A	6: 83,920,111 (GRCm39)	S570T	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
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
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'- GTGGACACCAGTTTTGTTGAAG -3'
(R):5'- CTGAATTCCAAAATGCCCGAAG -3'

Sequencing Primer
(F):5'- GACACCAGTTTTGTTGAAGTGACCC -3'
(R):5'- GAAGGTCCTTCTCCAGCTTCTTGAG -3'

Posted On

2016-11-09