Mutagenetix > Incidental Mutation

Incidental Mutation 'R9572:Acan'

722053

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9572 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78748477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1083 (S1083P)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: S1083P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: S1083P

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: ENSMUST00000206779

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh6a1	C	A	12: 84,487,017 (GRCm39)	R140L	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Anapc1	G	T	2: 128,505,976 (GRCm39)	T620K	probably benign	Het
Ano1	T	A	7: 144,204,293 (GRCm39)		probably null	Het
Apol9a	C	T	15: 77,288,804 (GRCm39)	A188T	probably benign	Het
Ash1l	A	G	3: 88,960,188 (GRCm39)	K2307E	probably damaging	Het
Astn2	A	T	4: 65,299,872 (GRCm39)	S1292R	unknown	Het
Asxl3	T	A	18: 22,649,112 (GRCm39)	V367D	probably benign	Het
B3gnt7	T	A	1: 86,233,492 (GRCm39)	L246Q	probably damaging	Het
B4gat1	T	G	19: 5,089,474 (GRCm39)	L157R	probably damaging	Het
Bag4	A	T	8: 26,258,303 (GRCm39)	Y341*	probably null	Het
Bccip	G	A	7: 133,322,478 (GRCm39)	D275N	probably damaging	Het
Cd109	T	A	9: 78,567,588 (GRCm39)	F267I	probably benign	Het
Cfap221	T	A	1: 119,873,566 (GRCm39)	D487V	probably damaging	Het
Chpt1	T	C	10: 88,316,806 (GRCm39)	I217M	probably damaging	Het
Clock	T	C	5: 76,377,338 (GRCm39)	T654A	probably benign	Het
Ctsr	A	G	13: 61,310,978 (GRCm39)	S23P	probably benign	Het
Dst	T	A	1: 34,250,252 (GRCm39)	Y2055N	probably damaging	Het
F7	A	T	8: 13,083,953 (GRCm39)	I213F	probably benign	Het
Grb14	A	G	2: 64,763,680 (GRCm39)	Y232H	probably damaging	Het
Gsg1l2	A	G	11: 67,677,301 (GRCm39)	N190S	probably benign	Het
Hrnr	A	G	3: 93,239,467 (GRCm39)	Y3235C	unknown	Het
Iws1	T	A	18: 32,203,257 (GRCm39)	S44R	probably damaging	Het
Kif26b	A	T	1: 178,745,042 (GRCm39)	T1713S	probably benign	Het
Lama4	C	T	10: 38,959,271 (GRCm39)	R1230C	probably damaging	Het
Lrrcc1	G	A	3: 14,601,148 (GRCm39)	W60*	probably null	Het
Mcur1	A	G	13: 43,713,433 (GRCm39)	F57S	probably benign	Het
Mrc1	T	C	2: 14,234,334 (GRCm39)	L4P	probably benign	Het
Msh5	T	C	17: 35,250,369 (GRCm39)	Y548C	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nckap5	T	A	1: 125,955,454 (GRCm39)	N366I	probably benign	Het
Nr4a3	T	A	4: 48,051,258 (GRCm39)	V4E	probably damaging	Het
Nuak1	C	A	10: 84,228,179 (GRCm39)	V175L	probably damaging	Het
Or2ag13	A	G	7: 106,313,546 (GRCm39)	L114P	probably damaging	Het
Or5b106	T	A	19: 13,123,928 (GRCm39)	I32F	possibly damaging	Het
Or5w1	A	G	2: 87,486,914 (GRCm39)	V117A	probably benign	Het
Or8b49	A	T	9: 38,505,627 (GRCm39)	I37L	probably benign	Het
Phactr2	C	T	10: 13,264,561 (GRCm39)		probably benign	Het
Pomk	T	C	8: 26,472,936 (GRCm39)	D339G	possibly damaging	Het
Ppp2r5e	A	T	12: 75,562,468 (GRCm39)	Y88N	probably benign	Het
Ptma	T	A	1: 86,457,697 (GRCm39)	V100E	unknown	Het
Rab3b	T	C	4: 108,786,725 (GRCm39)		probably null	Het
Rp1	G	A	1: 4,418,662 (GRCm39)	H817Y	probably benign	Het
Rpn1	T	A	6: 88,078,994 (GRCm39)	I479N	probably damaging	Het
Sdk1	G	A	5: 141,595,784 (GRCm39)	G147R	probably damaging	Het
Serpina3i	C	A	12: 104,234,743 (GRCm39)	T358K	probably damaging	Het
Siglecf	A	G	7: 43,002,058 (GRCm39)	K231R	possibly damaging	Het
Skint6	C	T	4: 112,985,128 (GRCm39)	V413I	probably benign	Het
Spata7	T	C	12: 98,614,655 (GRCm39)	C96R	probably damaging	Het
Sptbn4	A	T	7: 27,066,095 (GRCm39)	V1991E	probably benign	Het
Sstr2	A	G	11: 113,516,017 (GRCm39)	Y312C	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tcerg1l	C	T	7: 137,881,787 (GRCm39)	A301T	probably benign	Het
Tmub2	T	A	11: 102,176,541 (GRCm39)	M11K		Het
Trpc6	T	A	9: 8,656,622 (GRCm39)	V761D	possibly damaging	Het
Ttll13	A	T	7: 79,908,008 (GRCm39)	N510I	probably benign	Het
Vcpip1	T	C	1: 9,816,770 (GRCm39)	N538D	possibly damaging	Het
Vmn2r100	A	T	17: 19,741,513 (GRCm39)	Y75F	probably benign	Het
Vwa5a	A	G	9: 38,649,239 (GRCm39)	I662M	probably benign	Het
Xkr5	A	G	8: 18,984,166 (GRCm39)	S459P	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	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
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
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'- TTGAGTGGACTTCCCTCAGG -3'
(R):5'- GGCAGAAGTTTCTAGACCCTC -3'

Sequencing Primer
(F):5'- CTTCAGGTGCAGAGGATGTCACTC -3'
(R):5'- TAGACCCTCTCCTCCAGATGGAAG -3'

Posted On

2022-08-09