Incidental Mutation 'R8810:Acan'
ID 672342
Institutional Source Beutler Lab
Gene Symbol Acan
Ensembl Gene ENSMUSG00000030607
Gene Name aggrecan
Synonyms Agc1, Cspg1, b2b183Clo
MMRRC Submission 068725-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8810 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 78703231-78764847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78749452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1408 (S1408P)
Ref Sequence ENSEMBL: ENSMUSP00000032835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032835]
AlphaFold Q61282
Predicted Effect probably damaging
Transcript: ENSMUST00000032835
AA Change: S1408P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: S1408P

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 99% (82/83)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T C 4: 155,990,169 (GRCm39) V783A probably damaging Het
Akap8 T C 17: 32,525,504 (GRCm39) N525S probably damaging Het
Aqp1 C T 6: 55,313,606 (GRCm39) T44M probably damaging Het
Arap1 T C 7: 101,053,585 (GRCm39) Y1305H probably damaging Het
Atg2a T G 19: 6,300,651 (GRCm39) S743A probably benign Het
AW551984 G T 9: 39,511,307 (GRCm39) L133I probably damaging Het
Bahcc1 C A 11: 120,164,587 (GRCm39) P802T possibly damaging Het
Brd8 C A 18: 34,743,002 (GRCm39) V288L probably benign Het
Carmil2 T C 8: 106,412,947 (GRCm39) probably null Het
Catspere2 G A 1: 177,905,048 (GRCm39) E153K possibly damaging Het
Ccdc162 C T 10: 41,542,737 (GRCm39) R379Q probably benign Het
Cd200l1 T C 16: 45,264,199 (GRCm39) T120A probably benign Het
Cdh16 A G 8: 105,341,136 (GRCm39) L116P probably damaging Het
Cenpj A T 14: 56,796,076 (GRCm39) H260Q possibly damaging Het
Cenpq A G 17: 41,244,027 (GRCm39) V17A possibly damaging Het
Cep350 T C 1: 155,803,862 (GRCm39) K1074E probably damaging Het
Chil4 C A 3: 106,109,121 (GRCm39) C394F probably damaging Het
Chst9 T C 18: 15,850,983 (GRCm39) I28V probably benign Het
Clasp2 C A 9: 113,728,649 (GRCm39) N873K probably damaging Het
Clec4b2 T A 6: 123,158,269 (GRCm39) M45K probably benign Het
Cmya5 T A 13: 93,200,048 (GRCm39) T3427S possibly damaging Het
Cnih4 A G 1: 180,989,777 (GRCm39) Y130C probably damaging Het
Cpne9 T A 6: 113,281,506 (GRCm39) M529K probably damaging Het
Crppa A T 12: 36,440,481 (GRCm39) N130Y probably damaging Het
Ctsr T A 13: 61,309,639 (GRCm39) Y190F probably damaging Het
Cyp2j13 G A 4: 95,945,153 (GRCm39) H351Y probably benign Het
Dixdc1 T A 9: 50,613,265 (GRCm39) Q230L probably damaging Het
Dpep1 A T 8: 123,926,764 (GRCm39) I226F probably benign Het
Efcab3 A T 11: 104,805,721 (GRCm39) N3076I unknown Het
Ehd2 A G 7: 15,691,603 (GRCm39) V243A probably benign Het
Etnk2 T A 1: 133,306,232 (GRCm39) Y353N probably benign Het
Fgg G T 3: 82,920,322 (GRCm39) G367V probably damaging Het
Gm9772 T C 17: 22,225,310 (GRCm39) *61Q probably null Het
Grk5 T G 19: 61,078,432 (GRCm39) D496E possibly damaging Het
Hc T C 2: 34,909,535 (GRCm39) N915S probably benign Het
Iah1 G T 12: 21,367,388 (GRCm39) Q31H probably benign Het
Insr T C 8: 3,219,714 (GRCm39) D936G probably benign Het
Ints6 A C 14: 62,939,902 (GRCm39) V596G probably benign Het
Kcnj16 A G 11: 110,915,677 (GRCm39) D113G possibly damaging Het
Kdm4b A T 17: 56,706,771 (GRCm39) I928F probably damaging Het
Lrrc41 C T 4: 115,932,488 (GRCm39) probably benign Het
Lrrc8e G A 8: 4,285,070 (GRCm39) V432I probably benign Het
Mamdc4 T C 2: 25,458,501 (GRCm39) E336G probably benign Het
Maml2 C A 9: 13,532,918 (GRCm39) Q711K Het
Map3k14 T C 11: 103,118,498 (GRCm39) T563A possibly damaging Het
Mcu T A 10: 59,303,535 (GRCm39) K101* probably null Het
Mettl22 T A 16: 8,303,792 (GRCm39) V286E probably damaging Het
Mon2 A T 10: 122,845,516 (GRCm39) N1396K possibly damaging Het
Mprip T C 11: 59,587,851 (GRCm39) probably benign Het
Mrpl51 C T 6: 125,170,344 (GRCm39) L117F probably damaging Het
Myo1d C A 11: 80,565,758 (GRCm39) V356F probably damaging Het
Myo1d T A 11: 80,567,758 (GRCm39) I241F probably benign Het
Naalad2 A T 9: 18,297,230 (GRCm39) probably benign Het
Nacad T C 11: 6,552,853 (GRCm39) T113A probably benign Het
Nrap T A 19: 56,352,843 (GRCm39) probably benign Het
Or10b1 G A 10: 78,356,284 (GRCm39) V281M possibly damaging Het
Or2z2 T C 11: 58,345,936 (GRCm39) T280A possibly damaging Het
Or56b2 T A 7: 104,337,387 (GRCm39) I55N probably damaging Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or5w1 T C 2: 87,486,591 (GRCm39) I225V possibly damaging Het
Or6z3 T C 7: 6,463,763 (GRCm39) L85P probably damaging Het
Osbpl3 T C 6: 50,328,852 (GRCm39) D117G probably damaging Het
Parp9 C T 16: 35,773,981 (GRCm39) R318* probably null Het
Pcdhb18 A G 18: 37,623,374 (GRCm39) I235V probably benign Het
Pex16 T G 2: 92,209,366 (GRCm39) probably benign Het
Piezo2 T A 18: 63,248,034 (GRCm39) M489L probably benign Het
Pmepa1 C A 2: 173,069,628 (GRCm39) G271V probably damaging Het
Safb A G 17: 56,910,579 (GRCm39) E659G unknown Het
Scn9a T C 2: 66,332,010 (GRCm39) T1289A probably damaging Het
Secisbp2l T C 2: 125,617,596 (GRCm39) D27G possibly damaging Het
Serpina1f A G 12: 103,660,240 (GRCm39) V14A probably benign Het
Serpinb9b C A 13: 33,213,452 (GRCm39) T3N possibly damaging Het
Sfxn5 C T 6: 85,206,182 (GRCm39) M315I probably benign Het
Slc9b2 A G 3: 135,035,530 (GRCm39) D333G probably benign Het
Sostdc1 A G 12: 36,367,229 (GRCm39) N135S possibly damaging Het
Spg11 T G 2: 121,901,425 (GRCm39) D1505A probably damaging Het
Spmip8 A T 8: 96,047,883 (GRCm39) probably benign Het
Taar7a T C 10: 23,869,279 (GRCm39) N34S probably benign Het
Tcerg1l C A 7: 137,811,526 (GRCm39) R556L possibly damaging Het
Tcp11l1 T C 2: 104,518,763 (GRCm39) K311R probably benign Het
Trbv16 T G 6: 41,128,972 (GRCm39) F52C probably damaging Het
Ttn T A 2: 76,726,016 (GRCm39) R6073S unknown Het
Uba1y T C Y: 828,818 (GRCm39) I542T possibly damaging Het
Vmn1r214 T C 13: 23,219,082 (GRCm39) I192T probably benign Het
Vmn2r67 C T 7: 84,786,346 (GRCm39) C553Y probably damaging Het
Zdhhc17 G T 10: 110,784,121 (GRCm39) H452N possibly damaging Het
Other mutations in Acan
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGCCAAGCATCTGGATCTC -3'
(R):5'- TGTAATGCCAGAAGACTCTCCAC -3'

Sequencing Primer
(F):5'- TCTCCTGATAGCAGTGGAGAAACATC -3'
(R):5'- GAAGACTCTCCACTGCCACTTATG -3'
Posted On 2021-04-30