Incidental Mutation 'R0599:Acan'
ID 55218
Institutional Source Beutler Lab
Gene Symbol Acan
Ensembl Gene ENSMUSG00000030607
Gene Name aggrecan
Synonyms Agc1, Cspg1, b2b183Clo
MMRRC Submission 038788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0599 (G1)
Quality Score 224
Status Validated
Chromosome 7
Chromosomal Location 78703231-78764847 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 78761038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032835] [ENSMUST00000205782] [ENSMUST00000206092]
AlphaFold Q61282
Predicted Effect probably benign
Transcript: ENSMUST00000032835
SMART Domains Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607

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: ENSMUST00000205782
Predicted Effect probably benign
Transcript: ENSMUST00000206092
Predicted Effect probably benign
Transcript: ENSMUST00000206779
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,529,208 (GRCm39) L978P probably damaging Het
Abcb1a C T 5: 8,748,539 (GRCm39) T290M probably benign Het
Abcd3 A T 3: 121,558,742 (GRCm39) F585I probably damaging Het
Abtb3 G A 10: 85,494,200 (GRCm39) G1106D probably damaging Het
Anxa6 T C 11: 54,870,292 (GRCm39) D667G possibly damaging Het
Ap3m2 G T 8: 23,283,128 (GRCm39) A208D possibly damaging Het
Arhgap17 A T 7: 122,903,013 (GRCm39) probably benign Het
Bptf A G 11: 106,959,208 (GRCm39) V1838A probably damaging Het
Brip1 T A 11: 86,043,563 (GRCm39) M334L probably benign Het
Btbd10 C T 7: 112,934,516 (GRCm39) probably benign Het
Cdh20 C A 1: 109,980,696 (GRCm39) T208K probably damaging Het
Cnga4 A G 7: 105,055,025 (GRCm39) Y100C probably damaging Het
Dnah10 G A 5: 124,878,017 (GRCm39) V2644M probably damaging Het
Dnah9 T C 11: 65,856,515 (GRCm39) D2882G probably damaging Het
Eapp T A 12: 54,732,747 (GRCm39) K117M probably damaging Het
Eml3 T C 19: 8,916,427 (GRCm39) V673A probably benign Het
Ephb4 G A 5: 137,368,117 (GRCm39) C754Y probably damaging Het
Eps8l1 A G 7: 4,480,956 (GRCm39) D33G possibly damaging Het
Farsa A G 8: 85,594,212 (GRCm39) K321E probably damaging Het
Fry G A 5: 150,360,624 (GRCm39) R2090Q probably damaging Het
Gm10283 A G 8: 60,954,258 (GRCm39) probably benign Het
Grm4 A G 17: 27,650,464 (GRCm39) I844T probably benign Het
Gtf2h3 A G 5: 124,726,691 (GRCm39) D124G probably benign Het
Gulo A T 14: 66,227,890 (GRCm39) D347E probably damaging Het
Hmcn1 A G 1: 150,485,552 (GRCm39) F4350S possibly damaging Het
Hspg2 A G 4: 137,239,712 (GRCm39) D473G probably damaging Het
Il17ra T A 6: 120,458,466 (GRCm39) I539N probably damaging Het
Insrr A G 3: 87,720,440 (GRCm39) E1026G probably damaging Het
Itga2 A T 13: 114,993,186 (GRCm39) probably benign Het
Kdm1b A T 13: 47,212,286 (GRCm39) D190V possibly damaging Het
Lima1 A T 15: 99,700,040 (GRCm39) N146K probably damaging Het
Mnt G T 11: 74,733,122 (GRCm39) V85L probably benign Het
Mon2 T A 10: 122,861,970 (GRCm39) probably benign Het
Mtf1 T C 4: 124,713,994 (GRCm39) probably benign Het
Mylk4 T C 13: 32,896,737 (GRCm39) probably null Het
Myo18b A C 5: 113,013,616 (GRCm39) L780R probably damaging Het
Myo1e A G 9: 70,283,942 (GRCm39) probably benign Het
Obscn A G 11: 58,964,522 (GRCm39) S705P probably damaging Het
Ocrl A T X: 47,024,963 (GRCm39) probably benign Het
Or1e34 A T 11: 73,778,730 (GRCm39) M156K probably benign Het
Or4c35 T C 2: 89,808,545 (GRCm39) F141S probably benign Het
Or51k1 A T 7: 103,661,395 (GRCm39) C171* probably null Het
Or52ab4 A G 7: 102,987,393 (GRCm39) N44S probably damaging Het
Otof T A 5: 30,528,049 (GRCm39) K1931N probably damaging Het
Plcxd3 A G 15: 4,546,349 (GRCm39) S118G probably damaging Het
Plcz1 T A 6: 139,974,268 (GRCm39) Q58L probably benign Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Rassf4 T C 6: 116,622,897 (GRCm39) E38G probably damaging Het
Ros1 A T 10: 51,999,396 (GRCm39) Y1164N probably damaging Het
Rpgrip1l A G 8: 92,031,628 (GRCm39) I83T probably damaging Het
Scn9a T G 2: 66,357,143 (GRCm39) K1053Q probably damaging Het
Sgsm1 G T 5: 113,392,894 (GRCm39) Q1087K probably damaging Het
Slc16a10 T C 10: 40,017,914 (GRCm39) D40G probably benign Het
Slc27a6 A G 18: 58,689,885 (GRCm39) D117G probably damaging Het
Slc2a9 T A 5: 38,637,487 (GRCm39) probably benign Het
Slc4a1 A G 11: 102,248,741 (GRCm39) probably benign Het
Smarca1 T A X: 46,912,303 (GRCm39) Q982L probably benign Het
Sp100 T A 1: 85,608,831 (GRCm39) I320N possibly damaging Het
Stx8 A T 11: 68,000,188 (GRCm39) R209S probably null Het
Sulf2 T C 2: 165,925,799 (GRCm39) T453A possibly damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tenm2 T A 11: 35,915,607 (GRCm39) I1976F possibly damaging Het
Tenm3 G A 8: 48,730,745 (GRCm39) S1341L probably damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tmem200c A G 17: 69,147,506 (GRCm39) K30E probably damaging Het
Tmem225 A G 9: 40,061,043 (GRCm39) I117V possibly damaging Het
Tmt1a3 A T 15: 100,233,264 (GRCm39) N152Y possibly damaging Het
Top2a A G 11: 98,892,243 (GRCm39) I1073T probably damaging Het
Trps1 A C 15: 50,695,256 (GRCm39) Y296* probably null Het
Tubg1 T C 11: 101,016,162 (GRCm39) M377T probably benign Het
Tut7 A G 13: 59,957,301 (GRCm39) V7A probably damaging Het
Vmn1r35 G A 6: 66,656,497 (GRCm39) H58Y probably benign Het
Vmn1r56 G A 7: 5,199,429 (GRCm39) H63Y probably benign Het
Vmn1r75 T C 7: 11,615,189 (GRCm39) probably null Het
Vnn3 T C 10: 23,741,603 (GRCm39) S303P possibly damaging Het
Wdr49 C T 3: 75,338,383 (GRCm39) probably null Het
Wdr49 T C 3: 75,357,197 (GRCm39) probably null Het
Zzef1 T C 11: 72,804,004 (GRCm39) L2582P probably 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
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
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'- CAGAGAAAGTGAAGCTCCTTTCCCG -3'
(R):5'- AGACTGCTCATTTCTGACCAGCAAG -3'

Sequencing Primer
(F):5'- CCTCCAGGGCATATCATTTAAGG -3'
(R):5'- TGACCAGCAAGGCTCTTTTC -3'
Posted On 2013-07-11