Incidental Mutation 'R2002:Acan'
| ID |
223200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acan
|
| Ensembl Gene |
ENSMUSG00000030607 |
| Gene Name |
aggrecan |
| Synonyms |
Agc1, Cspg1, b2b183Clo |
| MMRRC Submission |
040012-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
78703231-78764847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78750541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1771
(S1771P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032835]
|
| AlphaFold |
Q61282 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032835
AA Change: S1771P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: S1771P
| 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: S348P
|
| Meta Mutation Damage Score |
0.0957 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.6%
|
| Validation Efficiency |
97% (72/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548G14Rik |
T |
C |
15: 46,489,002 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
A |
5: 8,955,989 (GRCm39) |
S98T |
probably benign |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Ak2 |
T |
A |
4: 128,902,022 (GRCm39) |
S232T |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,657,564 (GRCm39) |
|
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,328,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,300 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,897,676 (GRCm39) |
V269A |
possibly damaging |
Het |
| Apba2 |
A |
T |
7: 64,383,290 (GRCm39) |
I368F |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,293,747 (GRCm39) |
M513V |
probably benign |
Het |
| Asb5 |
G |
A |
8: 55,036,655 (GRCm39) |
V116M |
probably damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,944,127 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atp6v0c |
G |
T |
17: 24,383,835 (GRCm39) |
T40K |
probably damaging |
Het |
| Cdk2ap2 |
A |
G |
19: 4,147,903 (GRCm39) |
M57V |
possibly damaging |
Het |
| Cip2a |
T |
C |
16: 48,826,214 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,704 (GRCm39) |
N172S |
probably benign |
Het |
| Ddx55 |
T |
A |
5: 124,704,503 (GRCm39) |
V370E |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,831 (GRCm39) |
T48A |
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,911,052 (GRCm39) |
R4490W |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,326,425 (GRCm39) |
S929R |
unknown |
Het |
| Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
| Fam209 |
C |
A |
2: 172,314,689 (GRCm39) |
N59K |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,931 (GRCm39) |
E106G |
probably benign |
Het |
| Frmd4a |
A |
C |
2: 4,577,176 (GRCm39) |
K344T |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,325,814 (GRCm39) |
E617G |
probably damaging |
Het |
| Gm5089 |
T |
A |
14: 122,673,686 (GRCm39) |
I12F |
unknown |
Het |
| Gm7052 |
T |
A |
17: 22,258,920 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 56,902,930 (GRCm39) |
N24I |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,243 (GRCm39) |
E1101G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
C |
14: 23,387,097 (GRCm39) |
S982A |
probably damaging |
Het |
| Khdrbs3 |
T |
A |
15: 68,885,328 (GRCm39) |
|
probably benign |
Het |
| Kif23 |
A |
T |
9: 61,834,666 (GRCm39) |
C426* |
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,124,497 (GRCm39) |
A319S |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,920,342 (GRCm39) |
T7S |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Mamdc4 |
A |
T |
2: 25,457,244 (GRCm39) |
W548R |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,850,609 (GRCm39) |
R88Q |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,737 (GRCm39) |
T158A |
probably benign |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,485,839 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,586 (GRCm39) |
H655L |
possibly damaging |
Het |
| Npas2 |
T |
C |
1: 39,377,276 (GRCm39) |
V546A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,299,089 (GRCm39) |
A400T |
probably damaging |
Het |
| Oog3 |
G |
T |
4: 143,884,675 (GRCm39) |
H420Q |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,865 (GRCm39) |
S78R |
possibly damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,744 (GRCm39) |
V316E |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,817 (GRCm39) |
H266R |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,958,557 (GRCm39) |
H177L |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,124,477 (GRCm39) |
I683V |
probably benign |
Het |
| Pea15a |
T |
C |
1: 172,026,252 (GRCm39) |
I90V |
probably benign |
Het |
| Plagl1 |
C |
A |
10: 13,004,402 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
G |
7: 44,628,148 (GRCm39) |
V237A |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,027,833 (GRCm39) |
Y910* |
probably null |
Het |
| Rasal3 |
T |
A |
17: 32,612,585 (GRCm39) |
T757S |
probably damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,860,223 (GRCm39) |
|
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,506,544 (GRCm39) |
S17P |
probably benign |
Het |
| Scel |
G |
A |
14: 103,779,421 (GRCm39) |
V131M |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
| Snap29 |
T |
A |
16: 17,224,190 (GRCm39) |
Y68* |
probably null |
Het |
| Spdl1 |
T |
C |
11: 34,713,473 (GRCm39) |
T199A |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,449,828 (GRCm39) |
N14D |
probably benign |
Het |
| Ston1 |
G |
A |
17: 88,942,957 (GRCm39) |
G121D |
probably benign |
Het |
| Syt16 |
G |
A |
12: 74,281,977 (GRCm39) |
G367E |
possibly damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,710 (GRCm39) |
T25A |
possibly damaging |
Het |
| Tmem182 |
T |
A |
1: 40,845,355 (GRCm39) |
Y77N |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,687,627 (GRCm39) |
|
probably benign |
Het |
| Trp73 |
T |
C |
4: 154,165,902 (GRCm39) |
T56A |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,959,947 (GRCm39) |
K1194R |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,830,935 (GRCm39) |
|
probably null |
Het |
| Ube4b |
T |
C |
4: 149,468,254 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,953 (GRCm39) |
M238K |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,798 (GRCm39) |
N77K |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,318 (GRCm39) |
R85Q |
probably benign |
Het |
| Zmynd11 |
T |
A |
13: 9,739,514 (GRCm39) |
|
probably null |
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 |
|
|
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'- TATGACATACACTCCCCGGCTC -3'
(R):5'- TTCAGTCCTGTCTCCAGAAGC -3'
Sequencing Primer
(F):5'- ACTCCCCGGCTCTTTGAGG -3'
(R):5'- TCCTGTCTCCAGAAGCCATGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation