Incidental Mutation 'IGL00942:Crtac1'
| ID |
29517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crtac1
|
| Ensembl Gene |
ENSMUSG00000042401 |
| Gene Name |
cartilage acidic protein 1 |
| Synonyms |
Lotus, Crtac1B, 2810454P21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
IGL00942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42271474-42421405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 42312233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 160
(D160A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048630]
|
| AlphaFold |
Q8R555 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048630
AA Change: D160A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: D160A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:VCBS
|
63 |
133 |
6.6e-12 |
PFAM |
|
Pfam:VCBS
|
254 |
311 |
2e-12 |
PFAM |
|
Pfam:VCBS
|
300 |
364 |
4.9e-13 |
PFAM |
|
low complexity region
|
403 |
417 |
N/A |
INTRINSIC |
|
Pfam:UnbV_ASPIC
|
459 |
528 |
8.9e-18 |
PFAM |
|
Pfam:EGF_CA
|
560 |
606 |
2.1e-13 |
PFAM |
|
low complexity region
|
630 |
646 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
| Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
| Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
| Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
| H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
| Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
| Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
| Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
| Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
| Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
| Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
Het |
|
| Other mutations in Crtac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Crtac1
|
APN |
19 |
42,272,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01991:Crtac1
|
APN |
19 |
42,402,560 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02811:Crtac1
|
APN |
19 |
42,322,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Crtac1
|
UTSW |
19 |
42,276,383 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2046:Crtac1
|
UTSW |
19 |
42,322,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Crtac1
|
UTSW |
19 |
42,312,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Crtac1
|
UTSW |
19 |
42,272,006 (GRCm39) |
missense |
unknown |
|
|
R2281:Crtac1
|
UTSW |
19 |
42,272,006 (GRCm39) |
missense |
unknown |
|
|
R3508:Crtac1
|
UTSW |
19 |
42,293,180 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3923:Crtac1
|
UTSW |
19 |
42,322,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Crtac1
|
UTSW |
19 |
42,293,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Crtac1
|
UTSW |
19 |
42,312,240 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4951:Crtac1
|
UTSW |
19 |
42,402,570 (GRCm39) |
missense |
probably benign |
|
|
R4965:Crtac1
|
UTSW |
19 |
42,307,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Crtac1
|
UTSW |
19 |
42,322,347 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5579:Crtac1
|
UTSW |
19 |
42,293,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Crtac1
|
UTSW |
19 |
42,402,390 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5739:Crtac1
|
UTSW |
19 |
42,290,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Crtac1
|
UTSW |
19 |
42,297,629 (GRCm39) |
splice site |
probably null |
|
|
R5936:Crtac1
|
UTSW |
19 |
42,312,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Crtac1
|
UTSW |
19 |
42,272,048 (GRCm39) |
missense |
unknown |
|
|
R6193:Crtac1
|
UTSW |
19 |
42,312,236 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6858:Crtac1
|
UTSW |
19 |
42,307,174 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7246:Crtac1
|
UTSW |
19 |
42,276,365 (GRCm39) |
missense |
probably benign |
|
|
R7726:Crtac1
|
UTSW |
19 |
42,290,690 (GRCm39) |
nonsense |
probably null |
|
|
R7991:Crtac1
|
UTSW |
19 |
42,322,399 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8046:Crtac1
|
UTSW |
19 |
42,297,492 (GRCm39) |
splice site |
probably benign |
|
|
R8071:Crtac1
|
UTSW |
19 |
42,286,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Crtac1
|
UTSW |
19 |
42,297,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Crtac1
|
UTSW |
19 |
42,297,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Crtac1
|
UTSW |
19 |
42,286,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Crtac1
|
UTSW |
19 |
42,402,557 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0018:Crtac1
|
UTSW |
19 |
42,297,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Crtac1
|
UTSW |
19 |
42,276,365 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation