Incidental Mutation 'R6858:Crtac1'
| ID |
535395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crtac1
|
| Ensembl Gene |
ENSMUSG00000042401 |
| Gene Name |
cartilage acidic protein 1 |
| Synonyms |
Lotus, Crtac1B, 2810454P21Rik |
| MMRRC Submission |
044960-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
R6858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42271474-42421405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42307174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 196
(I196M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048630]
|
| AlphaFold |
Q8R555 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048630
AA Change: I196M
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: I196M
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
96% (49/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
T |
C |
4: 49,538,796 (GRCm39) |
T241A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,070,283 (GRCm39) |
I65V |
probably benign |
Het |
| Bhmt2 |
C |
T |
13: 93,807,948 (GRCm39) |
E47K |
probably damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,979,514 (GRCm39) |
G213D |
probably benign |
Het |
| C4b |
C |
G |
17: 34,948,805 (GRCm39) |
A1548P |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,874,017 (GRCm39) |
V605A |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,420,195 (GRCm39) |
|
probably null |
Het |
| Cntrl |
T |
C |
2: 35,052,107 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,385,144 (GRCm39) |
D87G |
probably damaging |
Het |
| Crim1 |
A |
T |
17: 78,623,056 (GRCm39) |
E418V |
probably damaging |
Het |
| Crtap |
T |
C |
9: 114,209,084 (GRCm39) |
Y320C |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,452 (GRCm39) |
V27A |
probably damaging |
Het |
| Cyp2c69 |
G |
A |
19: 39,866,009 (GRCm39) |
L195F |
probably benign |
Het |
| Cyp2d26 |
G |
A |
15: 82,678,284 (GRCm39) |
R31C |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fign |
G |
T |
2: 63,810,157 (GRCm39) |
T371K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,222,375 (GRCm39) |
T2069A |
probably damaging |
Het |
| Gm3486 |
A |
G |
14: 41,210,322 (GRCm39) |
I53T |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,313 (GRCm39) |
N198S |
possibly damaging |
Het |
| Ighv1-42 |
A |
G |
12: 114,900,966 (GRCm39) |
S40P |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,204,892 (GRCm39) |
V515A |
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,058,542 (GRCm39) |
I523L |
possibly damaging |
Het |
| Lmx1a |
A |
T |
1: 167,660,450 (GRCm39) |
N245I |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,795,949 (GRCm39) |
D157G |
possibly damaging |
Het |
| Ola1 |
T |
C |
2: 72,927,574 (GRCm39) |
H335R |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,925 (GRCm39) |
M199L |
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,087 (GRCm39) |
I124T |
probably damaging |
Het |
| Or6c213 |
A |
G |
10: 129,574,333 (GRCm39) |
F151S |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,765 (GRCm39) |
I214T |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,034 (GRCm39) |
I256T |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,959,502 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,198,219 (GRCm39) |
G304D |
probably benign |
Het |
| Potegl |
T |
C |
2: 23,102,676 (GRCm39) |
V138A |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,095,470 (GRCm39) |
C325S |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,450,847 (GRCm39) |
I40V |
probably damaging |
Het |
| Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,156 (GRCm39) |
I1469V |
probably benign |
Het |
| Serpina3k |
G |
A |
12: 104,311,504 (GRCm39) |
A361T |
possibly damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,365,171 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tmco3 |
A |
G |
8: 13,363,924 (GRCm39) |
D82G |
probably damaging |
Het |
| Trbv28 |
G |
T |
6: 41,248,624 (GRCm39) |
M51I |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,165,828 (GRCm39) |
H204L |
possibly damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
T |
C |
6: 57,955,996 (GRCm39) |
S98G |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,044,915 (GRCm39) |
F77S |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,580 (GRCm39) |
M654L |
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,764 (GRCm39) |
K211* |
probably null |
Het |
| Zwilch |
C |
T |
9: 64,060,869 (GRCm39) |
D328N |
probably damaging |
Het |
|
| Other mutations in Crtac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Crtac1
|
APN |
19 |
42,312,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGTTGCTGATGACTTAGAC -3'
(R):5'- CATTTGCACGCAGCTTTTGTG -3'
Sequencing Primer
(F):5'- GTTGCTGATGACTTAGACACAGCTC -3'
(R):5'- CACGCAGCTTTTGTGATGAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation