Incidental Mutation 'R4072:Crtac1'
| ID |
316366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crtac1
|
| Ensembl Gene |
ENSMUSG00000042401 |
| Gene Name |
cartilage acidic protein 1 |
| Synonyms |
Lotus, Crtac1B, 2810454P21Rik |
| MMRRC Submission |
040854-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
R4072 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42271474-42421405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42293146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 321
(Y321C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048630]
|
| AlphaFold |
Q8R555 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048630
AA Change: Y321C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: Y321C
| 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 |
0.6874 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,342 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,152,445 (GRCm39) |
I1367T |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
| Acss3 |
C |
T |
10: 106,959,446 (GRCm39) |
|
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Ankar |
G |
T |
1: 72,727,751 (GRCm39) |
D169E |
probably damaging |
Het |
| Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,414,757 (GRCm39) |
I182T |
probably benign |
Het |
| Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,988,345 (GRCm39) |
I268T |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,742,917 (GRCm39) |
|
probably null |
Het |
| C2cd4d |
C |
A |
3: 94,271,185 (GRCm39) |
C150* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,070,227 (GRCm39) |
H1526R |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,340,444 (GRCm39) |
R2284* |
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
| Galntl5 |
A |
T |
5: 25,403,478 (GRCm39) |
K150* |
probably null |
Het |
| Gm19965 |
A |
G |
1: 116,748,801 (GRCm39) |
T161A |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,231,888 (GRCm39) |
E1617K |
possibly damaging |
Het |
| Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,888,009 (GRCm39) |
I7652T |
unknown |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
| Or8u8 |
T |
A |
2: 86,011,991 (GRCm39) |
M155L |
probably benign |
Het |
| Pde7a |
G |
A |
3: 19,311,017 (GRCm39) |
R70C |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,819 (GRCm39) |
I742T |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
| Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,265,581 (GRCm39) |
E389V |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,315,870 (GRCm39) |
N407S |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,740,329 (GRCm39) |
D374G |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,945,201 (GRCm39) |
I192N |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
| Tox |
T |
C |
4: 6,842,396 (GRCm39) |
T45A |
probably damaging |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Vwc2 |
T |
A |
11: 11,066,446 (GRCm39) |
L178Q |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTACCTTGGAGGATTCTC -3'
(R):5'- ACCTTCTCTTGTTGCTGGAG -3'
Sequencing Primer
(F):5'- ACCTGGATCCCTGCATGTTG -3'
(R):5'- CTGGAGGTGAATGTTTATGGAAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation