Incidental Mutation 'R8436:Chrdl2'
| ID |
653998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrdl2
|
| Ensembl Gene |
ENSMUSG00000030732 |
| Gene Name |
chordin-like 2 |
| Synonyms |
Chl2, 1810022C01Rik |
| MMRRC Submission |
067777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R8436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99655611-99683935 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 99676940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032977]
[ENSMUST00000107084]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032977
|
| SMART Domains |
Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
VWC
|
33 |
95 |
1.13e-3 |
SMART |
|
VWC
|
111 |
174 |
1.58e-1 |
SMART |
|
low complexity region
|
207 |
219 |
N/A |
INTRINSIC |
|
VWC
|
248 |
310 |
3.09e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107084
|
| SMART Domains |
Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732
| Domain | Start | End | E-Value | Type |
|---|
|
VWC
|
40 |
102 |
1.13e-3 |
SMART |
|
VWC
|
118 |
181 |
1.58e-1 |
SMART |
|
low complexity region
|
214 |
226 |
N/A |
INTRINSIC |
|
VWC
|
255 |
317 |
3.09e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144808
|
| SMART Domains |
Protein: ENSMUSP00000120760
Gene: ENSMUSG00000030732
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:VWC
|
2 |
34 |
2e-15 |
BLAST |
|
low complexity region
|
67 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
114 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,936 (GRCm39) |
I1278V |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,266,821 (GRCm39) |
H1210R |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,296,070 (GRCm39) |
S128L |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,800,398 (GRCm39) |
N1603K |
unknown |
Het |
| Cfap99 |
A |
G |
5: 34,469,026 (GRCm39) |
N300S |
possibly damaging |
Het |
| Cpb2 |
C |
A |
14: 75,510,015 (GRCm39) |
F258L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,218 (GRCm39) |
D767E |
probably damaging |
Het |
| Dennd3 |
C |
T |
15: 73,434,198 (GRCm39) |
T956I |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,129,228 (GRCm39) |
T245A |
possibly damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,864 (GRCm39) |
V239A |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,692,810 (GRCm39) |
A260T |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,446,421 (GRCm39) |
D205G |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,481,210 (GRCm39) |
S3005G |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,479,553 (GRCm39) |
L148P |
probably damaging |
Het |
| Irf2 |
C |
T |
8: 47,271,929 (GRCm39) |
T172M |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,970 (GRCm39) |
H82R |
possibly damaging |
Het |
| Kcnc4 |
G |
T |
3: 107,366,084 (GRCm39) |
N41K |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,682,870 (GRCm39) |
A490V |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,349,649 (GRCm39) |
E946K |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,452,200 (GRCm39) |
Y359N |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,349,709 (GRCm39) |
S1365G |
probably damaging |
Het |
| P3h3 |
C |
A |
6: 124,828,041 (GRCm39) |
|
probably null |
Het |
| Pdk2 |
A |
T |
11: 94,930,259 (GRCm39) |
V59D |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,683,613 (GRCm39) |
K168R |
probably benign |
Het |
| Prg4 |
G |
T |
1: 150,331,318 (GRCm39) |
P452T |
unknown |
Het |
| Prl2b1 |
T |
C |
13: 27,567,442 (GRCm39) |
N234S |
possibly damaging |
Het |
| Rnd1 |
T |
A |
15: 98,574,455 (GRCm39) |
T41S |
possibly damaging |
Het |
| Sall4 |
G |
A |
2: 168,597,830 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc1a2 |
G |
A |
2: 102,586,298 (GRCm39) |
A301T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,044,053 (GRCm39) |
T3531I |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,004,761 (GRCm39) |
D894G |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,178,659 (GRCm39) |
N4605S |
probably benign |
Het |
| Syt4 |
A |
C |
18: 31,573,472 (GRCm39) |
C348G |
possibly damaging |
Het |
| Tceanc2 |
G |
A |
4: 107,034,778 (GRCm39) |
T28M |
probably damaging |
Het |
| Tmco1 |
A |
G |
1: 167,136,254 (GRCm39) |
D5G |
|
Het |
| Tnfsf12 |
T |
C |
11: 69,577,713 (GRCm39) |
K235E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,450 (GRCm39) |
S2396P |
possibly damaging |
Het |
| Vipas39 |
T |
A |
12: 87,304,191 (GRCm39) |
D125V |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,771 (GRCm39) |
F35S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,649 (GRCm39) |
N619D |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,718,157 (GRCm39) |
V521A |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,273,035 (GRCm39) |
L166Q |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,821,022 (GRCm39) |
C706* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zscan21 |
A |
T |
5: 138,116,178 (GRCm39) |
Y30F |
unknown |
Het |
|
| Other mutations in Chrdl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Chrdl2
|
APN |
7 |
99,683,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00965:Chrdl2
|
APN |
7 |
99,655,860 (GRCm39) |
splice site |
probably null |
|
|
IGL01320:Chrdl2
|
APN |
7 |
99,666,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01322:Chrdl2
|
APN |
7 |
99,666,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Chrdl2
|
APN |
7 |
99,671,263 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02170:Chrdl2
|
APN |
7 |
99,683,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02478:Chrdl2
|
APN |
7 |
99,670,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02745:Chrdl2
|
APN |
7 |
99,670,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Chrdl2
|
APN |
7 |
99,676,787 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03377:Chrdl2
|
APN |
7 |
99,671,259 (GRCm39) |
missense |
probably benign |
0.03 |
|
Measley
|
UTSW |
7 |
99,659,328 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1453:Chrdl2
|
UTSW |
7 |
99,666,197 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1900:Chrdl2
|
UTSW |
7 |
99,682,871 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2092:Chrdl2
|
UTSW |
7 |
99,670,184 (GRCm39) |
nonsense |
probably null |
|
|
R3421:Chrdl2
|
UTSW |
7 |
99,673,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Chrdl2
|
UTSW |
7 |
99,678,412 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4305:Chrdl2
|
UTSW |
7 |
99,671,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4306:Chrdl2
|
UTSW |
7 |
99,671,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4776:Chrdl2
|
UTSW |
7 |
99,655,748 (GRCm39) |
unclassified |
probably benign |
|
|
R5208:Chrdl2
|
UTSW |
7 |
99,673,129 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5327:Chrdl2
|
UTSW |
7 |
99,677,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Chrdl2
|
UTSW |
7 |
99,670,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Chrdl2
|
UTSW |
7 |
99,659,200 (GRCm39) |
start gained |
probably benign |
|
|
R6706:Chrdl2
|
UTSW |
7 |
99,659,328 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7027:Chrdl2
|
UTSW |
7 |
99,671,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Chrdl2
|
UTSW |
7 |
99,677,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Chrdl2
|
UTSW |
7 |
99,678,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Chrdl2
|
UTSW |
7 |
99,659,332 (GRCm39) |
splice site |
probably null |
|
|
R7840:Chrdl2
|
UTSW |
7 |
99,682,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7870:Chrdl2
|
UTSW |
7 |
99,659,249 (GRCm39) |
missense |
unknown |
|
|
R7887:Chrdl2
|
UTSW |
7 |
99,678,457 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8394:Chrdl2
|
UTSW |
7 |
99,666,292 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8958:Chrdl2
|
UTSW |
7 |
99,670,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Chrdl2
|
UTSW |
7 |
99,655,743 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCAGCCTGGTTGGTGTC -3'
(R):5'- GAGGACTGGTTCTTTCTCTGACTC -3'
Sequencing Primer
(F):5'- AGACAGCTCCACATCCTGCTTG -3'
(R):5'- GACTCAGTCCTGTGCCCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation