Incidental Mutation 'R4305:Chrdl2'
| ID |
323998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrdl2
|
| Ensembl Gene |
ENSMUSG00000030732 |
| Gene Name |
chordin-like 2 |
| Synonyms |
Chl2, 1810022C01Rik |
| MMRRC Submission |
041091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R4305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99655611-99683935 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99671229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 116
(T116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032977]
[ENSMUST00000107084]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032977
AA Change: T116A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032977
Gene: ENSMUSG00000030732
AA Change: T116A
| 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 damaging
Transcript: ENSMUST00000107084
AA Change: T123A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102699
Gene: ENSMUSG00000030732
AA Change: T123A
| 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 |
|
| Meta Mutation Damage Score |
0.2843 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Abl2 |
T |
A |
1: 156,469,133 (GRCm39) |
M695K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,391,991 (GRCm39) |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,211,633 (GRCm39) |
V98A |
probably benign |
Het |
| Ceacam23 |
T |
A |
7: 17,639,118 (GRCm39) |
Y372N |
probably benign |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,346,883 (GRCm39) |
|
probably null |
Het |
| Garin1b |
A |
G |
6: 29,326,611 (GRCm39) |
S243G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,430,880 (GRCm39) |
E394G |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,476,381 (GRCm39) |
R114Q |
probably damaging |
Het |
| Med23 |
G |
T |
10: 24,780,168 (GRCm39) |
E573* |
probably null |
Het |
| Mtch2 |
A |
G |
2: 90,689,827 (GRCm39) |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,438,836 (GRCm39) |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,367,936 (GRCm39) |
D657G |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,643 (GRCm39) |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,748,681 (GRCm39) |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,360 (GRCm39) |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,974,976 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,027,172 (GRCm39) |
T808A |
probably damaging |
Het |
| Zdhhc4 |
C |
T |
5: 143,310,099 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8436:Chrdl2
|
UTSW |
7 |
99,676,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CAGGGAAGGCCTAAGTTAGACC -3'
(R):5'- AGCCTCTCTGATCCTTAGAGC -3'
Sequencing Primer
(F):5'- TTAAATGTTGAGAGAAACAGAGTCAG -3'
(R):5'- TGATCCTTAGAGCCCCACC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation