Incidental Mutation 'R2210:Cbln3'
| ID |
239328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbln3
|
| Ensembl Gene |
ENSMUSG00000040380 |
| Gene Name |
cerebellin 3 precursor protein |
| Synonyms |
|
| MMRRC Submission |
040212-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2210 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56116377-56121713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56121383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 88
(I88F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022831]
[ENSMUST00000063871]
[ENSMUST00000172378]
[ENSMUST00000228462]
|
| AlphaFold |
Q9JHG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022831
|
| SMART Domains |
Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
350 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
429 |
582 |
1.9e-66 |
PFAM |
|
low complexity region
|
623 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063871
AA Change: I88F
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380
AA Change: I88F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
C1Q
|
57 |
197 |
6.3e-40 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172378
AA Change: I88F
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380
AA Change: I88F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
C1Q
|
57 |
197 |
6.3e-40 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228462
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no apparent defects in cerebellar foliation and lamination or Purkinje cell morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
| Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
| Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
| Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
| Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
| Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
| Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
| Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
| Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
probably damaging |
Het |
|
| Other mutations in Cbln3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02820:Cbln3
|
APN |
14 |
56,120,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Cbln3
|
UTSW |
14 |
56,120,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Cbln3
|
UTSW |
14 |
56,121,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2472:Cbln3
|
UTSW |
14 |
56,121,538 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4524:Cbln3
|
UTSW |
14 |
56,121,522 (GRCm39) |
nonsense |
probably null |
|
|
R5295:Cbln3
|
UTSW |
14 |
56,120,920 (GRCm39) |
splice site |
probably null |
|
|
R5746:Cbln3
|
UTSW |
14 |
56,120,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Cbln3
|
UTSW |
14 |
56,121,517 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8391:Cbln3
|
UTSW |
14 |
56,120,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCACTGGGTTGGCATTTG -3'
(R):5'- AAGAAGGGTCAGAGCCTGTC -3'
Sequencing Primer
(F):5'- CTATGAGGAAGGGCTACGGTGC -3'
(R):5'- TCAGAGCCTGTCCTACTGGAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation