Incidental Mutation 'IGL00157:Cbln2'
| ID |
725 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cbln2
|
| Ensembl Gene |
ENSMUSG00000024647 |
| Gene Name |
cerebellin 2 precursor protein |
| Synonyms |
6330593N19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL00157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
86729235-86736408 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 86734509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 156
(Q156*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068423]
[ENSMUST00000122079]
[ENSMUST00000122464]
[ENSMUST00000169470]
|
| AlphaFold |
Q8BGU2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068423
AA Change: Q156*
|
| SMART Domains |
Protein: ENSMUSP00000068863
Gene: ENSMUSG00000024647
AA Change: Q156*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
C1Q
|
86 |
224 |
4.65e-61 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122079
AA Change: Q156*
|
| SMART Domains |
Protein: ENSMUSP00000113695
Gene: ENSMUSG00000024647
AA Change: Q156*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
C1Q
|
86 |
224 |
4.65e-61 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122464
AA Change: Q156*
|
| SMART Domains |
Protein: ENSMUSP00000113996
Gene: ENSMUSG00000024647
AA Change: Q156*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
C1Q
|
86 |
224 |
4.65e-61 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169470
AA Change: Q156*
|
| SMART Domains |
Protein: ENSMUSP00000126810
Gene: ENSMUSG00000024647
AA Change: Q156*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
C1Q
|
86 |
224 |
4.65e-61 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to a family of secreted neuronal glycoproteins. The transcript is broadly expressed in the embryonic and adult brain with higher levels in some regions including the olfactory bulb, thalamus, and cerebral cortex. The protein can bind to presynaptic neurexins and induce synaptogenesis in cultured neurons. Null mutant mice are viable, fertile and do not display obvious neuroanatomical defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: No overt anatomical or neuroanatomical defects are observed in mice homozygous for deletion of this gene. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,902,875 (GRCm39) |
V331A |
possibly damaging |
Het |
| Casr |
C |
A |
16: 36,316,172 (GRCm39) |
V633F |
probably damaging |
Het |
| Cblb |
T |
G |
16: 52,003,670 (GRCm39) |
V716G |
probably benign |
Het |
| Cnn1 |
G |
T |
9: 22,010,693 (GRCm39) |
L14F |
possibly damaging |
Het |
| D830013O20Rik |
T |
C |
12: 73,411,021 (GRCm39) |
|
noncoding transcript |
Het |
| Drd1 |
A |
G |
13: 54,207,897 (GRCm39) |
S99P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,707 (GRCm39) |
V486A |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,178,018 (GRCm39) |
|
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,476,246 (GRCm39) |
|
probably null |
Het |
| Jag2 |
T |
C |
12: 112,876,338 (GRCm39) |
T790A |
probably benign |
Het |
| Klhdc1 |
T |
A |
12: 69,288,782 (GRCm39) |
Y31N |
possibly damaging |
Het |
| Lama1 |
A |
T |
17: 68,122,923 (GRCm39) |
M2769L |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,896 (GRCm39) |
|
probably null |
Het |
| Msrb2 |
C |
A |
2: 19,399,152 (GRCm39) |
P172T |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,539 (GRCm39) |
V161A |
probably benign |
Het |
| Or8k41 |
T |
C |
2: 86,313,562 (GRCm39) |
S175G |
probably benign |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,332 (GRCm39) |
D775E |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,637,098 (GRCm39) |
|
probably null |
Het |
| Preb |
A |
T |
5: 31,113,308 (GRCm39) |
D375E |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,515,090 (GRCm39) |
I1010T |
probably damaging |
Het |
| Rbp2 |
A |
G |
9: 98,380,950 (GRCm39) |
|
probably null |
Het |
| Septin9 |
A |
G |
11: 117,243,010 (GRCm39) |
T66A |
probably damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,219,608 (GRCm39) |
E178D |
probably benign |
Het |
| Shld2 |
A |
G |
14: 33,990,582 (GRCm39) |
V108A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,719,015 (GRCm39) |
Y258C |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,483,731 (GRCm39) |
R548G |
probably benign |
Het |
| Uba7 |
G |
A |
9: 107,856,310 (GRCm39) |
A536T |
probably benign |
Het |
| Vmn2r114 |
G |
A |
17: 23,510,639 (GRCm39) |
P614S |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,469,246 (GRCm39) |
|
probably benign |
Het |
| Yrdc |
T |
C |
4: 124,747,754 (GRCm39) |
S86P |
probably damaging |
Het |
| Zbed6 |
G |
T |
1: 133,585,114 (GRCm39) |
A741D |
probably damaging |
Het |
|
| Other mutations in Cbln2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01942:Cbln2
|
APN |
18 |
86,734,450 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02369:Cbln2
|
APN |
18 |
86,731,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02983:Cbln2
|
APN |
18 |
86,731,504 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0899:Cbln2
|
UTSW |
18 |
86,734,877 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1778:Cbln2
|
UTSW |
18 |
86,731,272 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2004:Cbln2
|
UTSW |
18 |
86,734,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5571:Cbln2
|
UTSW |
18 |
86,731,273 (GRCm39) |
missense |
probably benign |
|
|
R7136:Cbln2
|
UTSW |
18 |
86,734,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Cbln2
|
UTSW |
18 |
86,734,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2011-07-12 |
Incidental Mutation