Incidental Mutation 'IGL01585:Clrn2'
| ID |
93343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clrn2
|
| Ensembl Gene |
ENSMUSG00000049530 |
| Gene Name |
clarin 2 |
| Synonyms |
EG624224, mpc169H |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL01585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
45611093-45621491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45617500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 124
(I124V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053250]
|
| AlphaFold |
B2RVW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053250
AA Change: I124V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: I124V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
102 |
124 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,359,045 (GRCm39) |
D587G |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,117,143 (GRCm39) |
N1003K |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,462 (GRCm39) |
D847G |
probably benign |
Het |
| Atp5f1a |
T |
C |
18: 77,868,758 (GRCm39) |
V417A |
possibly damaging |
Het |
| Avp |
A |
C |
2: 130,422,629 (GRCm39) |
S159A |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,462,981 (GRCm39) |
A915D |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,370,462 (GRCm39) |
R1185H |
possibly damaging |
Het |
| Cdcp3 |
T |
G |
7: 130,846,487 (GRCm39) |
V637G |
probably damaging |
Het |
| Cntn4 |
A |
T |
6: 106,595,289 (GRCm39) |
K469* |
probably null |
Het |
| Cxcl1 |
T |
A |
5: 91,039,583 (GRCm39) |
N70K |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,458,492 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,202,030 (GRCm39) |
V1281E |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,891,305 (GRCm39) |
Q523L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,445,954 (GRCm39) |
K403R |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,759,336 (GRCm39) |
I262T |
probably benign |
Het |
| Gstm3 |
G |
T |
3: 107,873,474 (GRCm39) |
Q166K |
probably benign |
Het |
| Ilf2 |
T |
A |
3: 90,391,849 (GRCm39) |
N183K |
probably damaging |
Het |
| Ip6k2 |
T |
A |
9: 108,673,512 (GRCm39) |
L40Q |
probably damaging |
Het |
| Itga8 |
A |
T |
2: 12,165,123 (GRCm39) |
|
probably benign |
Het |
| Lbr |
T |
A |
1: 181,653,208 (GRCm39) |
R70* |
probably null |
Het |
| Lilra6 |
T |
C |
7: 3,917,498 (GRCm39) |
T166A |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,467,846 (GRCm39) |
K1063E |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,568,949 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,792,197 (GRCm39) |
V408A |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,306,538 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,891 (GRCm39) |
|
probably null |
Het |
| Prrt4 |
A |
G |
6: 29,177,689 (GRCm39) |
S27P |
probably benign |
Het |
| Psmg1 |
G |
A |
16: 95,789,221 (GRCm39) |
T112I |
possibly damaging |
Het |
| Rfx7 |
T |
G |
9: 72,524,343 (GRCm39) |
I511S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,031,198 (GRCm39) |
T481M |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,462,336 (GRCm39) |
D397G |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,311,578 (GRCm39) |
Y636H |
probably damaging |
Het |
| Sgms1 |
T |
G |
19: 32,120,245 (GRCm39) |
R220S |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,314,196 (GRCm39) |
I472N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,995,834 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,782,463 (GRCm39) |
V579A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,162,924 (GRCm39) |
H1002L |
probably damaging |
Het |
|
| Other mutations in Clrn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Clrn2
|
APN |
5 |
45,621,311 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01538:Clrn2
|
APN |
5 |
45,617,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Clrn2
|
APN |
5 |
45,617,503 (GRCm39) |
missense |
probably benign |
|
|
IGL02479:Clrn2
|
APN |
5 |
45,621,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02709:Clrn2
|
APN |
5 |
45,617,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03220:Clrn2
|
APN |
5 |
45,621,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Clrn2
|
UTSW |
5 |
45,617,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Clrn2
|
UTSW |
5 |
45,611,337 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2258:Clrn2
|
UTSW |
5 |
45,611,304 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4806:Clrn2
|
UTSW |
5 |
45,611,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Clrn2
|
UTSW |
5 |
45,621,061 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5987:Clrn2
|
UTSW |
5 |
45,611,369 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6029:Clrn2
|
UTSW |
5 |
45,617,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Clrn2
|
UTSW |
5 |
45,617,540 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6474:Clrn2
|
UTSW |
5 |
45,621,074 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6881:Clrn2
|
UTSW |
5 |
45,611,164 (GRCm39) |
nonsense |
probably null |
|
|
R6939:Clrn2
|
UTSW |
5 |
45,611,096 (GRCm39) |
unclassified |
probably benign |
|
|
R7156:Clrn2
|
UTSW |
5 |
45,611,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7186:Clrn2
|
UTSW |
5 |
45,611,115 (GRCm39) |
unclassified |
probably benign |
|
|
R7392:Clrn2
|
UTSW |
5 |
45,621,251 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8495:Clrn2
|
UTSW |
5 |
45,617,485 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9152:Clrn2
|
UTSW |
5 |
45,621,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9214:Clrn2
|
UTSW |
5 |
45,617,518 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9227:Clrn2
|
UTSW |
5 |
45,621,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9230:Clrn2
|
UTSW |
5 |
45,621,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9458:Clrn2
|
UTSW |
5 |
45,617,513 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9685:Clrn2
|
UTSW |
5 |
45,611,331 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9772:Clrn2
|
UTSW |
5 |
45,611,369 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation