Incidental Mutation 'R6474:Clrn2'
ID |
516726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clrn2
|
Ensembl Gene |
ENSMUSG00000049530 |
Gene Name |
clarin 2 |
Synonyms |
EG624224, mpc169H |
MMRRC Submission |
044607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6474 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
45611093-45621491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45621074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 156
(M156K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053250]
|
AlphaFold |
B2RVW2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053250
AA Change: M156K
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000058204 Gene: ENSMUSG00000049530 AA Change: M156K
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly 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 |
IGL01585:Clrn2
|
APN |
5 |
45,617,500 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGATGCTCTATCAGTTCTTAAAACCC -3'
(R):5'- GGGAATTTGACTGATTGCCACC -3'
Sequencing Primer
(F):5'- TAATCCCAGCACTTTGGAGG -3'
(R):5'- CACAACCAAGTTTGCTGCGTG -3'
|
Posted On |
2018-05-21 |