Incidental Mutation 'R6881:Clrn2'
| ID |
536659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clrn2
|
| Ensembl Gene |
ENSMUSG00000049530 |
| Gene Name |
clarin 2 |
| Synonyms |
EG624224, mpc169H |
| MMRRC Submission |
045030-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6881 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45611093-45621491 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 45611164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 4
(W4*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015950]
[ENSMUST00000053250]
[ENSMUST00000118097]
[ENSMUST00000120867]
[ENSMUST00000127562]
[ENSMUST00000154962]
[ENSMUST00000197946]
[ENSMUST00000198258]
|
| AlphaFold |
B2RVW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015950
|
| SMART Domains |
Protein: ENSMUSP00000015950
Gene: ENSMUSG00000015806
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
8 |
195 |
5.4e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000053250
AA Change: W4*
|
| SMART Domains |
Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: W4*
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118097
|
| SMART Domains |
Protein: ENSMUSP00000113958
Gene: ENSMUSG00000015806
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DIR|D
|
1 |
189 |
1e-124 |
PDB |
|
SCOP:d1hdr__
|
7 |
189 |
4e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120867
|
| SMART Domains |
Protein: ENSMUSP00000113203
Gene: ENSMUSG00000015806
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DIR|D
|
1 |
189 |
1e-124 |
PDB |
|
SCOP:d1hdr__
|
7 |
189 |
4e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127562
|
| SMART Domains |
Protein: ENSMUSP00000115453
Gene: ENSMUSG00000015806
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DIR|D
|
1 |
137 |
7e-67 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154962
|
| SMART Domains |
Protein: ENSMUSP00000122081
Gene: ENSMUSG00000015806
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DIR|D
|
1 |
159 |
7e-72 |
PDB |
|
SCOP:d1hdr__
|
6 |
159 |
6e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197946
|
| SMART Domains |
Protein: ENSMUSP00000143584
Gene: ENSMUSG00000015806
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DIR|D
|
1 |
213 |
1e-125 |
PDB |
|
SCOP:d1hdr__
|
6 |
162 |
2e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198258
|
| SMART Domains |
Protein: ENSMUSP00000143741
Gene: ENSMUSG00000015806
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1DIR|D
|
1 |
139 |
8e-86 |
PDB |
|
SCOP:d1hdr__
|
14 |
139 |
6e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
C |
9: 15,202,061 (GRCm39) |
C187G |
possibly damaging |
Het |
| Abhd16a |
C |
T |
17: 35,315,577 (GRCm39) |
T208I |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,425 (GRCm39) |
H425Q |
probably damaging |
Het |
| Ankrd22 |
T |
A |
19: 34,126,782 (GRCm39) |
N16I |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,483 (GRCm39) |
E1321G |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,799,028 (GRCm39) |
E35G |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,312,480 (GRCm39) |
I318V |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,163,334 (GRCm39) |
I355T |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,226,800 (GRCm39) |
V2763M |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,865,658 (GRCm39) |
S749P |
probably damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,608,002 (GRCm39) |
R210L |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,068,372 (GRCm39) |
S2715N |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,590,995 (GRCm39) |
L1021P |
probably damaging |
Het |
| Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
| Galnt11 |
G |
T |
5: 25,455,097 (GRCm39) |
K144N |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,025,279 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,208,390 (GRCm39) |
D75E |
probably benign |
Het |
| Kcnk2 |
C |
T |
1: 188,942,187 (GRCm39) |
V346M |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,128,929 (GRCm39) |
M767L |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,925,665 (GRCm39) |
I1898T |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,518,368 (GRCm39) |
T290A |
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,326,246 (GRCm39) |
I3521F |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,174,586 (GRCm39) |
S1835P |
probably benign |
Het |
| Mef2c |
C |
A |
13: 83,741,061 (GRCm39) |
N73K |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,439,725 (GRCm39) |
S572G |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,367,185 (GRCm39) |
S520T |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,304 (GRCm39) |
N8S |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,591,200 (GRCm39) |
L37S |
probably benign |
Het |
| Or4c110 |
A |
T |
2: 88,832,281 (GRCm39) |
M117K |
probably damaging |
Het |
| P3h2 |
G |
A |
16: 25,811,495 (GRCm39) |
R243C |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,132,563 (GRCm39) |
S584P |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,353,513 (GRCm39) |
N278S |
possibly damaging |
Het |
| Radil |
A |
G |
5: 142,472,672 (GRCm39) |
S913P |
probably benign |
Het |
| Retreg2 |
A |
C |
1: 75,123,083 (GRCm39) |
Q337P |
probably damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,956,178 (GRCm39) |
E305G |
possibly damaging |
Het |
| Shank1 |
G |
T |
7: 44,001,217 (GRCm39) |
D979Y |
unknown |
Het |
| Slc35a5 |
A |
T |
16: 44,964,443 (GRCm39) |
N263K |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,737,452 (GRCm38) |
M127L |
probably benign |
Het |
| Slc8a2 |
G |
A |
7: 15,891,282 (GRCm39) |
G774E |
probably damaging |
Het |
| Smim45 |
C |
A |
15: 82,143,786 (GRCm39) |
H3N |
possibly damaging |
Het |
| Snap91 |
A |
G |
9: 86,655,646 (GRCm39) |
S847P |
possibly damaging |
Het |
| Stoml1 |
T |
C |
9: 58,168,177 (GRCm39) |
L296P |
probably damaging |
Het |
| Tap1 |
G |
T |
17: 34,407,008 (GRCm39) |
G52V |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,977,416 (GRCm39) |
V363A |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,117,539 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,536,846 (GRCm39) |
Y34993C |
probably damaging |
Het |
| Uchl1 |
T |
C |
5: 66,841,065 (GRCm39) |
F165L |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,246,776 (GRCm39) |
Q15* |
probably null |
Het |
| Zkscan7 |
C |
G |
9: 122,717,766 (GRCm39) |
Q54E |
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 |
|
R6474:Clrn2
|
UTSW |
5 |
45,621,074 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- ATAGGGTTACTTCCTTGGGTAACAC -3'
(R):5'- GTCCCCGATGAATTTGACCAG -3'
Sequencing Primer
(F):5'- GGGTAACACACTCTGCTATATCAAG -3'
(R):5'- CCCGATGAATTTGACCAGTTCTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation