Incidental Mutation 'R6719:Clrn1'
| ID |
529485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clrn1
|
| Ensembl Gene |
ENSMUSG00000043850 |
| Gene Name |
clarin 1 |
| Synonyms |
clarin-1, USH3, Ush3a, A130002D11Rik |
| MMRRC Submission |
044837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
58751449-58792633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58753861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 167
(C167S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051408]
[ENSMUST00000055636]
[ENSMUST00000072551]
|
| AlphaFold |
Q8K445 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051408
AA Change: C149S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051738
Gene: ENSMUSG00000043850
AA Change: C149S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Claudin_2
|
18 |
208 |
1.8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055636
AA Change: C167S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052254
Gene: ENSMUSG00000043850
AA Change: C167S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
transmembrane domain
|
207 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072551
AA Change: C89S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072363
Gene: ENSMUSG00000043850
AA Change: C89S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1hw7a_
|
65 |
87 |
5e-3 |
SMART |
|
transmembrane domain
|
129 |
151 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161419
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss and loss of balance associated with defects in outer hair cells and supporting cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
T |
C |
19: 42,041,151 (GRCm39) |
I94T |
possibly damaging |
Het |
| Afp |
T |
A |
5: 90,651,562 (GRCm39) |
N392K |
probably benign |
Het |
| Asrgl1 |
C |
T |
19: 9,090,512 (GRCm39) |
G278D |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,301,377 (GRCm39) |
I611V |
probably damaging |
Het |
| Avl9 |
A |
G |
6: 56,730,370 (GRCm39) |
Y571C |
probably damaging |
Het |
| Ctsr |
C |
T |
13: 61,308,265 (GRCm39) |
G293D |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,721,332 (GRCm39) |
S1867T |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,847,439 (GRCm39) |
I1025N |
probably damaging |
Het |
| Dppa4 |
G |
A |
16: 48,108,247 (GRCm39) |
A11T |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,114,867 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
G |
9: 15,907,440 (GRCm39) |
L2854P |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,340 (GRCm39) |
S61P |
possibly damaging |
Het |
| Fyb2 |
A |
T |
4: 104,867,656 (GRCm39) |
D669V |
probably benign |
Het |
| Herc2 |
G |
T |
7: 55,862,574 (GRCm39) |
C4081F |
probably damaging |
Het |
| Hexim1 |
T |
C |
11: 103,008,091 (GRCm39) |
L115P |
probably benign |
Het |
| Kat2a |
T |
G |
11: 100,602,967 (GRCm39) |
Q88H |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,906,977 (GRCm39) |
Y1581C |
probably damaging |
Het |
| Ltbp4 |
T |
G |
7: 27,028,188 (GRCm39) |
D323A |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,581,876 (GRCm39) |
I115K |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,209,562 (GRCm39) |
D271G |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,092,907 (GRCm39) |
V77D |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha5 |
T |
C |
18: 37,093,925 (GRCm39) |
S145P |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,501,046 (GRCm39) |
E104G |
probably benign |
Het |
| Rho |
T |
C |
6: 115,910,854 (GRCm39) |
I133T |
possibly damaging |
Het |
| Sall3 |
G |
T |
18: 81,014,721 (GRCm39) |
T997K |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,908,896 (GRCm39) |
|
probably null |
Het |
| Sfxn1 |
T |
A |
13: 54,260,583 (GRCm39) |
H310Q |
probably benign |
Het |
| Slc25a18 |
A |
G |
6: 120,765,215 (GRCm39) |
D92G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,689,523 (GRCm39) |
I490T |
probably benign |
Het |
| Terf1 |
T |
C |
1: 15,908,460 (GRCm39) |
V351A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,087,451 (GRCm39) |
|
probably null |
Het |
| Trgj2 |
A |
G |
13: 19,495,426 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,824,220 (GRCm39) |
C1078S |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,375,993 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
C |
2: 174,299,187 (GRCm39) |
T290P |
probably damaging |
Het |
| Ugt2b35 |
G |
T |
5: 87,155,247 (GRCm39) |
D361Y |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,337,446 (GRCm39) |
S368P |
probably damaging |
Het |
|
| Other mutations in Clrn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Clrn1
|
APN |
3 |
58,792,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03184:Clrn1
|
APN |
3 |
58,753,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03187:Clrn1
|
APN |
3 |
58,753,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Clrn1
|
UTSW |
3 |
58,753,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Clrn1
|
UTSW |
3 |
58,753,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1055:Clrn1
|
UTSW |
3 |
58,772,531 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2301:Clrn1
|
UTSW |
3 |
58,753,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Clrn1
|
UTSW |
3 |
58,792,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Clrn1
|
UTSW |
3 |
58,753,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Clrn1
|
UTSW |
3 |
58,753,783 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6393:Clrn1
|
UTSW |
3 |
58,753,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Clrn1
|
UTSW |
3 |
58,753,755 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8824:Clrn1
|
UTSW |
3 |
58,792,314 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9342:Clrn1
|
UTSW |
3 |
58,792,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9681:Clrn1
|
UTSW |
3 |
58,792,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCGTATCAGGAGCCCATTC -3'
(R):5'- TCTTAGTCACAGCAATTTCCCAAG -3'
Sequencing Primer
(F):5'- GGCATAGGTCCCTTCTTT -3'
(R):5'- TGAGAATCAAGCTCATGACTGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation