Incidental Mutation 'R9772:Clrn2'
| ID |
733478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clrn2
|
| Ensembl Gene |
ENSMUSG00000049530 |
| Gene Name |
clarin 2 |
| Synonyms |
EG624224, mpc169H |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
45611093-45621491 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 45611369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 73
(Q73*)
|
| 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: Q73*
|
| SMART Domains |
Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: Q73*
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
T |
2: 26,985,666 (GRCm39) |
I517F |
probably benign |
Het |
| Ankdd1a |
A |
G |
9: 65,408,749 (GRCm39) |
C506R |
probably damaging |
Het |
| Arid3c |
T |
C |
4: 41,724,723 (GRCm39) |
N371D |
probably damaging |
Het |
| Ccdc117 |
C |
T |
11: 5,492,042 (GRCm39) |
R6Q |
possibly damaging |
Het |
| Ccdc78 |
C |
T |
17: 26,005,665 (GRCm39) |
R26* |
probably null |
Het |
| Clca4a |
C |
A |
3: 144,676,422 (GRCm39) |
W86L |
probably damaging |
Het |
| Cpne6 |
A |
G |
14: 55,754,117 (GRCm39) |
D478G |
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,792,348 (GRCm39) |
I199L |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,786,522 (GRCm39) |
V90A |
probably benign |
Het |
| Dydc1 |
A |
G |
14: 40,804,248 (GRCm39) |
E90G |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,499,756 (GRCm39) |
S795T |
probably benign |
Het |
| Gm13090 |
G |
T |
4: 151,175,565 (GRCm39) |
A102S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,869,425 (GRCm39) |
S87P |
unknown |
Het |
| Mesp2 |
A |
G |
7: 79,461,348 (GRCm39) |
I224M |
possibly damaging |
Het |
| Mettl25 |
T |
C |
10: 105,633,127 (GRCm39) |
R439G |
probably benign |
Het |
| Mettl27 |
C |
T |
5: 134,962,390 (GRCm39) |
R63W |
possibly damaging |
Het |
| Nap1l1 |
C |
T |
10: 111,325,911 (GRCm39) |
R77* |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,795,868 (GRCm39) |
I48T |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,792,883 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
G |
11: 97,113,983 (GRCm39) |
I631T |
probably benign |
Het |
| Or4c105 |
G |
A |
2: 88,647,958 (GRCm39) |
V148I |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,964 (GRCm39) |
C241* |
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,093,138 (GRCm39) |
L210Q |
probably damaging |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,855 (GRCm39) |
I458F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,785 (GRCm39) |
E4347G |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,657,048 (GRCm39) |
I1911T |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,417 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sfr1 |
G |
T |
19: 47,722,019 (GRCm39) |
C145F |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,551,175 (GRCm39) |
Y230N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,818,849 (GRCm39) |
V89A |
|
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 56,990,765 (GRCm39) |
I671T |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,075 (GRCm39) |
V184I |
probably benign |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
C |
17: 78,932,398 (GRCm39) |
T502P |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,923 (GRCm39) |
G594R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATTAGTATGCCTGGATGGTTC -3'
(R):5'- GCTGTATAGGAGATACTGGCTGC -3'
Sequencing Primer
(F):5'- TACGGGCTGGCATCTCTAC -3'
(R):5'- GCCCCACAGACTTTGTAGTTATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation