Incidental Mutation 'R2386:Canx'
| ID |
247703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Canx
|
| Ensembl Gene |
ENSMUSG00000020368 |
| Gene Name |
calnexin |
| Synonyms |
CNX, 1110069N15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R2386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
50184788-50216500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50187933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 558
(D558E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020637]
[ENSMUST00000059458]
[ENSMUST00000179865]
|
| AlphaFold |
P35564 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020637
AA Change: D558E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: D558E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Calreticulin
|
72 |
441 |
1.7e-170 |
PFAM |
|
transmembrane domain
|
484 |
506 |
N/A |
INTRINSIC |
|
coiled coil region
|
525 |
560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059458
|
| SMART Domains |
Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
| Domain | Start | End | E-Value | Type |
|---|
|
MamL-1
|
14 |
73 |
1.04e-32 |
SMART |
|
low complexity region
|
77 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
600 |
N/A |
INTRINSIC |
|
coiled coil region
|
627 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179865
AA Change: D558E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: D558E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Calreticulin
|
70 |
441 |
4.7e-166 |
PFAM |
|
transmembrane domain
|
484 |
506 |
N/A |
INTRINSIC |
|
coiled coil region
|
525 |
560 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit motor defects, loss of large myelinated nerve fibers, small size, and very high mortality between birth and 4 weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,328,575 (GRCm39) |
D2G |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Col1a1 |
A |
T |
11: 94,841,217 (GRCm39) |
D1200V |
unknown |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
T |
C |
13: 55,315,714 (GRCm39) |
V747A |
probably benign |
Het |
| Ftcd |
A |
C |
10: 76,417,211 (GRCm39) |
D240A |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,039 (GRCm39) |
E363* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,225 (GRCm39) |
D214E |
probably benign |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
Het |
|
| Other mutations in Canx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00675:Canx
|
APN |
11 |
50,191,823 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03089:Canx
|
APN |
11 |
50,195,309 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1428:Canx
|
UTSW |
11 |
50,199,221 (GRCm39) |
splice site |
probably benign |
|
|
R1876:Canx
|
UTSW |
11 |
50,195,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Canx
|
UTSW |
11 |
50,195,252 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2058:Canx
|
UTSW |
11 |
50,195,252 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2088:Canx
|
UTSW |
11 |
50,201,217 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2126:Canx
|
UTSW |
11 |
50,195,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Canx
|
UTSW |
11 |
50,201,694 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2218:Canx
|
UTSW |
11 |
50,201,694 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3716:Canx
|
UTSW |
11 |
50,195,301 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3957:Canx
|
UTSW |
11 |
50,199,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4019:Canx
|
UTSW |
11 |
50,190,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Canx
|
UTSW |
11 |
50,195,265 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4825:Canx
|
UTSW |
11 |
50,199,636 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5252:Canx
|
UTSW |
11 |
50,199,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Canx
|
UTSW |
11 |
50,192,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Canx
|
UTSW |
11 |
50,191,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5820:Canx
|
UTSW |
11 |
50,199,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Canx
|
UTSW |
11 |
50,187,946 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7259:Canx
|
UTSW |
11 |
50,192,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7603:Canx
|
UTSW |
11 |
50,202,455 (GRCm39) |
missense |
probably benign |
|
|
R7715:Canx
|
UTSW |
11 |
50,201,631 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7735:Canx
|
UTSW |
11 |
50,191,866 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8063:Canx
|
UTSW |
11 |
50,199,173 (GRCm39) |
nonsense |
probably null |
|
|
R8069:Canx
|
UTSW |
11 |
50,202,531 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8494:Canx
|
UTSW |
11 |
50,202,609 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8508:Canx
|
UTSW |
11 |
50,202,474 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8941:Canx
|
UTSW |
11 |
50,195,270 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9153:Canx
|
UTSW |
11 |
50,188,162 (GRCm39) |
missense |
probably benign |
|
|
R9722:Canx
|
UTSW |
11 |
50,195,301 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAACATGTACTTTCCCTAAACCT -3'
(R):5'- GTGAGCGGAGTCTAGAAACCT -3'
Sequencing Primer
(F):5'- CTGAGAATTGAATCCAGGTGCTC -3'
(R):5'- GCGGAGTCTAGAAACCTGTCATAAAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation