Incidental Mutation 'R0368:Chrnb1'
| ID |
30331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrnb1
|
| Ensembl Gene |
ENSMUSG00000041189 |
| Gene Name |
cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) |
| Synonyms |
AChR beta, Acrb, Achr-2 |
| MMRRC Submission |
038574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
R0368 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69784036-69795943 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69784757 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 457
(K457M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045971]
[ENSMUST00000108639]
[ENSMUST00000108640]
[ENSMUST00000108642]
|
| AlphaFold |
P09690 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045971
AA Change: K457M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: K457M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
27 |
245 |
3.6e-65 |
PFAM |
|
Pfam:Neur_chan_memb
|
252 |
487 |
3.5e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108639
|
| SMART Domains |
Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
166 |
2e-15 |
SMART |
|
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
|
ZnF_C2H2
|
341 |
364 |
5.81e-2 |
SMART |
|
low complexity region
|
422 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
|
coiled coil region
|
601 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
673 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
700 |
722 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
739 |
761 |
6.23e-2 |
SMART |
|
low complexity region
|
799 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108640
|
| SMART Domains |
Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
166 |
2e-15 |
SMART |
|
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
|
ZnF_C2H2
|
341 |
364 |
5.81e-2 |
SMART |
|
low complexity region
|
422 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
|
coiled coil region
|
601 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
673 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
700 |
722 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
739 |
761 |
6.23e-2 |
SMART |
|
low complexity region
|
799 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108642
|
| SMART Domains |
Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
166 |
2e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele lack all tyrosine residues in the beta subunit intracellular loop, display reduced and simplified neuromuscular junctions, and show defective acetylcholine receptor clustering and anchoring at synapses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
T |
19: 9,008,350 (GRCm38) |
K2333* |
probably null |
Het |
| Aox4 |
C |
T |
1: 58,213,079 (GRCm38) |
L38F |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,954,693 (GRCm38) |
E111G |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 59,860,212 (GRCm38) |
I789N |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,700,347 (GRCm38) |
S286P |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,980,261 (GRCm38) |
I61V |
possibly damaging |
Het |
| Cyb5r3 |
G |
A |
15: 83,158,792 (GRCm38) |
A233V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,525,377 (GRCm38) |
L278* |
probably null |
Het |
| Dnmt1 |
T |
C |
9: 20,941,757 (GRCm38) |
E56G |
probably damaging |
Het |
| Fam160b1 |
A |
G |
19: 57,368,578 (GRCm38) |
T34A |
possibly damaging |
Het |
| Fam166a |
T |
A |
2: 25,220,673 (GRCm38) |
D164E |
probably benign |
Het |
| Fbln5 |
A |
G |
12: 101,809,714 (GRCm38) |
|
probably null |
Het |
| G3bp1 |
T |
C |
11: 55,498,626 (GRCm38) |
F383L |
probably damaging |
Het |
| Gabrr3 |
A |
G |
16: 59,440,596 (GRCm38) |
D289G |
probably damaging |
Het |
| Gpr45 |
T |
C |
1: 43,033,016 (GRCm38) |
L273P |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,411,707 (GRCm38) |
E125G |
probably null |
Het |
| Il25 |
A |
G |
14: 54,935,174 (GRCm38) |
|
probably null |
Het |
| Itfg1 |
A |
T |
8: 85,764,407 (GRCm38) |
W298R |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,410,603 (GRCm38) |
K547* |
probably null |
Het |
| Lama5 |
G |
A |
2: 180,181,230 (GRCm38) |
R2748* |
probably null |
Het |
| Lrp4 |
C |
T |
2: 91,477,734 (GRCm38) |
T508I |
probably damaging |
Het |
| Map3k10 |
C |
T |
7: 27,663,360 (GRCm38) |
V434I |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 133,252,659 (GRCm38) |
M1265V |
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,231,682 (GRCm38) |
P350S |
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,888,825 (GRCm38) |
Y113F |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,161,782 (GRCm38) |
I582S |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,294,016 (GRCm38) |
S218P |
probably damaging |
Het |
| Olfr1281 |
T |
C |
2: 111,328,787 (GRCm38) |
Y123H |
probably damaging |
Het |
| Olfr1287 |
T |
C |
2: 111,449,788 (GRCm38) |
I216T |
probably benign |
Het |
| Olig1 |
C |
T |
16: 91,270,652 (GRCm38) |
S259F |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,066,932 (GRCm38) |
V499A |
probably damaging |
Het |
| Pafah2 |
T |
C |
4: 134,422,491 (GRCm38) |
V371A |
probably benign |
Het |
| Pkp1 |
T |
C |
1: 135,886,852 (GRCm38) |
S244G |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,875,683 (GRCm38) |
M712L |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,960 (GRCm38) |
T652A |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,298,890 (GRCm38) |
V108E |
probably damaging |
Het |
| Rab5b |
C |
T |
10: 128,682,903 (GRCm38) |
R120Q |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,301,246 (GRCm38) |
V227I |
probably benign |
Het |
| Sema5b |
T |
A |
16: 35,628,100 (GRCm38) |
V82E |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,290,045 (GRCm38) |
|
probably null |
Het |
| Slc13a2 |
A |
T |
11: 78,404,800 (GRCm38) |
L80* |
probably null |
Het |
| Slc1a5 |
C |
T |
7: 16,782,178 (GRCm38) |
P93L |
probably damaging |
Het |
| Slc35b2 |
T |
C |
17: 45,566,463 (GRCm38) |
V172A |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 83,017,132 (GRCm38) |
L195P |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,522,158 (GRCm38) |
S320N |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,993,915 (GRCm38) |
V589A |
probably benign |
Het |
| Stim2 |
G |
A |
5: 54,110,140 (GRCm38) |
|
probably null |
Het |
| V1ra8 |
A |
G |
6: 90,202,962 (GRCm38) |
D49G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 20,994,607 (GRCm38) |
V27D |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,065,827 (GRCm38) |
K196* |
probably null |
Het |
| Wdr77 |
T |
C |
3: 105,962,066 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Chrnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Chrnb1
|
APN |
11 |
69,793,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01924:Chrnb1
|
APN |
11 |
69,795,019 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01983:Chrnb1
|
APN |
11 |
69,795,729 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02100:Chrnb1
|
APN |
11 |
69,793,455 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02507:Chrnb1
|
APN |
11 |
69,785,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02814:Chrnb1
|
APN |
11 |
69,795,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02858:Chrnb1
|
APN |
11 |
69,785,109 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1728:Chrnb1
|
UTSW |
11 |
69,785,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1913:Chrnb1
|
UTSW |
11 |
69,793,584 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1930:Chrnb1
|
UTSW |
11 |
69,792,737 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2233:Chrnb1
|
UTSW |
11 |
69,795,602 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2234:Chrnb1
|
UTSW |
11 |
69,795,602 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3971:Chrnb1
|
UTSW |
11 |
69,792,916 (GRCm38) |
unclassified |
probably benign |
|
|
R4183:Chrnb1
|
UTSW |
11 |
69,787,096 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4425:Chrnb1
|
UTSW |
11 |
69,786,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Chrnb1
|
UTSW |
11 |
69,795,675 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R4983:Chrnb1
|
UTSW |
11 |
69,793,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5000:Chrnb1
|
UTSW |
11 |
69,787,032 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5378:Chrnb1
|
UTSW |
11 |
69,785,181 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5396:Chrnb1
|
UTSW |
11 |
69,794,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5540:Chrnb1
|
UTSW |
11 |
69,795,650 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5574:Chrnb1
|
UTSW |
11 |
69,793,683 (GRCm38) |
unclassified |
probably benign |
|
|
R5890:Chrnb1
|
UTSW |
11 |
69,792,729 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5973:Chrnb1
|
UTSW |
11 |
69,795,845 (GRCm38) |
unclassified |
probably benign |
|
|
R6056:Chrnb1
|
UTSW |
11 |
69,786,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7466:Chrnb1
|
UTSW |
11 |
69,784,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7633:Chrnb1
|
UTSW |
11 |
69,792,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7664:Chrnb1
|
UTSW |
11 |
69,787,024 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8266:Chrnb1
|
UTSW |
11 |
69,784,621 (GRCm38) |
makesense |
probably null |
|
|
R9124:Chrnb1
|
UTSW |
11 |
69,794,231 (GRCm38) |
missense |
probably benign |
0.31 |
|
Z1177:Chrnb1
|
UTSW |
11 |
69,794,189 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGCCTCCAAGTCTCACTTGAAC -3'
(R):5'- ATTTCCTCAATCAGCTACATGGCCC -3'
Sequencing Primer
(F):5'- GATTCTTACAAGCGCCAAGC -3'
(R):5'- TCCAAAGAGTCTGGAGCCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation