Incidental Mutation 'R4236:Chrnb3'
| ID |
321125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrnb3
|
| Ensembl Gene |
ENSMUSG00000031492 |
| Gene Name |
cholinergic receptor, nicotinic, beta polypeptide 3 |
| Synonyms |
Acrb3, 5730417K16Rik |
| MMRRC Submission |
041053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4236 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27858739-27889758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27884021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 253
(L253M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060943]
[ENSMUST00000079463]
[ENSMUST00000211104]
|
| AlphaFold |
Q8BMN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060943
AA Change: L253M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492
AA Change: L253M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
35 |
239 |
2.3e-75 |
PFAM |
|
Pfam:Neur_chan_memb
|
246 |
452 |
1.9e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079463
AA Change: L238M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492
AA Change: L238M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
35 |
224 |
1.3e-57 |
PFAM |
|
Pfam:Neur_chan_memb
|
231 |
374 |
4.3e-48 |
PFAM |
|
Pfam:Neur_chan_memb
|
349 |
437 |
9.7e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211104
AA Change: L253M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2889 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display hyperactivity and reflex abnormalities but were otherwise phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,206,205 (GRCm39) |
K168N |
probably damaging |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cela1 |
T |
C |
15: 100,580,794 (GRCm39) |
Y91C |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,230,037 (GRCm39) |
G1493* |
probably null |
Het |
| Dnah7a |
C |
T |
1: 53,486,524 (GRCm39) |
E3346K |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,993,941 (GRCm39) |
S1845T |
probably benign |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,563,935 (GRCm39) |
D90V |
probably damaging |
Het |
| F2rl1 |
A |
G |
13: 95,649,796 (GRCm39) |
L362P |
probably damaging |
Het |
| Gal3st2c |
T |
C |
1: 93,936,463 (GRCm39) |
F136S |
probably damaging |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Klhl23 |
T |
C |
2: 69,654,516 (GRCm39) |
F129L |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,643,129 (GRCm39) |
T460A |
probably benign |
Het |
| Madd |
C |
T |
2: 90,997,373 (GRCm39) |
R746Q |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Myh6 |
T |
G |
14: 55,197,819 (GRCm39) |
M440L |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,228,575 (GRCm39) |
S205C |
probably benign |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,120,923 (GRCm39) |
T683A |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,540,047 (GRCm39) |
L1082Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,718,257 (GRCm39) |
V357A |
probably damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,987,580 (GRCm39) |
E709G |
probably benign |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tfcp2l1 |
G |
A |
1: 118,589,795 (GRCm39) |
R285H |
probably benign |
Het |
| Tmem132d |
A |
G |
5: 128,509,389 (GRCm39) |
S14P |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,298 (GRCm39) |
K360E |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,803 (GRCm39) |
V99A |
probably benign |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
Het |
|
| Other mutations in Chrnb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Chrnb3
|
APN |
8 |
27,875,129 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01655:Chrnb3
|
APN |
8 |
27,884,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02124:Chrnb3
|
APN |
8 |
27,886,832 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02403:Chrnb3
|
APN |
8 |
27,883,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02474:Chrnb3
|
APN |
8 |
27,883,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02903:Chrnb3
|
APN |
8 |
27,876,834 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0178:Chrnb3
|
UTSW |
8 |
27,883,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0736:Chrnb3
|
UTSW |
8 |
27,875,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1695:Chrnb3
|
UTSW |
8 |
27,883,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Chrnb3
|
UTSW |
8 |
27,876,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Chrnb3
|
UTSW |
8 |
27,884,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2313:Chrnb3
|
UTSW |
8 |
27,883,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3020:Chrnb3
|
UTSW |
8 |
27,886,812 (GRCm39) |
missense |
probably benign |
|
|
R3981:Chrnb3
|
UTSW |
8 |
27,884,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Chrnb3
|
UTSW |
8 |
27,883,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Chrnb3
|
UTSW |
8 |
27,886,761 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4515:Chrnb3
|
UTSW |
8 |
27,875,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Chrnb3
|
UTSW |
8 |
27,884,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Chrnb3
|
UTSW |
8 |
27,884,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5164:Chrnb3
|
UTSW |
8 |
27,884,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Chrnb3
|
UTSW |
8 |
27,883,355 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6454:Chrnb3
|
UTSW |
8 |
27,883,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Chrnb3
|
UTSW |
8 |
27,883,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8060:Chrnb3
|
UTSW |
8 |
27,884,588 (GRCm39) |
missense |
unknown |
|
|
R8156:Chrnb3
|
UTSW |
8 |
27,883,682 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8421:Chrnb3
|
UTSW |
8 |
27,886,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Chrnb3
|
UTSW |
8 |
27,883,946 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9244:Chrnb3
|
UTSW |
8 |
27,884,594 (GRCm39) |
missense |
unknown |
|
|
R9459:Chrnb3
|
UTSW |
8 |
27,883,884 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGTCGACCTCATTCTG -3'
(R):5'- CGTGACAATAATAGACAGCGTG -3'
Sequencing Primer
(F):5'- ATGGTCGACCTCATTCTGATCAATG -3'
(R):5'- AGACAGCGTGACAAATATCATAATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation