Incidental Mutation 'R6937:Chrna6'
| ID |
540344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrna6
|
| Ensembl Gene |
ENSMUSG00000031491 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 6 |
| Synonyms |
alpha6 nAChR, Acra6 |
| MMRRC Submission |
045051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27893240-27903972 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27897055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 274
(L274P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033882]
|
| AlphaFold |
Q9R0W9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033882
AA Change: L274P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491
AA Change: L274P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
34 |
240 |
1.7e-78 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
483 |
1.2e-89 |
PFAM |
|
| Meta Mutation Damage Score |
0.9474 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homzygous mutant animals have decreased numbers of high affinity binding sites for [3H]nicotine, [3H]epibaditine, and [3H]cytisine in the terminal region of the retinal ganglion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd52 |
T |
C |
10: 128,222,889 (GRCm39) |
V613A |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,322,893 (GRCm39) |
L337Q |
probably damaging |
Het |
| Ciita |
G |
A |
16: 10,330,355 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
A |
T |
16: 64,299,058 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,490,103 (GRCm39) |
D1691N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,280 (GRCm39) |
I1441T |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,884,634 (GRCm39) |
S1713P |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,859,018 (GRCm39) |
|
probably benign |
Het |
| Epn1 |
T |
C |
7: 5,092,943 (GRCm39) |
I85T |
probably damaging |
Het |
| Eri2 |
T |
C |
7: 119,386,012 (GRCm39) |
K228E |
probably damaging |
Het |
| Garem1 |
C |
T |
18: 21,280,827 (GRCm39) |
A510T |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,299,572 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
T |
C |
5: 100,111,629 (GRCm39) |
T321A |
probably benign |
Het |
| Htr2a |
A |
T |
14: 74,882,604 (GRCm39) |
I197F |
probably damaging |
Het |
| Krtap2-4 |
T |
A |
11: 99,505,299 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
C |
A |
2: 25,657,823 (GRCm39) |
Y179* |
probably null |
Het |
| Mak |
A |
T |
13: 41,201,578 (GRCm39) |
M261K |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,071,310 (GRCm39) |
T605A |
probably damaging |
Het |
| Mcm4 |
A |
C |
16: 15,454,199 (GRCm39) |
F83V |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,950,258 (GRCm39) |
N1546S |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,339,060 (GRCm39) |
K989N |
probably damaging |
Het |
| Ndufaf5 |
A |
G |
2: 140,023,522 (GRCm39) |
D119G |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,271,985 (GRCm39) |
V222D |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,336,528 (GRCm39) |
T36A |
possibly damaging |
Het |
| Pitpna |
C |
T |
11: 75,494,557 (GRCm39) |
T100I |
possibly damaging |
Het |
| Pmf1 |
A |
T |
3: 88,306,496 (GRCm39) |
L102Q |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,341,176 (GRCm39) |
L10P |
probably benign |
Het |
| Serpinb6a |
T |
C |
13: 34,102,801 (GRCm39) |
I241V |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,040,956 (GRCm39) |
|
probably null |
Het |
| Stat6 |
T |
C |
10: 127,494,571 (GRCm39) |
|
probably null |
Het |
| Tdpoz6 |
T |
C |
3: 93,599,523 (GRCm39) |
N282S |
probably benign |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,417 (GRCm39) |
H145R |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,091,064 (GRCm39) |
V687E |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,132,634 (GRCm39) |
S68T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,663,253 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,292,158 (GRCm39) |
D97V |
probably benign |
Het |
| Ugt8a |
G |
A |
3: 125,709,250 (GRCm39) |
|
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,750 (GRCm39) |
K165N |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,523 (GRCm39) |
I523F |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,444,311 (GRCm39) |
V588I |
probably benign |
Het |
| Wdr7 |
C |
T |
18: 63,924,938 (GRCm39) |
P974S |
probably benign |
Het |
| Zfp975 |
T |
C |
7: 42,314,480 (GRCm39) |
D31G |
possibly damaging |
Het |
|
| Other mutations in Chrna6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Chrna6
|
APN |
8 |
27,896,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Chrna6
|
APN |
8 |
27,897,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02067:Chrna6
|
APN |
8 |
27,894,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Chrna6
|
APN |
8 |
27,896,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03011:Chrna6
|
APN |
8 |
27,903,682 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0087:Chrna6
|
UTSW |
8 |
27,897,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Chrna6
|
UTSW |
8 |
27,898,415 (GRCm39) |
missense |
probably null |
0.98 |
|
R0786:Chrna6
|
UTSW |
8 |
27,898,408 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1784:Chrna6
|
UTSW |
8 |
27,896,812 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1834:Chrna6
|
UTSW |
8 |
27,897,242 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2087:Chrna6
|
UTSW |
8 |
27,897,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4545:Chrna6
|
UTSW |
8 |
27,896,711 (GRCm39) |
missense |
probably benign |
|
|
R4785:Chrna6
|
UTSW |
8 |
27,897,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Chrna6
|
UTSW |
8 |
27,897,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6002:Chrna6
|
UTSW |
8 |
27,896,774 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6834:Chrna6
|
UTSW |
8 |
27,898,338 (GRCm39) |
splice site |
probably null |
|
|
R6968:Chrna6
|
UTSW |
8 |
27,896,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7303:Chrna6
|
UTSW |
8 |
27,897,019 (GRCm39) |
nonsense |
probably null |
|
|
R7319:Chrna6
|
UTSW |
8 |
27,896,815 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7775:Chrna6
|
UTSW |
8 |
27,897,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Chrna6
|
UTSW |
8 |
27,897,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Chrna6
|
UTSW |
8 |
27,897,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Chrna6
|
UTSW |
8 |
27,897,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8100:Chrna6
|
UTSW |
8 |
27,903,844 (GRCm39) |
start gained |
probably benign |
|
|
R8292:Chrna6
|
UTSW |
8 |
27,896,754 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8696:Chrna6
|
UTSW |
8 |
27,897,195 (GRCm39) |
nonsense |
probably null |
|
|
R8754:Chrna6
|
UTSW |
8 |
27,897,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Chrna6
|
UTSW |
8 |
27,896,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9041:Chrna6
|
UTSW |
8 |
27,896,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Chrna6
|
UTSW |
8 |
27,903,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGGTCTTCACCCACTTGG -3'
(R):5'- GCCTCTGGCTATAAGCATGACATC -3'
Sequencing Primer
(F):5'- ATGCGTTGCTGGGGTCC -3'
(R):5'- GCATGACATCAAGTACAACTGCTGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation