Incidental Mutation 'R5430:Chrna3'
| ID |
427135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrna3
|
| Ensembl Gene |
ENSMUSG00000032303 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 3 |
| Synonyms |
Acra3, Acra-3, A730007P14Rik, (a)3, neuronal nicotinic acetylcholine receptor, alpha 3 subunit, alpha 3 |
| MMRRC Submission |
042996-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
R5430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54917401-54933846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54920192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 470
(V470I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034851]
[ENSMUST00000214204]
|
| AlphaFold |
Q8R4G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034851
AA Change: V470I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
AA Change: V470I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
34 |
240 |
6.1e-77 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
494 |
7.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214204
|
| Meta Mutation Damage Score |
0.2633 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
96% (54/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation show high postnatal and postweaning mortality. Mutants show reduced bladder contractility resulting in enlarged bladder, infections and urinary stones. Eyes are small, with dilated ocular pupils. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
A |
9: 39,963,587 (GRCm39) |
|
noncoding transcript |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,611,732 (GRCm39) |
|
probably null |
Het |
| Brsk1 |
T |
C |
7: 4,713,435 (GRCm39) |
F702L |
probably benign |
Het |
| Cpm |
A |
G |
10: 117,511,986 (GRCm39) |
Q310R |
possibly damaging |
Het |
| Dennd5a |
T |
C |
7: 109,533,447 (GRCm39) |
T108A |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,342,481 (GRCm39) |
R145W |
probably damaging |
Het |
| E4f1 |
G |
A |
17: 24,663,944 (GRCm39) |
A532V |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,550 (GRCm39) |
T147A |
probably damaging |
Het |
| Eipr1 |
A |
T |
12: 28,913,015 (GRCm39) |
N239Y |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,760,417 (GRCm39) |
I1777M |
probably damaging |
Het |
| Gm11787 |
A |
T |
4: 3,512,786 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
C |
3: 108,005,716 (GRCm39) |
L227P |
probably damaging |
Het |
| H2-T15 |
C |
T |
17: 36,366,967 (GRCm39) |
V359I |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,943,626 (GRCm39) |
H190R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,126,276 (GRCm39) |
W570R |
possibly damaging |
Het |
| Lmbrd1 |
A |
G |
1: 24,732,061 (GRCm39) |
T93A |
possibly damaging |
Het |
| Lrch4 |
T |
C |
5: 137,636,795 (GRCm39) |
S433P |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,376,930 (GRCm39) |
R4216W |
probably damaging |
Het |
| Magohb |
A |
G |
6: 131,266,381 (GRCm39) |
Y42H |
probably damaging |
Het |
| Melk |
A |
G |
4: 44,309,033 (GRCm39) |
H130R |
probably damaging |
Het |
| Mettl24 |
G |
T |
10: 40,613,780 (GRCm39) |
R173L |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,960,044 (GRCm39) |
H73Q |
probably damaging |
Het |
| Mylk2 |
A |
T |
2: 152,759,468 (GRCm39) |
E386V |
probably damaging |
Het |
| Nppb |
C |
T |
4: 148,070,838 (GRCm39) |
P71L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,945,208 (GRCm39) |
V272A |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,215,304 (GRCm39) |
I289N |
probably damaging |
Het |
| Or2t6 |
C |
T |
14: 14,175,692 (GRCm38) |
R130H |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,257 (GRCm39) |
I35F |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,416,482 (GRCm39) |
S628P |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,775,843 (GRCm39) |
V253A |
probably damaging |
Het |
| Pex12 |
T |
C |
11: 83,188,572 (GRCm39) |
D141G |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,501,871 (GRCm39) |
C97* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,554,046 (GRCm39) |
E807V |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,615,730 (GRCm39) |
T385S |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,938 (GRCm39) |
Y48C |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,220,959 (GRCm39) |
I200T |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,665,776 (GRCm39) |
V758A |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,463 (GRCm39) |
M190V |
possibly damaging |
Het |
| Syt3 |
T |
G |
7: 44,040,337 (GRCm39) |
L190R |
possibly damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,246,246 (GRCm39) |
D255E |
probably benign |
Het |
| Ttbk2 |
C |
T |
2: 120,608,046 (GRCm39) |
R191H |
probably damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,521 (GRCm39) |
L298M |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,486,333 (GRCm39) |
Y318* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,196 (GRCm39) |
I24T |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,064,643 (GRCm39) |
T166I |
possibly damaging |
Het |
| Zfp354c |
A |
G |
11: 50,706,022 (GRCm39) |
I351T |
probably benign |
Het |
| Zfp52 |
A |
G |
17: 21,775,329 (GRCm39) |
T8A |
probably benign |
Het |
|
| Other mutations in Chrna3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02469:Chrna3
|
APN |
9 |
54,923,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02484:Chrna3
|
APN |
9 |
54,922,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Chrna3
|
UTSW |
9 |
54,929,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Chrna3
|
UTSW |
9 |
54,923,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0557:Chrna3
|
UTSW |
9 |
54,923,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Chrna3
|
UTSW |
9 |
54,922,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Chrna3
|
UTSW |
9 |
54,923,192 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1750:Chrna3
|
UTSW |
9 |
54,923,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Chrna3
|
UTSW |
9 |
54,923,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2989:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3114:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Chrna3
|
UTSW |
9 |
54,931,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3732:Chrna3
|
UTSW |
9 |
54,923,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3732:Chrna3
|
UTSW |
9 |
54,923,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3733:Chrna3
|
UTSW |
9 |
54,923,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4758:Chrna3
|
UTSW |
9 |
54,929,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Chrna3
|
UTSW |
9 |
54,922,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5795:Chrna3
|
UTSW |
9 |
54,922,552 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6546:Chrna3
|
UTSW |
9 |
54,923,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6806:Chrna3
|
UTSW |
9 |
54,923,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Chrna3
|
UTSW |
9 |
54,922,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7703:Chrna3
|
UTSW |
9 |
54,923,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8053:Chrna3
|
UTSW |
9 |
54,922,674 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8762:Chrna3
|
UTSW |
9 |
54,922,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Chrna3
|
UTSW |
9 |
54,933,671 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATTGAGAAAGTGCCCTTG -3'
(R):5'- CTGTTTCTCCACTACATGAAACTTG -3'
Sequencing Primer
(F):5'- GCATCAGCACAGGTGAGC -3'
(R):5'- TGCTCCAGGGAAAATGGTCCATC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation