Incidental Mutation 'R2394:Htr3a'
| ID |
247914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr3a
|
| Ensembl Gene |
ENSMUSG00000032269 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 3A |
| Synonyms |
5-HT3 receptor |
| MMRRC Submission |
040362-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
48810513-48822399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48817643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003826]
[ENSMUST00000217289]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003826
AA Change: V110A
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003826
Gene: ENSMUSG00000032269
AA Change: V110A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
40 |
247 |
4.7e-57 |
PFAM |
|
Pfam:Neur_chan_memb
|
254 |
480 |
1.8e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216896
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217289
AA Change: V110A
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display a decreased lifespan, cachexia, increased blood urea nitrogen, proteinuria, kidney inflammation, and a hyperdistended and neurogenic urinary bladder. Mice homozygous for a second null mutation display reduced chemical pain persistence responses but are otherwise healthy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
| Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
| Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
| Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
| Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
| Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
| Other mutations in Htr3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02314:Htr3a
|
APN |
9 |
48,815,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0238:Htr3a
|
UTSW |
9 |
48,817,686 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0238:Htr3a
|
UTSW |
9 |
48,817,686 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0403:Htr3a
|
UTSW |
9 |
48,819,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0899:Htr3a
|
UTSW |
9 |
48,812,752 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1749:Htr3a
|
UTSW |
9 |
48,812,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Htr3a
|
UTSW |
9 |
48,817,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Htr3a
|
UTSW |
9 |
48,819,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Htr3a
|
UTSW |
9 |
48,819,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Htr3a
|
UTSW |
9 |
48,812,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Htr3a
|
UTSW |
9 |
48,818,688 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6042:Htr3a
|
UTSW |
9 |
48,815,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6395:Htr3a
|
UTSW |
9 |
48,811,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6407:Htr3a
|
UTSW |
9 |
48,812,355 (GRCm39) |
nonsense |
probably null |
|
|
R7791:Htr3a
|
UTSW |
9 |
48,812,875 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8724:Htr3a
|
UTSW |
9 |
48,815,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9049:Htr3a
|
UTSW |
9 |
48,811,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTTGTAGCATCCGGTAC -3'
(R):5'- TGCGTCAACACCCAGATTTCC -3'
Sequencing Primer
(F):5'- CAGAGAATTGCATAAAGGAGAGCTTG -3'
(R):5'- AGATTTCCCCCTAGAAGGTGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation