Incidental Mutation 'R3401:Htr2a'
ID |
259202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Htr2a
|
Ensembl Gene |
ENSMUSG00000034997 |
Gene Name |
5-hydroxytryptamine (serotonin) receptor 2A |
Synonyms |
Htr-2, 5-HT2A receptor, Htr2 |
MMRRC Submission |
040620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R3401 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
74878314-74944299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74882499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 162
(S162P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036653]
|
AlphaFold |
P35363 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036653
AA Change: S162P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047774 Gene: ENSMUSG00000034997 AA Change: S162P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
81 |
264 |
1.2e-9 |
PFAM |
Pfam:7TM_GPCR_Srx
|
82 |
289 |
1e-6 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
85 |
395 |
1.1e-16 |
PFAM |
Pfam:7tm_1
|
91 |
380 |
5.9e-70 |
PFAM |
|
Meta Mutation Damage Score |
0.9722 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (30/30) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] PHENOTYPE: Mice homozygous for a knock-out allele show altered anxiety-related responses and increased vertical activity. Mice homozygous for a different knock-out allele exhibit abnormal enterocyte, Paneth cell and smooth muscle morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
Cul5 |
A |
T |
9: 53,532,512 (GRCm39) |
M747K |
probably benign |
Het |
Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
Eif1ad |
T |
C |
19: 5,418,276 (GRCm39) |
V20A |
probably benign |
Het |
Faim2 |
C |
T |
15: 99,418,229 (GRCm39) |
V119I |
probably damaging |
Het |
Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zfp157 |
T |
A |
5: 138,455,273 (GRCm39) |
N490K |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
Het |
|
Other mutations in Htr2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00780:Htr2a
|
APN |
14 |
74,943,645 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL00946:Htr2a
|
APN |
14 |
74,943,582 (GRCm39) |
nonsense |
probably null |
|
IGL01660:Htr2a
|
APN |
14 |
74,943,194 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02200:Htr2a
|
APN |
14 |
74,943,605 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02369:Htr2a
|
APN |
14 |
74,943,722 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02724:Htr2a
|
APN |
14 |
74,882,502 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Htr2a
|
APN |
14 |
74,882,583 (GRCm39) |
missense |
probably benign |
0.05 |
R0038:Htr2a
|
UTSW |
14 |
74,943,687 (GRCm39) |
missense |
probably benign |
0.00 |
R0038:Htr2a
|
UTSW |
14 |
74,943,687 (GRCm39) |
missense |
probably benign |
0.00 |
R0117:Htr2a
|
UTSW |
14 |
74,882,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R0367:Htr2a
|
UTSW |
14 |
74,879,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Htr2a
|
UTSW |
14 |
74,943,764 (GRCm39) |
missense |
probably benign |
0.00 |
R0729:Htr2a
|
UTSW |
14 |
74,879,587 (GRCm39) |
missense |
probably benign |
|
R1507:Htr2a
|
UTSW |
14 |
74,943,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Htr2a
|
UTSW |
14 |
74,943,293 (GRCm39) |
nonsense |
probably null |
|
R1539:Htr2a
|
UTSW |
14 |
74,882,608 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1735:Htr2a
|
UTSW |
14 |
74,943,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R1747:Htr2a
|
UTSW |
14 |
74,943,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Htr2a
|
UTSW |
14 |
74,943,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Htr2a
|
UTSW |
14 |
74,882,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R2348:Htr2a
|
UTSW |
14 |
74,882,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R3154:Htr2a
|
UTSW |
14 |
74,943,262 (GRCm39) |
missense |
probably benign |
0.00 |
R4006:Htr2a
|
UTSW |
14 |
74,879,581 (GRCm39) |
missense |
probably benign |
|
R4007:Htr2a
|
UTSW |
14 |
74,879,581 (GRCm39) |
missense |
probably benign |
|
R4093:Htr2a
|
UTSW |
14 |
74,943,789 (GRCm39) |
missense |
probably benign |
|
R4094:Htr2a
|
UTSW |
14 |
74,943,789 (GRCm39) |
missense |
probably benign |
|
R4095:Htr2a
|
UTSW |
14 |
74,943,789 (GRCm39) |
missense |
probably benign |
|
R4502:Htr2a
|
UTSW |
14 |
74,879,428 (GRCm39) |
missense |
probably benign |
0.02 |
R4720:Htr2a
|
UTSW |
14 |
74,882,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R4932:Htr2a
|
UTSW |
14 |
74,879,462 (GRCm39) |
missense |
probably benign |
|
R5651:Htr2a
|
UTSW |
14 |
74,943,143 (GRCm39) |
missense |
probably damaging |
0.98 |
R5935:Htr2a
|
UTSW |
14 |
74,882,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Htr2a
|
UTSW |
14 |
74,882,474 (GRCm39) |
nonsense |
probably null |
|
R6937:Htr2a
|
UTSW |
14 |
74,882,604 (GRCm39) |
missense |
probably damaging |
0.98 |
R7138:Htr2a
|
UTSW |
14 |
74,943,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Htr2a
|
UTSW |
14 |
74,882,617 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9423:Htr2a
|
UTSW |
14 |
74,943,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAAGTCTCTTGTAGTTCCCTTGC -3'
(R):5'- AGCCATGTGGAACGTGTCTC -3'
Sequencing Primer
(F):5'- GTAGTTCCCTTGCCTGTCAC -3'
(R):5'- CGGGAAGGGACAGACTCTAGTTTC -3'
|
Posted On |
2015-01-23 |