Incidental Mutation 'IGL01660:Htr2a'
ID |
103136 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Htr2a
|
Ensembl Gene |
ENSMUSG00000034997 |
Gene Name |
5-hydroxytryptamine (serotonin) receptor 2A |
Synonyms |
Htr-2, 5-HT2A receptor, Htr2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL01660
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
74878314-74944299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 74943194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 258
(I258N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036653]
|
AlphaFold |
P35363 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036653
AA Change: I258N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047774 Gene: ENSMUSG00000034997 AA Change: I258N
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
A |
G |
19: 34,229,191 (GRCm39) |
I66T |
probably damaging |
Het |
Actl11 |
T |
C |
9: 107,806,247 (GRCm39) |
V190A |
probably benign |
Het |
Ankub1 |
T |
A |
3: 57,597,817 (GRCm39) |
Y51F |
possibly damaging |
Het |
Armh3 |
A |
T |
19: 45,928,915 (GRCm39) |
L393H |
probably damaging |
Het |
Ccdc63 |
G |
A |
5: 122,249,027 (GRCm39) |
S434L |
possibly damaging |
Het |
Cdan1 |
T |
A |
2: 120,556,134 (GRCm39) |
I711F |
possibly damaging |
Het |
Cep170b |
C |
A |
12: 112,710,594 (GRCm39) |
N1474K |
probably damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,775,254 (GRCm39) |
S333P |
probably damaging |
Het |
Dars1 |
A |
G |
1: 128,343,081 (GRCm39) |
|
probably benign |
Het |
Dock3 |
T |
A |
9: 106,909,563 (GRCm39) |
|
probably benign |
Het |
Dsp |
A |
G |
13: 38,360,471 (GRCm39) |
I359V |
possibly damaging |
Het |
Fut8 |
T |
G |
12: 77,497,032 (GRCm39) |
L414* |
probably null |
Het |
Gja1 |
A |
G |
10: 56,264,544 (GRCm39) |
Y301C |
probably damaging |
Het |
Glipr1l1 |
T |
C |
10: 111,908,184 (GRCm39) |
S161P |
probably damaging |
Het |
Gpat4 |
A |
T |
8: 23,665,354 (GRCm39) |
|
probably null |
Het |
Grhl1 |
T |
A |
12: 24,658,577 (GRCm39) |
|
probably null |
Het |
Hectd3 |
T |
C |
4: 116,853,569 (GRCm39) |
V181A |
possibly damaging |
Het |
Hyou1 |
T |
A |
9: 44,292,414 (GRCm39) |
D83E |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,676,715 (GRCm39) |
L862Q |
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,027,833 (GRCm39) |
S36G |
probably benign |
Het |
Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,259,308 (GRCm39) |
V362A |
probably benign |
Het |
Nyap2 |
G |
A |
1: 81,169,642 (GRCm39) |
C133Y |
probably damaging |
Het |
Oas2 |
T |
C |
5: 120,879,288 (GRCm39) |
T351A |
probably benign |
Het |
Or11m3 |
C |
T |
15: 98,396,076 (GRCm39) |
T241I |
probably damaging |
Het |
Or5m13 |
T |
C |
2: 85,748,908 (GRCm39) |
I213T |
probably benign |
Het |
Pde4d |
A |
T |
13: 110,074,606 (GRCm39) |
I404F |
probably damaging |
Het |
Pga5 |
A |
G |
19: 10,652,456 (GRCm39) |
S95P |
probably damaging |
Het |
Pitpnm2 |
A |
T |
5: 124,261,257 (GRCm39) |
D947E |
probably damaging |
Het |
Pla2g10 |
C |
T |
16: 13,545,950 (GRCm39) |
R28H |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,317,676 (GRCm39) |
D84G |
probably damaging |
Het |
Rbm15b |
C |
T |
9: 106,762,908 (GRCm39) |
G420D |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,496,153 (GRCm39) |
T1063A |
probably benign |
Het |
Tmc2 |
C |
T |
2: 130,102,144 (GRCm39) |
Q770* |
probably null |
Het |
Tpo |
T |
C |
12: 30,169,399 (GRCm39) |
|
probably benign |
Het |
Vim |
A |
G |
2: 13,579,624 (GRCm39) |
N128D |
probably damaging |
Het |
Vmn1r21 |
A |
T |
6: 57,821,222 (GRCm39) |
I74N |
probably damaging |
Het |
Vmn2r52 |
A |
C |
7: 9,893,107 (GRCm39) |
I677M |
probably damaging |
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 |
|
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 |
R3401:Htr2a
|
UTSW |
14 |
74,882,499 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-01-21 |