Incidental Mutation 'IGL00946:Htr2a'
ID |
28958 |
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: 0.076)
|
Stock # |
IGL00946
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
74878314-74944299 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 74943582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 387
(Y387*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036653]
|
AlphaFold |
P35363 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036653
AA Change: Y387*
|
SMART Domains |
Protein: ENSMUSP00000047774 Gene: ENSMUSG00000034997 AA Change: Y387*
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
T |
C |
4: 132,790,373 (GRCm39) |
I538T |
probably benign |
Het |
Bmp10 |
A |
T |
6: 87,411,344 (GRCm39) |
Q379L |
probably damaging |
Het |
Cacna2d4 |
G |
A |
6: 119,248,876 (GRCm39) |
A446T |
possibly damaging |
Het |
Chrdl1 |
G |
A |
X: 142,077,164 (GRCm39) |
|
probably benign |
Het |
Crtc2 |
A |
G |
3: 90,168,112 (GRCm39) |
H370R |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,461,434 (GRCm39) |
T698A |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,472,534 (GRCm39) |
T593A |
possibly damaging |
Het |
Dus1l |
T |
C |
11: 120,684,701 (GRCm39) |
T157A |
probably damaging |
Het |
Efcab6 |
T |
C |
15: 83,902,897 (GRCm39) |
N151S |
probably benign |
Het |
Eif2b5 |
T |
A |
16: 20,324,002 (GRCm39) |
H448Q |
probably benign |
Het |
Epha8 |
T |
C |
4: 136,673,121 (GRCm39) |
D221G |
probably damaging |
Het |
Eprs1 |
G |
A |
1: 185,139,898 (GRCm39) |
G996S |
probably benign |
Het |
Fn1 |
G |
A |
1: 71,684,699 (GRCm39) |
|
probably benign |
Het |
Gfpt1 |
A |
G |
6: 87,027,924 (GRCm39) |
Y10C |
probably damaging |
Het |
Ghitm |
C |
T |
14: 36,847,203 (GRCm39) |
M290I |
probably benign |
Het |
Gpd2 |
T |
C |
2: 57,158,096 (GRCm39) |
|
probably null |
Het |
Lrrc7 |
T |
A |
3: 157,866,993 (GRCm39) |
Q916L |
probably benign |
Het |
Mfsd9 |
A |
C |
1: 40,812,940 (GRCm39) |
D458E |
probably benign |
Het |
Nmb |
T |
C |
7: 80,552,208 (GRCm39) |
I123M |
probably benign |
Het |
Nrap |
A |
T |
19: 56,329,058 (GRCm39) |
|
probably null |
Het |
Or10j7 |
A |
T |
1: 173,011,190 (GRCm39) |
D270E |
probably benign |
Het |
Or4d5 |
A |
G |
9: 40,012,450 (GRCm39) |
I112T |
probably benign |
Het |
Or4k49 |
T |
A |
2: 111,495,489 (GRCm39) |
M306K |
probably benign |
Het |
Pola1 |
T |
C |
X: 92,524,145 (GRCm39) |
I1165M |
probably benign |
Het |
Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
Selenon |
T |
A |
4: 134,267,037 (GRCm39) |
|
probably benign |
Het |
Stk39 |
T |
A |
2: 68,144,908 (GRCm39) |
T389S |
possibly damaging |
Het |
Tmx3 |
A |
G |
18: 90,558,178 (GRCm39) |
E410G |
possibly damaging |
Het |
Utp20 |
A |
T |
10: 88,584,177 (GRCm39) |
V2660E |
possibly damaging |
Het |
Vps52 |
T |
C |
17: 34,175,932 (GRCm39) |
L40P |
possibly damaging |
Het |
Wdr25 |
C |
T |
12: 108,990,953 (GRCm39) |
S380F |
possibly damaging |
Het |
Xpo7 |
T |
C |
14: 70,909,098 (GRCm39) |
T808A |
probably benign |
Het |
Zc3h14 |
T |
C |
12: 98,726,142 (GRCm39) |
|
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 |
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 |
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 |
2013-04-17 |