Incidental Mutation 'R2348:Htr2a'
ID |
246039 |
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 |
040330-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R2348 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
74878314-74944299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74882550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 179
(N179Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036653]
|
AlphaFold |
P35363 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036653
AA Change: N179Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047774 Gene: ENSMUSG00000034997 AA Change: N179Y
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 |
0.6305 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (31/31) |
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 |
Adcyap1 |
A |
G |
17: 93,509,702 (GRCm39) |
D51G |
possibly damaging |
Het |
Ano3 |
A |
G |
2: 110,614,088 (GRCm39) |
I205T |
possibly damaging |
Het |
Arhgap10 |
A |
T |
8: 78,177,555 (GRCm39) |
|
probably benign |
Het |
Asb18 |
T |
G |
1: 89,942,256 (GRCm39) |
D15A |
probably damaging |
Het |
Atm |
C |
A |
9: 53,403,568 (GRCm39) |
S1368I |
possibly damaging |
Het |
Atp9a |
A |
T |
2: 168,552,746 (GRCm39) |
|
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,062,573 (GRCm39) |
V653A |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,917,017 (GRCm39) |
S304T |
probably benign |
Het |
Dennd4c |
G |
A |
4: 86,729,764 (GRCm39) |
V789I |
probably benign |
Het |
Dlgap4 |
C |
A |
2: 156,543,126 (GRCm39) |
D176E |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,090,840 (GRCm39) |
T747A |
probably benign |
Het |
Ift52 |
T |
C |
2: 162,887,177 (GRCm39) |
V393A |
probably damaging |
Het |
Itch |
T |
C |
2: 155,050,998 (GRCm39) |
S562P |
possibly damaging |
Het |
Khdc4 |
T |
C |
3: 88,616,183 (GRCm39) |
S457P |
probably benign |
Het |
Kiss1r |
G |
T |
10: 79,757,654 (GRCm39) |
R336L |
probably benign |
Het |
Klra13-ps |
A |
T |
6: 130,268,271 (GRCm39) |
|
noncoding transcript |
Het |
Krt8 |
T |
C |
15: 101,907,300 (GRCm39) |
D261G |
probably benign |
Het |
Mycl |
A |
T |
4: 122,890,745 (GRCm39) |
T144S |
probably benign |
Het |
Naip5 |
C |
T |
13: 100,356,246 (GRCm39) |
R1123K |
probably benign |
Het |
Or5b122 |
A |
T |
19: 13,563,553 (GRCm39) |
E295V |
probably damaging |
Het |
Rasip1 |
T |
G |
7: 45,278,507 (GRCm39) |
|
probably null |
Het |
Rc3h1 |
C |
A |
1: 160,778,430 (GRCm39) |
R452S |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,651,461 (GRCm39) |
K258N |
probably benign |
Het |
Vps37c |
T |
C |
19: 10,683,664 (GRCm39) |
S29P |
probably damaging |
Het |
Zfp457 |
T |
A |
13: 67,441,468 (GRCm39) |
D369V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGATTACACGCTGCAGAAAGC -3'
(R):5'- AGTGGAGACATACCTTGCAAC -3'
Sequencing Primer
(F):5'- GCACGAAGCTAGCTATTCACTGATG -3'
(R):5'- GTGGAGACATACCTTGCAACACATG -3'
|
Posted On |
2014-10-30 |