Incidental Mutation 'R0117:Htr2a'
| ID |
20893 |
| 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 |
038403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
14 |
| Chromosomal Location |
74878314-74944299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74882533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 173
(R173H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036653]
|
| AlphaFold |
P35363 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036653
AA Change: R173H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047774
Gene: ENSMUSG00000034997
AA Change: R173H
| 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 |
0.9627 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.1%
|
| Validation Efficiency |
95% (59/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
A |
T |
17: 33,999,776 (GRCm39) |
I141K |
probably damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,194 (GRCm39) |
D102E |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,947,368 (GRCm39) |
T486A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,817 (GRCm39) |
T624A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,983,808 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
C |
18: 67,759,744 (GRCm39) |
Y323C |
possibly damaging |
Het |
| CK137956 |
T |
A |
4: 127,840,585 (GRCm39) |
T374S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,539 (GRCm39) |
F359I |
probably benign |
Het |
| Cyp4f13 |
G |
T |
17: 33,149,580 (GRCm39) |
H194Q |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,240,016 (GRCm39) |
D667E |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,106,037 (GRCm39) |
R716* |
probably null |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,670,560 (GRCm39) |
|
probably null |
Het |
| Gsta5 |
C |
T |
9: 78,211,700 (GRCm39) |
T154I |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,863,359 (GRCm39) |
|
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,082,005 (GRCm39) |
N979S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,670 (GRCm39) |
Y417C |
probably damaging |
Het |
| Lmf1 |
G |
T |
17: 25,874,965 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,790,036 (GRCm39) |
R659C |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,832 (GRCm39) |
V416A |
possibly damaging |
Het |
| Mgarp |
G |
T |
3: 51,304,133 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
G |
A |
11: 101,891,399 (GRCm39) |
P580S |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Ninl |
G |
A |
2: 150,779,593 (GRCm39) |
R269W |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,595 (GRCm39) |
E2G |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,146 (GRCm39) |
I250N |
probably damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,214 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,244,561 (GRCm39) |
L1173* |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,139,979 (GRCm39) |
E314G |
probably damaging |
Het |
| Peds1 |
A |
G |
2: 167,486,678 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,623,003 (GRCm39) |
M1V |
probably null |
Het |
| Pkdrej |
T |
A |
15: 85,700,300 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
A |
4: 155,069,815 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
G |
A |
11: 70,448,214 (GRCm39) |
R887Q |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,934,286 (GRCm39) |
D838G |
possibly damaging |
Het |
| Postn |
C |
T |
3: 54,290,902 (GRCm39) |
|
probably benign |
Het |
| Prl8a8 |
T |
A |
13: 27,692,473 (GRCm39) |
I172F |
probably damaging |
Het |
| Psmc4 |
A |
T |
7: 27,742,165 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,451,897 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 78,986,484 (GRCm39) |
S1017P |
probably benign |
Het |
| Rbak |
G |
T |
5: 143,159,387 (GRCm39) |
Y555* |
probably null |
Het |
| Serpina1c |
T |
G |
12: 103,861,271 (GRCm39) |
*414C |
probably null |
Het |
| Sntb1 |
A |
G |
15: 55,769,749 (GRCm39) |
V80A |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,944,873 (GRCm39) |
V884A |
probably benign |
Het |
| Stmnd1 |
C |
A |
13: 46,438,962 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Tgm5 |
C |
T |
2: 120,905,583 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
T |
C |
2: 174,299,577 (GRCm39) |
S420P |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,770,430 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,347,464 (GRCm39) |
A3235V |
possibly damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,488,427 (GRCm39) |
S122P |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTCCCCAAGTTGTAAGTCCTG -3'
(R):5'- GGGTCAAGTGCCCATATTCCTTAGC -3'
Sequencing Primer
(F):5'- CCTGGGGTATAGATTACACGC -3'
(R):5'- CAGTCCAGTAACGATAGGTTTCG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation