Incidental Mutation 'R3794:Htr1a'
| ID |
272697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr1a
|
| Ensembl Gene |
ENSMUSG00000021721 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 1A |
| Synonyms |
5-HT1A receptor, Gpcr18 |
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
105580147-105584630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105580852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 31
(V31M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022235]
|
| AlphaFold |
Q64264 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022235
AA Change: V31M
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022235
Gene: ENSMUSG00000021721
AA Change: V31M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
45 |
174 |
2.7e-5 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
47 |
236 |
8e-8 |
PFAM |
|
Pfam:7tm_1
|
53 |
400 |
1.3e-88 |
PFAM |
|
| Meta Mutation Damage Score |
0.0973 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygotes for targeted null mutations show a common phenotype, including augmented anxious-like behavior in the elevated plus-maze, open-field, and novel object tests, reduced immobility in the forced-swim or tail-suspension test, and changes in density of 5-HTT binding in several brain regions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
|
| Other mutations in Htr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Htr1a
|
APN |
13 |
105,581,792 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0578:Htr1a
|
UTSW |
13 |
105,581,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Htr1a
|
UTSW |
13 |
105,581,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Htr1a
|
UTSW |
13 |
105,580,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1143:Htr1a
|
UTSW |
13 |
105,581,576 (GRCm39) |
missense |
probably benign |
|
|
R1349:Htr1a
|
UTSW |
13 |
105,581,874 (GRCm39) |
nonsense |
probably null |
|
|
R1550:Htr1a
|
UTSW |
13 |
105,581,788 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2520:Htr1a
|
UTSW |
13 |
105,581,881 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6679:Htr1a
|
UTSW |
13 |
105,581,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Htr1a
|
UTSW |
13 |
105,581,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7680:Htr1a
|
UTSW |
13 |
105,581,539 (GRCm39) |
missense |
probably benign |
|
|
R8811:Htr1a
|
UTSW |
13 |
105,581,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9046:Htr1a
|
UTSW |
13 |
105,581,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9741:Htr1a
|
UTSW |
13 |
105,581,861 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9756:Htr1a
|
UTSW |
13 |
105,581,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Htr1a
|
UTSW |
13 |
105,581,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTAAGAACTTCCCGCTCCAG -3'
(R):5'- GACACCATGAGATCGGTGAC -3'
Sequencing Primer
(F):5'- TTCGAAACTCCCCAGAAAGGAAGG -3'
(R):5'- ACCGCCAAGGAGCCGATG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation