Incidental Mutation 'IGL02636:Htr5a'
| ID |
301507 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Htr5a
|
| Ensembl Gene |
ENSMUSG00000039106 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 5A |
| Synonyms |
Htr5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL02636
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
28047147-28060086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28047658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 71
(F71S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036227]
|
| AlphaFold |
P30966 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036227
AA Change: F71S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: F71S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
56 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
57 |
338 |
4.1e-71 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]
PHENOTYPE: The are conflicting reports about mice with homozygous null alleles regarding increased exploratory behavior and an abnormal exploratory behavior response to LSD. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
C |
A |
6: 85,605,636 (GRCm39) |
Q1960K |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,234,865 (GRCm39) |
V1056E |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,091,755 (GRCm39) |
F105I |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,130,432 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cngb3 |
A |
T |
4: 19,396,690 (GRCm39) |
T348S |
probably damaging |
Het |
| Eci3 |
A |
T |
13: 35,130,963 (GRCm39) |
|
probably null |
Het |
| Gapvd1 |
A |
G |
2: 34,615,416 (GRCm39) |
I409T |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,186,735 (GRCm39) |
|
probably null |
Het |
| Hoxd3 |
G |
A |
2: 74,577,298 (GRCm39) |
A393T |
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,292,707 (GRCm39) |
|
probably null |
Het |
| Igsf6 |
C |
A |
7: 120,666,503 (GRCm39) |
|
probably benign |
Het |
| Klrb1c |
C |
A |
6: 128,765,515 (GRCm39) |
C25F |
probably benign |
Het |
| Lrguk |
C |
A |
6: 34,067,123 (GRCm39) |
T483K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,060,532 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,958,407 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,057,857 (GRCm39) |
G2098D |
probably damaging |
Het |
| Nfkbia |
T |
C |
12: 55,537,958 (GRCm39) |
Q165R |
possibly damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,822,354 (GRCm39) |
|
probably benign |
Het |
| Phykpl |
C |
T |
11: 51,489,540 (GRCm39) |
T382I |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,240,977 (GRCm39) |
D206G |
possibly damaging |
Het |
| Rab26 |
T |
C |
17: 24,752,533 (GRCm39) |
S9G |
probably benign |
Het |
| Sema3e |
C |
A |
5: 14,275,670 (GRCm39) |
N258K |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,971 (GRCm39) |
|
noncoding transcript |
Het |
| Tgm5 |
A |
T |
2: 120,907,277 (GRCm39) |
C149S |
probably damaging |
Het |
| Timp4 |
C |
T |
6: 115,226,785 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,731,964 (GRCm39) |
K251E |
probably benign |
Het |
| Ugcg |
G |
T |
4: 59,207,763 (GRCm39) |
R34L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,444 (GRCm39) |
H300R |
probably damaging |
Het |
| Vmn1r20 |
G |
T |
6: 57,408,746 (GRCm39) |
C24F |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,883 (GRCm39) |
R31G |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,002 (GRCm39) |
T87A |
possibly damaging |
Het |
| Zfp353-ps |
T |
A |
8: 42,535,477 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Htr5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Htr5a
|
APN |
5 |
28,047,742 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02164:Htr5a
|
APN |
5 |
28,047,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02552:Htr5a
|
APN |
5 |
28,047,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1023:Htr5a
|
UTSW |
5 |
28,047,996 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1998:Htr5a
|
UTSW |
5 |
28,055,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1999:Htr5a
|
UTSW |
5 |
28,055,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2000:Htr5a
|
UTSW |
5 |
28,055,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4134:Htr5a
|
UTSW |
5 |
28,047,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4135:Htr5a
|
UTSW |
5 |
28,047,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5378:Htr5a
|
UTSW |
5 |
28,055,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Htr5a
|
UTSW |
5 |
28,055,985 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6440:Htr5a
|
UTSW |
5 |
28,055,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Htr5a
|
UTSW |
5 |
28,047,893 (GRCm39) |
nonsense |
probably null |
|
|
R7992:Htr5a
|
UTSW |
5 |
28,055,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Htr5a
|
UTSW |
5 |
28,055,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9651:Htr5a
|
UTSW |
5 |
28,047,838 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9652:Htr5a
|
UTSW |
5 |
28,047,838 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9653:Htr5a
|
UTSW |
5 |
28,047,838 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
RF009:Htr5a
|
UTSW |
5 |
28,047,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Htr5a
|
UTSW |
5 |
28,056,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation