Incidental Mutation 'R1137:Htr4'
ID |
95242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Htr4
|
Ensembl Gene |
ENSMUSG00000026322 |
Gene Name |
5 hydroxytryptamine (serotonin) receptor 4 |
Synonyms |
5-HT4, 5-HT<4L> |
MMRRC Submission |
039210-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1137 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
62457275-62629648 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62570624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 226
(I226M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027560]
|
AlphaFold |
P97288 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027560
AA Change: I226M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027560 Gene: ENSMUSG00000026322 AA Change: I226M
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
36 |
312 |
7e-68 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010] PHENOTYPE: Homozygous mutant mice exhibit attenuated feeding behavior following stress and novelty and show a hypersensitivity to seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,256 (GRCm39) |
S54T |
probably benign |
Het |
Ahdc1 |
A |
G |
4: 132,789,424 (GRCm39) |
T222A |
possibly damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,832,760 (GRCm39) |
K1561E |
probably benign |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,676,446 (GRCm39) |
V78A |
probably damaging |
Het |
Clec4n |
G |
A |
6: 123,223,526 (GRCm39) |
M170I |
possibly damaging |
Het |
Cp |
G |
T |
3: 20,033,116 (GRCm39) |
A648S |
probably benign |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dnah8 |
A |
G |
17: 31,074,910 (GRCm39) |
D4543G |
probably damaging |
Het |
Elp3 |
A |
G |
14: 65,785,370 (GRCm39) |
V477A |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,885,205 (GRCm39) |
S245P |
probably benign |
Het |
Fkbp9 |
G |
T |
6: 56,837,682 (GRCm39) |
G312V |
probably damaging |
Het |
Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,914,486 (GRCm39) |
|
probably null |
Het |
Kmt2c |
C |
A |
5: 25,515,981 (GRCm39) |
V2621F |
possibly damaging |
Het |
Lif |
A |
G |
11: 4,219,237 (GRCm39) |
D172G |
probably damaging |
Het |
Llgl1 |
C |
A |
11: 60,595,559 (GRCm39) |
H82N |
probably benign |
Het |
Lrwd1 |
T |
C |
5: 136,162,273 (GRCm39) |
I162M |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,694,511 (GRCm39) |
I1078N |
probably damaging |
Het |
Muc1 |
A |
T |
3: 89,137,745 (GRCm39) |
T196S |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,464,634 (GRCm39) |
L657P |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Ppp1cb |
T |
C |
5: 32,645,015 (GRCm39) |
M55T |
probably damaging |
Het |
Ppp1r9a |
T |
C |
6: 5,159,697 (GRCm39) |
M1078T |
possibly damaging |
Het |
Rarg |
T |
C |
15: 102,149,595 (GRCm39) |
T125A |
probably damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Slc5a7 |
G |
A |
17: 54,600,039 (GRCm39) |
R125C |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tigit |
G |
T |
16: 43,469,485 (GRCm39) |
T202N |
probably benign |
Het |
Tmem132b |
C |
T |
5: 125,860,606 (GRCm39) |
A617V |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,938,400 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,768,659 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,852,422 (GRCm39) |
D846V |
probably damaging |
Het |
Vmn1r16 |
T |
G |
6: 57,300,221 (GRCm39) |
N134H |
probably damaging |
Het |
|
Other mutations in Htr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01965:Htr4
|
APN |
18 |
62,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02822:Htr4
|
APN |
18 |
62,561,255 (GRCm39) |
splice site |
probably benign |
|
IGL03240:Htr4
|
APN |
18 |
62,570,692 (GRCm39) |
missense |
possibly damaging |
0.92 |
P0042:Htr4
|
UTSW |
18 |
62,546,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R0485:Htr4
|
UTSW |
18 |
62,561,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Htr4
|
UTSW |
18 |
62,545,305 (GRCm39) |
missense |
probably damaging |
0.97 |
R1665:Htr4
|
UTSW |
18 |
62,545,305 (GRCm39) |
missense |
probably damaging |
0.97 |
R1682:Htr4
|
UTSW |
18 |
62,561,137 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1903:Htr4
|
UTSW |
18 |
62,561,193 (GRCm39) |
missense |
probably benign |
0.01 |
R2215:Htr4
|
UTSW |
18 |
62,546,787 (GRCm39) |
nonsense |
probably null |
|
R2847:Htr4
|
UTSW |
18 |
62,561,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R2848:Htr4
|
UTSW |
18 |
62,561,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R5764:Htr4
|
UTSW |
18 |
62,570,613 (GRCm39) |
missense |
probably damaging |
0.97 |
R5787:Htr4
|
UTSW |
18 |
62,546,693 (GRCm39) |
missense |
probably damaging |
0.98 |
R7184:Htr4
|
UTSW |
18 |
62,570,498 (GRCm39) |
nonsense |
probably null |
|
R7278:Htr4
|
UTSW |
18 |
62,545,247 (GRCm39) |
missense |
probably benign |
0.04 |
R7811:Htr4
|
UTSW |
18 |
62,545,269 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8190:Htr4
|
UTSW |
18 |
62,570,971 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8312:Htr4
|
UTSW |
18 |
62,570,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R8699:Htr4
|
UTSW |
18 |
62,570,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R8725:Htr4
|
UTSW |
18 |
62,561,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R8727:Htr4
|
UTSW |
18 |
62,561,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R8757:Htr4
|
UTSW |
18 |
62,545,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R8787:Htr4
|
UTSW |
18 |
62,570,853 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1177:Htr4
|
UTSW |
18 |
62,570,679 (GRCm39) |
missense |
probably benign |
0.29 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCTCCCACTCTCAGATAGAGAAAAGG -3'
(R):5'- GAAAGCAGTCCACACCTGCTCG -3'
Sequencing Primer
(F):5'- GGAAATTCAGCCACAACTCTAACTC -3'
(R):5'- TGTAGTCTATGAAAGGGTCCAC -3'
|
Posted On |
2014-01-05 |