Incidental Mutation 'R2316:Htr7'
ID |
245517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Htr7
|
Ensembl Gene |
ENSMUSG00000024798 |
Gene Name |
5-hydroxytryptamine (serotonin) receptor 7 |
Synonyms |
5-HT7 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
35936134-36034907 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to A
at 35946703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099505]
[ENSMUST00000164639]
[ENSMUST00000164781]
[ENSMUST00000165215]
[ENSMUST00000166074]
[ENSMUST00000170360]
|
AlphaFold |
P32304 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099505
|
SMART Domains |
Protein: ENSMUSP00000097105 Gene: ENSMUSG00000024798
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
95 |
402 |
2.3e-9 |
PFAM |
Pfam:7tm_1
|
101 |
387 |
4.8e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164639
|
SMART Domains |
Protein: ENSMUSP00000126847 Gene: ENSMUSG00000024798
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
95 |
402 |
1.3e-9 |
PFAM |
Pfam:7tm_1
|
101 |
387 |
1.7e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164781
|
SMART Domains |
Protein: ENSMUSP00000131912 Gene: ENSMUSG00000024798
Domain | Start | End | E-Value | Type |
low complexity region
|
90 |
99 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
101 |
185 |
2.8e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165215
|
SMART Domains |
Protein: ENSMUSP00000128386 Gene: ENSMUSG00000024798
Domain | Start | End | E-Value | Type |
low complexity region
|
90 |
99 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
101 |
183 |
7.1e-30 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166074
|
SMART Domains |
Protein: ENSMUSP00000126150 Gene: ENSMUSG00000024798
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
95 |
402 |
2.7e-9 |
PFAM |
Pfam:7tm_1
|
101 |
387 |
5.6e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170360
|
SMART Domains |
Protein: ENSMUSP00000131517 Gene: ENSMUSG00000024798
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
95 |
247 |
9.6e-9 |
PFAM |
Pfam:7tm_1
|
101 |
252 |
1.4e-49 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele display lower electrically- and chemically-induced seizure thresholds. Mice homozygous for a different knock-out allele show enhanced coordination and higher thermal nociceptive thresholds. Other nullizygous mutantsfail to exhibit agonist-induced hypothermia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563I02Rik |
A |
G |
14: 60,333,519 (GRCm39) |
|
probably benign |
Het |
Acaca |
T |
C |
11: 84,154,906 (GRCm39) |
M987T |
probably benign |
Het |
Acaca |
A |
G |
11: 84,185,809 (GRCm39) |
T115A |
possibly damaging |
Het |
Aknad1 |
A |
T |
3: 108,688,472 (GRCm39) |
D600V |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,492,701 (GRCm39) |
T1237S |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,431,884 (GRCm39) |
L660Q |
probably benign |
Het |
Casp1 |
A |
G |
9: 5,306,213 (GRCm39) |
D366G |
possibly damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,643,781 (GRCm39) |
S951R |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,777,756 (GRCm39) |
E2589G |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,413,411 (GRCm39) |
T1135A |
possibly damaging |
Het |
Dnhd1 |
T |
C |
7: 105,323,628 (GRCm39) |
V633A |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,750,973 (GRCm39) |
H400Q |
probably damaging |
Het |
Dzip1 |
A |
G |
14: 119,138,952 (GRCm39) |
F426L |
probably benign |
Het |
Elovl4 |
A |
G |
9: 83,662,826 (GRCm39) |
S236P |
probably damaging |
Het |
Emp1 |
T |
C |
6: 135,357,123 (GRCm39) |
F67S |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,895,164 (GRCm39) |
L635P |
probably damaging |
Het |
Kcnd3 |
A |
C |
3: 105,576,442 (GRCm39) |
S629R |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,322,191 (GRCm39) |
I1913F |
possibly damaging |
Het |
Med19 |
T |
A |
2: 84,516,587 (GRCm39) |
D208E |
probably benign |
Het |
Mettl21c |
A |
T |
1: 44,052,792 (GRCm39) |
V75E |
probably damaging |
Het |
Nhsl3 |
T |
C |
4: 129,117,540 (GRCm39) |
T375A |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,381,779 (GRCm39) |
R64S |
probably damaging |
Het |
Or10g3b |
A |
G |
14: 52,587,395 (GRCm39) |
I36T |
probably benign |
Het |
Or51v8 |
A |
T |
7: 103,319,674 (GRCm39) |
I188N |
probably damaging |
Het |
Or5p50 |
T |
A |
7: 107,422,007 (GRCm39) |
Y223F |
probably benign |
Het |
Peds1 |
T |
A |
2: 167,496,635 (GRCm39) |
Q46L |
possibly damaging |
Het |
Plat |
T |
A |
8: 23,266,881 (GRCm39) |
M291K |
probably benign |
Het |
Psmb4 |
T |
C |
3: 94,792,322 (GRCm39) |
E200G |
probably benign |
Het |
Reln |
T |
C |
5: 22,359,954 (GRCm39) |
Y190C |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
Slc5a4a |
T |
A |
10: 76,013,915 (GRCm39) |
|
probably null |
Het |
Sobp |
A |
T |
10: 43,034,034 (GRCm39) |
N97K |
possibly damaging |
Het |
Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
Stat5b |
G |
T |
11: 100,687,318 (GRCm39) |
T436K |
probably damaging |
Het |
Tas1r3 |
A |
T |
4: 155,947,772 (GRCm39) |
M7K |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,675,045 (GRCm39) |
Q1722* |
probably null |
Het |
Zfp677 |
A |
T |
17: 21,617,582 (GRCm39) |
Y213F |
probably benign |
Het |
|
Other mutations in Htr7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02683:Htr7
|
APN |
19 |
35,937,762 (GRCm39) |
missense |
probably benign |
0.00 |
R0009:Htr7
|
UTSW |
19 |
36,018,940 (GRCm39) |
intron |
probably benign |
|
R0318:Htr7
|
UTSW |
19 |
35,946,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1695:Htr7
|
UTSW |
19 |
35,947,136 (GRCm39) |
missense |
probably benign |
0.01 |
R3973:Htr7
|
UTSW |
19 |
36,034,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R5041:Htr7
|
UTSW |
19 |
36,034,467 (GRCm39) |
missense |
probably benign |
0.10 |
R5203:Htr7
|
UTSW |
19 |
35,941,792 (GRCm39) |
missense |
probably benign |
0.00 |
R5236:Htr7
|
UTSW |
19 |
36,034,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5538:Htr7
|
UTSW |
19 |
35,947,235 (GRCm39) |
missense |
probably benign |
0.34 |
R5682:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5683:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5684:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5686:Htr7
|
UTSW |
19 |
35,947,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5694:Htr7
|
UTSW |
19 |
36,034,521 (GRCm39) |
missense |
probably benign |
0.00 |
R6273:Htr7
|
UTSW |
19 |
36,018,969 (GRCm39) |
intron |
probably benign |
|
R6502:Htr7
|
UTSW |
19 |
35,947,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R6558:Htr7
|
UTSW |
19 |
36,034,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R6884:Htr7
|
UTSW |
19 |
35,941,779 (GRCm39) |
critical splice donor site |
probably null |
|
R7074:Htr7
|
UTSW |
19 |
36,034,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R7592:Htr7
|
UTSW |
19 |
36,034,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R9067:Htr7
|
UTSW |
19 |
36,034,490 (GRCm39) |
missense |
probably benign |
|
R9338:Htr7
|
UTSW |
19 |
35,941,780 (GRCm39) |
critical splice donor site |
probably null |
|
R9783:Htr7
|
UTSW |
19 |
35,946,787 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Htr7
|
UTSW |
19 |
36,034,155 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1176:Htr7
|
UTSW |
19 |
35,946,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAATACCAACCTGTCTTGTGG -3'
(R):5'- TGGGCTATGCAAACTCTCTC -3'
Sequencing Primer
(F):5'- ACCTGTCTTGTGGGTTCTTTAAAAC -3'
(R):5'- GGGCTATGCAAACTCTCTCATTAAC -3'
|
Posted On |
2014-10-30 |