Incidental Mutation 'R5203:Htr7'
ID |
398303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Htr7
|
Ensembl Gene |
ENSMUSG00000024798 |
Gene Name |
5-hydroxytryptamine (serotonin) receptor 7 |
Synonyms |
5-HT7 |
MMRRC Submission |
042778-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5203 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
35936134-36034907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35941792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 464
(S464P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099505]
[ENSMUST00000164639]
[ENSMUST00000164781]
[ENSMUST00000165215]
[ENSMUST00000166074]
[ENSMUST00000170360]
|
AlphaFold |
P32304 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099505
AA Change: S464P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000097105 Gene: ENSMUSG00000024798 AA Change: S464P
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 benign
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: 95.1%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
G |
16: 4,653,462 (GRCm39) |
S4A |
unknown |
Het |
Adgrv1 |
A |
T |
13: 81,659,024 (GRCm39) |
N2053K |
possibly damaging |
Het |
Akr1c13 |
C |
T |
13: 4,247,896 (GRCm39) |
R223* |
probably null |
Het |
Arhgef11 |
A |
G |
3: 87,642,664 (GRCm39) |
Y1370C |
probably damaging |
Het |
Arid1a |
T |
C |
4: 133,409,314 (GRCm39) |
E1731G |
unknown |
Het |
Cyp2c54 |
A |
T |
19: 40,060,918 (GRCm39) |
V75E |
probably damaging |
Het |
Fa2h |
A |
G |
8: 112,075,996 (GRCm39) |
M209T |
probably benign |
Het |
Fam171a1 |
T |
C |
2: 3,224,582 (GRCm39) |
I311T |
probably damaging |
Het |
Fat3 |
C |
A |
9: 16,289,438 (GRCm39) |
L28F |
possibly damaging |
Het |
Fntb |
C |
A |
12: 76,884,346 (GRCm39) |
P22Q |
probably benign |
Het |
Gmeb1 |
T |
C |
4: 131,959,320 (GRCm39) |
|
probably null |
Het |
Gpr22 |
A |
G |
12: 31,759,787 (GRCm39) |
S112P |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Krt79 |
A |
G |
15: 101,838,175 (GRCm39) |
S527P |
unknown |
Het |
Lnpep |
A |
T |
17: 17,757,325 (GRCm39) |
D858E |
probably damaging |
Het |
Ly9 |
C |
A |
1: 171,427,347 (GRCm39) |
V403F |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,232,646 (GRCm39) |
Q363R |
probably benign |
Het |
Mtmr10 |
G |
A |
7: 63,967,909 (GRCm39) |
V273I |
probably benign |
Het |
Mup2 |
T |
A |
4: 60,139,728 (GRCm39) |
E20V |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,410,995 (GRCm39) |
N151S |
probably damaging |
Het |
Nod2 |
A |
C |
8: 89,391,079 (GRCm39) |
D462A |
probably damaging |
Het |
Nt5c2 |
A |
G |
19: 46,878,247 (GRCm39) |
Y497H |
probably damaging |
Het |
Or12d2 |
A |
T |
17: 37,625,092 (GRCm39) |
L61Q |
probably damaging |
Het |
Or4k44 |
A |
C |
2: 111,367,981 (GRCm39) |
Y218D |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdhac1 |
A |
T |
18: 37,224,243 (GRCm39) |
D352V |
probably damaging |
Het |
Psap |
A |
G |
10: 60,130,755 (GRCm39) |
D195G |
probably damaging |
Het |
Scyl1 |
G |
A |
19: 5,821,395 (GRCm39) |
|
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,025,720 (GRCm39) |
|
probably benign |
Het |
Slc2a12 |
G |
T |
10: 22,521,213 (GRCm39) |
|
probably null |
Het |
Slc2a12 |
G |
C |
10: 22,568,117 (GRCm39) |
V515L |
probably benign |
Het |
Ttc17 |
T |
C |
2: 94,209,061 (GRCm39) |
Y131C |
probably damaging |
Het |
Ttc27 |
A |
G |
17: 75,084,649 (GRCm39) |
D419G |
probably damaging |
Het |
Ubxn8 |
T |
C |
8: 34,123,639 (GRCm39) |
E100G |
probably damaging |
Het |
Zpbp |
T |
C |
11: 11,358,451 (GRCm39) |
E272G |
probably damaging |
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 |
R2316:Htr7
|
UTSW |
19 |
35,946,703 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- GAAACTATTTGTGGCAGTTCAAGTC -3'
(R):5'- ACATCCAGCTGTTTGGGTTC -3'
Sequencing Primer
(F):5'- GGCAGTTCAAGTCTATGAGTAAAATC -3'
(R):5'- ATCCAGCTGTTTGGGTTCCTCTG -3'
|
Posted On |
2016-07-06 |