Incidental Mutation 'R5683:Htr7'
ID |
443213 |
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 # |
R5683 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
35936134-36034907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 35947271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 248
(A248S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099505]
[ENSMUST00000164639]
[ENSMUST00000164781]
[ENSMUST00000165215]
[ENSMUST00000166074]
[ENSMUST00000170360]
|
AlphaFold |
P32304 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099505
AA Change: A248S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000097105 Gene: ENSMUSG00000024798 AA Change: A248S
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 damaging
Transcript: ENSMUST00000164639
AA Change: A248S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126847 Gene: ENSMUSG00000024798 AA Change: A248S
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 damaging
Transcript: ENSMUST00000166074
AA Change: A248S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126150 Gene: ENSMUSG00000024798 AA Change: A248S
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 damaging
Transcript: ENSMUST00000170360
AA Change: A248S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131517 Gene: ENSMUSG00000024798 AA Change: A248S
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 |
|
Meta Mutation Damage Score |
0.0862 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
C |
11: 72,093,266 (GRCm39) |
M22R |
probably benign |
Het |
Acad11 |
A |
G |
9: 103,961,482 (GRCm39) |
E397G |
probably damaging |
Het |
Actrt3 |
A |
T |
3: 30,652,427 (GRCm39) |
D222E |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,750,018 (GRCm39) |
S790T |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,566,369 (GRCm39) |
D1113E |
probably benign |
Het |
Arl2 |
C |
A |
19: 6,184,794 (GRCm39) |
R153L |
probably benign |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
Ccdc138 |
C |
A |
10: 58,376,641 (GRCm39) |
Q425K |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,263,179 (GRCm39) |
K143N |
probably benign |
Het |
Cd200r4 |
T |
A |
16: 44,653,311 (GRCm39) |
I73K |
probably benign |
Het |
Chaf1b |
A |
G |
16: 93,684,030 (GRCm39) |
K94E |
possibly damaging |
Het |
Cmtm2a |
T |
C |
8: 105,019,676 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Fnbp4 |
C |
A |
2: 90,583,206 (GRCm39) |
N277K |
probably damaging |
Het |
Itsn1 |
T |
C |
16: 91,702,268 (GRCm39) |
Y37H |
probably benign |
Het |
Kdm8 |
A |
G |
7: 125,054,345 (GRCm39) |
Y16C |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,306,718 (GRCm39) |
Y881N |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,079,447 (GRCm39) |
V80I |
probably benign |
Het |
Lrriq1 |
T |
A |
10: 103,009,236 (GRCm39) |
L1082F |
probably damaging |
Het |
Met |
A |
G |
6: 17,571,743 (GRCm39) |
Y1354C |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,536,007 (GRCm39) |
L2859P |
possibly damaging |
Het |
Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
Nlrp4e |
T |
C |
7: 23,052,697 (GRCm39) |
I872T |
probably damaging |
Het |
Npnt |
A |
T |
3: 132,612,601 (GRCm39) |
|
probably null |
Het |
Nsd1 |
G |
A |
13: 55,393,961 (GRCm39) |
V521I |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,437 (GRCm39) |
M258I |
possibly damaging |
Het |
Pak6 |
T |
A |
2: 118,524,393 (GRCm39) |
Y469N |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,884,886 (GRCm39) |
R1322* |
probably null |
Het |
Pax6 |
T |
C |
2: 105,516,252 (GRCm39) |
Y177H |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,442,042 (GRCm39) |
T451S |
probably benign |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,907 (GRCm39) |
D234V |
probably damaging |
Het |
Pramel11 |
A |
G |
4: 143,622,423 (GRCm39) |
S311P |
probably damaging |
Het |
Ralb |
G |
A |
1: 119,403,686 (GRCm39) |
A147V |
possibly damaging |
Het |
Rgs11 |
A |
G |
17: 26,424,155 (GRCm39) |
K196E |
probably benign |
Het |
Rnft1 |
A |
T |
11: 86,382,616 (GRCm39) |
T280S |
probably benign |
Het |
Slco4c1 |
G |
T |
1: 96,795,559 (GRCm39) |
H166Q |
probably damaging |
Het |
Sycp3 |
T |
C |
10: 88,308,797 (GRCm39) |
S248P |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,794,876 (GRCm39) |
|
probably null |
Het |
Tgm6 |
T |
C |
2: 129,980,875 (GRCm39) |
M224T |
probably damaging |
Het |
Topbp1 |
A |
T |
9: 103,190,003 (GRCm39) |
E193V |
possibly damaging |
Het |
Trim36 |
T |
C |
18: 46,302,359 (GRCm39) |
Y551C |
probably damaging |
Het |
Ttc17 |
T |
C |
2: 94,192,866 (GRCm39) |
Y628C |
probably damaging |
Het |
Vmn1r180 |
A |
C |
7: 23,652,635 (GRCm39) |
D266A |
possibly damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,260,981 (GRCm39) |
K481* |
probably null |
Het |
Zc3hav1 |
A |
G |
6: 38,284,172 (GRCm39) |
V981A |
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 |
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 |
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'- GTGTTTGAGCAGTCTCGAAAG -3'
(R):5'- TGCTAGGTACCTTGGGATCAC -3'
Sequencing Primer
(F):5'- GAAAGGTTCGCACACTCTTC -3'
(R):5'- GGATCACCAGGCCCCTCAC -3'
|
Posted On |
2016-11-09 |