Incidental Mutation 'IGL02683:Htr7'
| ID |
303423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
35936134-36034907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35937762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 448
(T448A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126847
(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
AA Change: T448A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126847
Gene: ENSMUSG00000024798
AA Change: T448A
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
| Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
| Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
| Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
| E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
| Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
| Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
| Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
| Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
| Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
| Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
| Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
| Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
probably benign |
Het |
|
| Other mutations in Htr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation