Incidental Mutation 'R6900:Htr1b'
| ID |
538492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr1b
|
| Ensembl Gene |
ENSMUSG00000049511 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 1B |
| Synonyms |
5-HT<1B> receptor, 5-HT1B receptor, 5HT1B receptor |
| MMRRC Submission |
044994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R6900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
81510344-81515881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81513623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 328
(I328N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051005]
[ENSMUST00000183482]
|
| AlphaFold |
P28334 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051005
AA Change: I328N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: I328N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
53 |
188 |
6e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
56 |
380 |
7.5e-12 |
PFAM |
|
Pfam:7tm_1
|
62 |
365 |
1.8e-80 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183482
AA Change: I328N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: I328N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
53 |
188 |
5.7e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
56 |
380 |
7.5e-12 |
PFAM |
|
Pfam:7tm_1
|
62 |
365 |
1e-91 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit an increase in body weight, aggression, drinking behavior, and osteoblast proliferation and bone mass, and show altered spatial learning and operant conditional behavior as well as reduced anxiety-related response and startle reflex, and small testes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
C |
8: 78,037,491 (GRCm39) |
D579G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,518 (GRCm39) |
S1333G |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,838,190 (GRCm39) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,245,271 (GRCm39) |
D1149G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,701,510 (GRCm39) |
L215P |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,209,903 (GRCm39) |
M993V |
probably benign |
Het |
| Ggt5 |
A |
T |
10: 75,446,371 (GRCm39) |
Q523L |
possibly damaging |
Het |
| Hcn1 |
A |
G |
13: 117,793,363 (GRCm39) |
N205S |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,633,591 (GRCm39) |
F980Y |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,757,008 (GRCm39) |
S243P |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,587 (GRCm39) |
N97S |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,394,908 (GRCm39) |
Y578C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,367,675 (GRCm39) |
K468E |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,350 (GRCm39) |
N1283S |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,128,097 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
A |
G |
15: 4,938,469 (GRCm39) |
I253V |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,835,169 (GRCm39) |
F228S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,295 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,123 (GRCm39) |
F2004S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,604,925 (GRCm39) |
L1130Q |
probably benign |
Het |
| Pparg |
G |
T |
6: 115,449,949 (GRCm39) |
R286L |
possibly damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,575,923 (GRCm39) |
S96G |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,938,857 (GRCm39) |
Q44* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,010,893 (GRCm39) |
F1227S |
possibly damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,571 (GRCm39) |
D304G |
possibly damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,008,049 (GRCm39) |
Y12H |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,489 (GRCm39) |
N779S |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,014,858 (GRCm39) |
V693A |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,956 (GRCm39) |
C255Y |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,754,083 (GRCm39) |
S819T |
probably damaging |
Het |
| Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
probably damaging |
Het |
|
| Other mutations in Htr1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02932:Htr1b
|
APN |
9 |
81,513,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03144:Htr1b
|
APN |
9 |
81,513,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03350:Htr1b
|
APN |
9 |
81,514,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Htr1b
|
UTSW |
9 |
81,513,704 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0697:Htr1b
|
UTSW |
9 |
81,513,516 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1569:Htr1b
|
UTSW |
9 |
81,514,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3411:Htr1b
|
UTSW |
9 |
81,514,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3821:Htr1b
|
UTSW |
9 |
81,514,487 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4359:Htr1b
|
UTSW |
9 |
81,514,404 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4487:Htr1b
|
UTSW |
9 |
81,513,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4489:Htr1b
|
UTSW |
9 |
81,513,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4715:Htr1b
|
UTSW |
9 |
81,513,563 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5502:Htr1b
|
UTSW |
9 |
81,513,854 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6393:Htr1b
|
UTSW |
9 |
81,513,810 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6616:Htr1b
|
UTSW |
9 |
81,514,487 (GRCm39) |
missense |
probably benign |
|
|
R7038:Htr1b
|
UTSW |
9 |
81,514,296 (GRCm39) |
missense |
probably benign |
|
|
R7850:Htr1b
|
UTSW |
9 |
81,514,652 (GRCm39) |
splice site |
probably null |
|
|
R7954:Htr1b
|
UTSW |
9 |
81,513,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8074:Htr1b
|
UTSW |
9 |
81,513,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9098:Htr1b
|
UTSW |
9 |
81,514,481 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACCTGCGCACTTAAAGC -3'
(R):5'- GTTGATAACAGACTCCCCGG -3'
Sequencing Primer
(F):5'- CTTAAAGCGTATCAGTTTGTGGAACG -3'
(R):5'- GGATCCACATCCTCGGTCAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation