Incidental Mutation 'IGL02651:Tacr1'
| ID |
302147 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tacr1
|
| Ensembl Gene |
ENSMUSG00000030043 |
| Gene Name |
tachykinin receptor 1 |
| Synonyms |
NK1-R, Tac1r, SPr, neurokinin receptor 1, NK-1R, NK1 receptor, substance p receptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02651
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
82379315-82537085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82469622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 169
(S169P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032122]
[ENSMUST00000203775]
|
| AlphaFold |
P30548 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032122
AA Change: S169P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032122
Gene: ENSMUSG00000030043
AA Change: S169P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
43 |
320 |
1.1e-8 |
PFAM |
|
Pfam:7tm_1
|
49 |
305 |
1.5e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203775
AA Change: S169P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145217
Gene: ENSMUSG00000030043
AA Change: S169P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
43 |
320 |
1.1e-8 |
PFAM |
|
Pfam:7tm_1
|
49 |
305 |
1.5e-58 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the receptor for the tachykinin, substance P, also referred to as neurokinin 1. This gene belongs to a gene family of tachykinin receptors which are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This receptor has been associated with nitric oxide formation, and it has been localized to cholinergic and nitrergic neurons as well as on smooth muscle cells. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced anxiety, pain and stress-related responses, reduced immunological response after a viral challenge, and reduced inflammatory responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
A |
19: 31,909,906 (GRCm39) |
G233S |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,283,990 (GRCm39) |
C1202S |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,136,030 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,613,529 (GRCm39) |
F676Y |
probably damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,606,171 (GRCm39) |
Q309K |
probably damaging |
Het |
| Asgr1 |
T |
C |
11: 69,947,956 (GRCm39) |
Y80H |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,152,909 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atp8b2 |
A |
C |
3: 89,861,896 (GRCm39) |
|
probably null |
Het |
| Btnl2 |
A |
G |
17: 34,575,196 (GRCm39) |
M1V |
probably null |
Het |
| Cpsf3 |
T |
A |
12: 21,343,298 (GRCm39) |
M121K |
probably damaging |
Het |
| Creb3l3 |
A |
G |
10: 80,920,668 (GRCm39) |
I454T |
probably benign |
Het |
| Cyp2d12 |
A |
G |
15: 82,440,941 (GRCm39) |
E153G |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,350,768 (GRCm39) |
I2597V |
probably benign |
Het |
| Ercc5 |
C |
A |
1: 44,196,104 (GRCm39) |
S32R |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,926,807 (GRCm39) |
N656K |
possibly damaging |
Het |
| Fga |
G |
A |
3: 82,935,841 (GRCm39) |
E23K |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,835 (GRCm39) |
T1925A |
possibly damaging |
Het |
| Fstl5 |
A |
T |
3: 76,500,841 (GRCm39) |
E423D |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,887,359 (GRCm39) |
M465I |
possibly damaging |
Het |
| H2-M10.4 |
C |
A |
17: 36,771,548 (GRCm39) |
R210L |
probably benign |
Het |
| Hbb-y |
T |
G |
7: 103,501,957 (GRCm39) |
K105Q |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,284,756 (GRCm39) |
|
probably benign |
Het |
| Ipo11 |
T |
C |
13: 107,012,114 (GRCm39) |
Y556C |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,325,372 (GRCm39) |
M1322V |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,828,631 (GRCm39) |
L425P |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Ms4a6c |
A |
T |
19: 11,455,669 (GRCm39) |
E159D |
possibly damaging |
Het |
| Msh6 |
A |
T |
17: 88,296,943 (GRCm39) |
L1213F |
probably damaging |
Het |
| Npy1r |
A |
C |
8: 67,157,675 (GRCm39) |
R328S |
possibly damaging |
Het |
| Or4a74 |
A |
T |
2: 89,439,842 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or5ak20 |
A |
C |
2: 85,183,394 (GRCm39) |
L292R |
probably damaging |
Het |
| Pcdhb18 |
T |
G |
18: 37,624,234 (GRCm39) |
Y521* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,347,210 (GRCm39) |
Y192F |
probably damaging |
Het |
| Rdh12 |
T |
A |
12: 79,268,826 (GRCm39) |
I301N |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,783,438 (GRCm39) |
V1144A |
possibly damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,632 (GRCm39) |
F171L |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,897 (GRCm39) |
L92P |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,537,494 (GRCm39) |
S736P |
probably damaging |
Het |
| Tbc1d21 |
A |
T |
9: 58,270,384 (GRCm39) |
Y130* |
probably null |
Het |
| Tle2 |
G |
A |
10: 81,422,723 (GRCm39) |
G428D |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,442 (GRCm39) |
N367K |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,179,101 (GRCm39) |
T130A |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,680,368 (GRCm39) |
|
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,127,678 (GRCm39) |
L122P |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,845,010 (GRCm39) |
F791S |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,891,129 (GRCm39) |
N575K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,336,086 (GRCm39) |
V746A |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,044,341 (GRCm39) |
M1888K |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,469,017 (GRCm39) |
D3G |
probably benign |
Het |
|
| Other mutations in Tacr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01377:Tacr1
|
APN |
6 |
82,380,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01875:Tacr1
|
APN |
6 |
82,533,997 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02092:Tacr1
|
APN |
6 |
82,380,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Tacr1
|
APN |
6 |
82,380,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Tacr1
|
UTSW |
6 |
82,532,012 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0732:Tacr1
|
UTSW |
6 |
82,529,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1279:Tacr1
|
UTSW |
6 |
82,534,164 (GRCm39) |
nonsense |
probably null |
|
|
R1292:Tacr1
|
UTSW |
6 |
82,531,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1480:Tacr1
|
UTSW |
6 |
82,469,511 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1595:Tacr1
|
UTSW |
6 |
82,380,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2061:Tacr1
|
UTSW |
6 |
82,469,535 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2260:Tacr1
|
UTSW |
6 |
82,380,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Tacr1
|
UTSW |
6 |
82,469,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2941:Tacr1
|
UTSW |
6 |
82,380,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Tacr1
|
UTSW |
6 |
82,380,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4780:Tacr1
|
UTSW |
6 |
82,534,053 (GRCm39) |
missense |
probably benign |
|
|
R4916:Tacr1
|
UTSW |
6 |
82,531,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5065:Tacr1
|
UTSW |
6 |
82,531,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5801:Tacr1
|
UTSW |
6 |
82,534,134 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6919:Tacr1
|
UTSW |
6 |
82,534,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6941:Tacr1
|
UTSW |
6 |
82,380,846 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7269:Tacr1
|
UTSW |
6 |
82,469,692 (GRCm39) |
missense |
probably benign |
|
|
R8717:Tacr1
|
UTSW |
6 |
82,380,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Tacr1
|
UTSW |
6 |
82,534,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9334:Tacr1
|
UTSW |
6 |
82,380,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9344:Tacr1
|
UTSW |
6 |
82,380,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:Tacr1
|
UTSW |
6 |
82,531,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Tacr1
|
UTSW |
6 |
82,469,619 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Tacr1
|
UTSW |
6 |
82,531,978 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2015-04-16 |
Incidental Mutation