Incidental Mutation 'R2941:Tacr1'
| ID |
255175 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2941 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
82379315-82537085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82380715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 42
(I42N)
|
| 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: I42N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032122
Gene: ENSMUSG00000030043
AA Change: I42N
| 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: I42N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145217
Gene: ENSMUSG00000030043
AA Change: I42N
| 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 |
noncoding transcript
Transcript: ENSMUST00000205041
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
G |
T |
10: 42,354,291 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
A |
G |
2: 173,410,674 (GRCm39) |
L282P |
probably damaging |
Het |
| Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,654,122 (GRCm39) |
M747K |
possibly damaging |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Fgr |
A |
C |
4: 132,725,734 (GRCm39) |
Y381S |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,732,407 (GRCm39) |
I271V |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,466,000 (GRCm39) |
D39E |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,486,088 (GRCm39) |
T38A |
probably damaging |
Het |
| Or8b52 |
A |
G |
9: 38,576,322 (GRCm39) |
S273P |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,412 (GRCm39) |
V752L |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,953 (GRCm39) |
G289W |
probably damaging |
Het |
| Slu7 |
G |
T |
11: 43,335,584 (GRCm39) |
R440L |
probably benign |
Het |
| Tspan32 |
G |
A |
7: 142,568,729 (GRCm39) |
V103M |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,022,415 (GRCm39) |
S805P |
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 |
|
IGL02651:Tacr1
|
APN |
6 |
82,469,622 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGTCCTACAGCAAGGAG -3'
(R):5'- AAAAGAGGCCGTAGTACCAC -3'
Sequencing Primer
(F):5'- CACTTCTGTGTGTACTTGTGAGTACC -3'
(R):5'- CACACGTTGTGGACTGCGTAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation