Incidental Mutation 'IGL02645:Tacr3'
ID |
301929 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tacr3
|
Ensembl Gene |
ENSMUSG00000028172 |
Gene Name |
tachykinin receptor 3 |
Synonyms |
Nk3r, Tac3r, neuromedin K receptor |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02645
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
134534768-134640340 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 134566943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 272
(D272V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029822]
|
AlphaFold |
P47937 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029822
AA Change: D272V
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029822 Gene: ENSMUSG00000028172 AA Change: D272V
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
83 |
358 |
2.4e-11 |
PFAM |
Pfam:7tm_1
|
89 |
343 |
3.6e-58 |
PFAM |
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene belongs to a family of genes that function as receptors for tachykinins. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Mar 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, cognitive deficits in tests associated with learning and memory and symptoms of hypogonadotropic hypogonadism. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang4 |
T |
C |
14: 52,001,804 (GRCm39) |
Y48C |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,373,883 (GRCm39) |
M848K |
probably damaging |
Het |
Apol7c |
A |
T |
15: 77,413,083 (GRCm39) |
S56T |
probably benign |
Het |
Asic4 |
G |
A |
1: 75,449,998 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
A |
G |
2: 153,234,777 (GRCm39) |
K162R |
possibly damaging |
Het |
Car12 |
T |
A |
9: 66,654,961 (GRCm39) |
H130Q |
probably benign |
Het |
Cars1 |
T |
C |
7: 143,111,646 (GRCm39) |
E737G |
probably damaging |
Het |
Ccdc141 |
G |
A |
2: 76,905,211 (GRCm39) |
R412* |
probably null |
Het |
Cd36 |
T |
C |
5: 17,990,878 (GRCm39) |
T421A |
probably benign |
Het |
Clasp2 |
T |
G |
9: 113,719,129 (GRCm39) |
M758R |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
Ebf4 |
A |
G |
2: 130,203,761 (GRCm39) |
K471E |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,173,654 (GRCm39) |
D2353V |
probably damaging |
Het |
Gm10136 |
A |
G |
19: 28,981,140 (GRCm39) |
|
probably benign |
Het |
Intu |
A |
G |
3: 40,655,702 (GRCm39) |
I930V |
probably benign |
Het |
Ndrg2 |
T |
A |
14: 52,143,979 (GRCm39) |
M300L |
possibly damaging |
Het |
Nhs |
A |
G |
X: 160,942,054 (GRCm39) |
S111P |
probably benign |
Het |
Nme8 |
T |
A |
13: 19,844,755 (GRCm39) |
L111F |
probably damaging |
Het |
Nol8 |
T |
A |
13: 49,818,947 (GRCm39) |
|
probably null |
Het |
Or10g1b |
T |
A |
14: 52,627,958 (GRCm39) |
T91S |
possibly damaging |
Het |
Or12e13 |
C |
T |
2: 87,663,959 (GRCm39) |
T192M |
probably benign |
Het |
Or4a76 |
T |
C |
2: 89,460,679 (GRCm39) |
T188A |
probably benign |
Het |
Or4c116 |
T |
C |
2: 88,941,963 (GRCm39) |
R298G |
probably benign |
Het |
Pcdhac2 |
G |
A |
18: 37,278,292 (GRCm39) |
G424D |
probably damaging |
Het |
Pex3 |
T |
G |
10: 13,422,173 (GRCm39) |
E42D |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,943,311 (GRCm39) |
|
probably benign |
Het |
Rpe65 |
T |
A |
3: 159,312,128 (GRCm39) |
I209N |
probably damaging |
Het |
Rsl1 |
T |
A |
13: 67,330,273 (GRCm39) |
F240L |
probably benign |
Het |
Rttn |
A |
T |
18: 89,128,810 (GRCm39) |
I1921F |
probably benign |
Het |
Scn3a |
A |
T |
2: 65,344,871 (GRCm39) |
F539Y |
probably benign |
Het |
Secisbp2 |
T |
A |
13: 51,836,496 (GRCm39) |
M767K |
probably damaging |
Het |
Sipa1l3 |
C |
T |
7: 29,028,405 (GRCm39) |
|
probably null |
Het |
Slfn8 |
T |
C |
11: 82,894,380 (GRCm39) |
N753S |
possibly damaging |
Het |
Spmip6 |
A |
G |
4: 41,517,080 (GRCm39) |
V28A |
probably damaging |
Het |
Sympk |
T |
G |
7: 18,786,349 (GRCm39) |
V984G |
probably damaging |
Het |
Timd6 |
A |
G |
11: 46,477,047 (GRCm39) |
R167G |
probably benign |
Het |
Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
Zfp804a |
T |
C |
2: 81,884,220 (GRCm39) |
L29P |
possibly damaging |
Het |
Zfp94 |
C |
T |
7: 24,003,179 (GRCm39) |
G88R |
probably benign |
Het |
|
Other mutations in Tacr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Tacr3
|
APN |
3 |
134,560,582 (GRCm39) |
missense |
probably benign |
0.31 |
IGL00972:Tacr3
|
APN |
3 |
134,638,116 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01291:Tacr3
|
APN |
3 |
134,635,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01417:Tacr3
|
APN |
3 |
134,535,242 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL01417:Tacr3
|
APN |
3 |
134,535,307 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02282:Tacr3
|
APN |
3 |
134,566,834 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02548:Tacr3
|
APN |
3 |
134,535,232 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03085:Tacr3
|
APN |
3 |
134,638,027 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03247:Tacr3
|
APN |
3 |
134,635,852 (GRCm39) |
splice site |
probably benign |
|
ANU05:Tacr3
|
UTSW |
3 |
134,635,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R0355:Tacr3
|
UTSW |
3 |
134,637,989 (GRCm39) |
missense |
probably benign |
0.28 |
R0731:Tacr3
|
UTSW |
3 |
134,560,761 (GRCm39) |
critical splice donor site |
probably null |
|
R1570:Tacr3
|
UTSW |
3 |
134,535,517 (GRCm39) |
missense |
probably damaging |
0.97 |
R1686:Tacr3
|
UTSW |
3 |
134,535,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R2129:Tacr3
|
UTSW |
3 |
134,560,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R2130:Tacr3
|
UTSW |
3 |
134,637,941 (GRCm39) |
missense |
probably benign |
0.00 |
R2131:Tacr3
|
UTSW |
3 |
134,637,941 (GRCm39) |
missense |
probably benign |
0.00 |
R2352:Tacr3
|
UTSW |
3 |
134,560,631 (GRCm39) |
missense |
probably benign |
0.09 |
R4695:Tacr3
|
UTSW |
3 |
134,635,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R4695:Tacr3
|
UTSW |
3 |
134,535,182 (GRCm39) |
missense |
probably benign |
0.01 |
R4840:Tacr3
|
UTSW |
3 |
134,560,615 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4976:Tacr3
|
UTSW |
3 |
134,638,033 (GRCm39) |
missense |
probably benign |
0.14 |
R5168:Tacr3
|
UTSW |
3 |
134,535,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R5924:Tacr3
|
UTSW |
3 |
134,638,060 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6042:Tacr3
|
UTSW |
3 |
134,638,153 (GRCm39) |
missense |
probably benign |
0.01 |
R6964:Tacr3
|
UTSW |
3 |
134,535,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R7653:Tacr3
|
UTSW |
3 |
134,566,843 (GRCm39) |
missense |
probably benign |
0.02 |
R7724:Tacr3
|
UTSW |
3 |
134,635,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R8291:Tacr3
|
UTSW |
3 |
134,637,910 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8987:Tacr3
|
UTSW |
3 |
134,560,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R8987:Tacr3
|
UTSW |
3 |
134,560,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R9077:Tacr3
|
UTSW |
3 |
134,635,711 (GRCm39) |
missense |
probably benign |
0.05 |
R9423:Tacr3
|
UTSW |
3 |
134,638,043 (GRCm39) |
missense |
probably benign |
|
R9501:Tacr3
|
UTSW |
3 |
134,535,092 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |