Incidental Mutation 'IGL03247:Tacr3'
ID |
414459 |
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 # |
IGL03247
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
134534768-134640340 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 134635852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029822]
|
AlphaFold |
P47937 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029822
|
SMART Domains |
Protein: ENSMUSP00000029822 Gene: ENSMUSG00000028172
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,692,820 (GRCm39) |
N418D |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
H2-Ob |
A |
G |
17: 34,462,466 (GRCm39) |
K152R |
probably benign |
Het |
Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
Mbd1 |
T |
A |
18: 74,407,825 (GRCm39) |
L174* |
probably null |
Het |
Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
Necab1 |
C |
T |
4: 14,960,046 (GRCm39) |
M300I |
probably benign |
Het |
Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
P2ry13 |
A |
T |
3: 59,117,013 (GRCm39) |
V255D |
possibly damaging |
Het |
Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
Tm4sf1 |
A |
G |
3: 57,200,436 (GRCm39) |
S89P |
possibly damaging |
Het |
Tusc3 |
T |
A |
8: 39,597,931 (GRCm39) |
N299K |
possibly damaging |
Het |
Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
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 |
IGL02645:Tacr3
|
APN |
3 |
134,566,943 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03085:Tacr3
|
APN |
3 |
134,638,027 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
2016-08-02 |