Incidental Mutation 'ANU05:Tacr3'
ID |
262476 |
Institutional Source |
Beutler Lab
|
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 # |
ANU05
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
134534768-134640340 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 134635810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 338
(Y338F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029822]
|
AlphaFold |
P47937 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029822
AA Change: Y338F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029822 Gene: ENSMUSG00000028172 AA Change: Y338F
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,206,678 (GRCm39) |
K1513E |
probably damaging |
Het |
Acacb |
T |
A |
5: 114,363,931 (GRCm39) |
F1464Y |
probably benign |
Het |
Adgrg6 |
G |
A |
10: 14,286,274 (GRCm39) |
A1114V |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,566,438 (GRCm39) |
I975T |
possibly damaging |
Het |
Akap7 |
T |
C |
10: 25,147,451 (GRCm39) |
H93R |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
Ccar1 |
T |
A |
10: 62,592,428 (GRCm39) |
E708V |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,772,862 (GRCm39) |
S464P |
probably benign |
Het |
Dusp19 |
A |
G |
2: 80,454,618 (GRCm39) |
T113A |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,615,538 (GRCm39) |
Y2957S |
probably benign |
Het |
Epdr1 |
T |
C |
13: 19,778,814 (GRCm39) |
Y94C |
probably damaging |
Het |
Fcho1 |
A |
T |
8: 72,165,191 (GRCm39) |
L422Q |
probably benign |
Het |
Gca |
T |
A |
2: 62,520,787 (GRCm39) |
Y210* |
probably null |
Het |
Gpnmb |
T |
C |
6: 49,032,615 (GRCm39) |
V513A |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,786 (GRCm39) |
T192A |
probably damaging |
Het |
Isca1 |
T |
C |
13: 59,906,785 (GRCm39) |
T54A |
probably benign |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
L3mbtl1 |
T |
C |
2: 162,812,100 (GRCm39) |
V715A |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,045,865 (GRCm39) |
D257N |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,314,439 (GRCm39) |
H166R |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,289,218 (GRCm39) |
R9G |
probably benign |
Het |
Nmt2 |
T |
G |
2: 3,315,731 (GRCm39) |
S240R |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,114,857 (GRCm39) |
E593G |
possibly damaging |
Het |
Or8k30 |
G |
A |
2: 86,339,513 (GRCm39) |
A237T |
possibly damaging |
Het |
Pank4 |
T |
C |
4: 155,059,103 (GRCm39) |
M412T |
probably damaging |
Het |
Psd |
A |
G |
19: 46,303,186 (GRCm39) |
V100A |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,235,087 (GRCm39) |
T28A |
probably damaging |
Het |
Rnpepl1 |
A |
T |
1: 92,847,468 (GRCm39) |
D685V |
probably benign |
Het |
Rrad |
T |
C |
8: 105,357,283 (GRCm39) |
E88G |
probably benign |
Het |
Sdk2 |
T |
A |
11: 113,733,906 (GRCm39) |
M846L |
probably benign |
Het |
Sparcl1 |
A |
T |
5: 104,242,581 (GRCm39) |
V36E |
possibly damaging |
Het |
Spmip5 |
A |
T |
19: 58,777,545 (GRCm39) |
H80Q |
probably damaging |
Het |
Srrm4 |
C |
T |
5: 116,605,628 (GRCm39) |
E210K |
unknown |
Het |
Stk25 |
A |
T |
1: 93,551,145 (GRCm39) |
|
probably null |
Het |
Tap2 |
A |
T |
17: 34,428,184 (GRCm39) |
Q286L |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tubgcp5 |
C |
A |
7: 55,458,277 (GRCm39) |
A396E |
possibly damaging |
Het |
Ube2o |
T |
C |
11: 116,430,960 (GRCm39) |
D980G |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,433 (GRCm39) |
M98V |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,513,935 (GRCm39) |
H236L |
probably benign |
Het |
Zfp521 |
T |
C |
18: 13,950,303 (GRCm39) |
H1217R |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,601,779 (GRCm39) |
F110I |
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 |
IGL03247:Tacr3
|
APN |
3 |
134,635,852 (GRCm39) |
splice site |
probably benign |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACGTGGTACAGAAAATTCAAACAGGCTA -3'
(R):5'- GTCAGAAAAGCTCAGAAGAACATGCTCT -3'
Sequencing Primer
(F):5'- CACTTACTATTAGGTAGGGATGGAG -3'
(R):5'- CAGAAGAACATGCTCTGTTTTCTC -3'
|
Posted On |
2015-02-04 |