Incidental Mutation 'IGL01291:Tacr3'
| ID |
72904 |
| 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 # |
IGL01291
|
| Quality Score |
|
|
Status
|
|
| 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 |
|
| 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 |
|---|
| 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 |
| Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
| Ccar1 |
T |
A |
10: 62,592,428 (GRCm39) |
E708V |
probably damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,639,041 (GRCm39) |
|
noncoding transcript |
Het |
| Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,861,456 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Tbce |
A |
T |
13: 14,184,325 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation