Incidental Mutation 'R5168:Tacr3'
| ID |
397384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tacr3
|
| Ensembl Gene |
ENSMUSG00000028172 |
| Gene Name |
tachykinin receptor 3 |
| Synonyms |
Nk3r, Tac3r, neuromedin K receptor |
| MMRRC Submission |
042748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
134534768-134640340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134535320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 96
(I96T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029822]
|
| AlphaFold |
P47937 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029822
AA Change: I96T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029822
Gene: ENSMUSG00000028172
AA Change: I96T
| 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 |
|
| Meta Mutation Damage Score |
0.4370 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (47/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,086,070 (GRCm39) |
N478D |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,966,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,088,561 (GRCm39) |
C116S |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,671 (GRCm39) |
L785P |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,708,610 (GRCm39) |
N192S |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,047,667 (GRCm39) |
L1414H |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,190,816 (GRCm39) |
I849F |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,701,361 (GRCm39) |
W2518* |
probably null |
Het |
| Cxcl15 |
T |
A |
5: 90,943,142 (GRCm39) |
I48K |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,365,924 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,755,097 (GRCm39) |
E82G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,720,637 (GRCm39) |
W1249R |
probably damaging |
Het |
| Fras1 |
A |
C |
5: 96,856,616 (GRCm39) |
M2000L |
probably benign |
Het |
| Gpr31b |
A |
T |
17: 13,270,326 (GRCm39) |
I281N |
probably damaging |
Het |
| Gvin3 |
T |
C |
7: 106,196,054 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
T |
C |
7: 30,357,136 (GRCm39) |
T432A |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Katnal1 |
A |
G |
5: 148,858,132 (GRCm39) |
M26T |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 36,044,929 (GRCm39) |
W71* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,407,481 (GRCm39) |
V397D |
probably damaging |
Het |
| Nt5dc1 |
T |
A |
10: 34,273,236 (GRCm39) |
E187D |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Or51f23 |
C |
T |
7: 102,453,528 (GRCm39) |
A281V |
probably benign |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,768 (GRCm39) |
V451A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,817 (GRCm39) |
V493A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,767,207 (GRCm39) |
T1228A |
probably benign |
Het |
| Slc26a3 |
G |
A |
12: 31,518,553 (GRCm39) |
V674I |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,488 (GRCm39) |
V223I |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,197,139 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,824,088 (GRCm39) |
N254K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,651 (GRCm39) |
L99Q |
probably damaging |
Het |
| Trav6-5 |
A |
T |
14: 53,728,973 (GRCm39) |
N78Y |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,248,997 (GRCm39) |
Q807* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,531 (GRCm39) |
T110A |
probably benign |
Het |
| Vcl |
C |
T |
14: 21,060,170 (GRCm39) |
T603I |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,276,195 (GRCm39) |
T243S |
probably damaging |
Het |
| Vps8 |
A |
C |
16: 21,351,849 (GRCm39) |
I323L |
probably benign |
Het |
| Zfp746 |
G |
C |
6: 48,041,329 (GRCm39) |
Q465E |
possibly damaging |
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 |
|
|
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 |
|
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'- ATACAGGGAATCTGAGCGC -3'
(R):5'- CGCTGTGATGGGAAAGAAGTTC -3'
Sequencing Primer
(F):5'- ATCACTGAGTGGCTTGCGC -3'
(R):5'- CTGGAAGCGGCAGTAGTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation