Incidental Mutation 'R6575:Trhr'
ID |
523415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trhr
|
Ensembl Gene |
ENSMUSG00000038760 |
Gene Name |
thyrotropin releasing hormone receptor |
Synonyms |
TRH-R1 |
MMRRC Submission |
044699-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6575 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
44059531-44099308 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44092602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 280
(M280V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038856]
[ENSMUST00000110289]
[ENSMUST00000226626]
[ENSMUST00000227505]
|
AlphaFold |
P21761 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038856
AA Change: M280V
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000036320 Gene: ENSMUSG00000038760 AA Change: M280V
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
33 |
177 |
1.6e-7 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
335 |
4.8e-12 |
PFAM |
Pfam:7tm_1
|
42 |
320 |
1.6e-50 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110289
AA Change: M280V
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105918 Gene: ENSMUSG00000038760 AA Change: M280V
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
33 |
175 |
1.9e-7 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
335 |
4.8e-12 |
PFAM |
Pfam:7tm_1
|
42 |
320 |
1.3e-58 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226626
AA Change: M280V
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227505
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011] PHENOTYPE: Homozygous null mice are fertile and display decreased thyroxine, triiodothyronine, and prolactin levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,330,683 (GRCm39) |
Y1177C |
probably damaging |
Het |
Acnat1 |
A |
G |
4: 49,450,785 (GRCm39) |
Y109H |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,401,522 (GRCm39) |
K835N |
possibly damaging |
Het |
Afg1l |
T |
C |
10: 42,194,712 (GRCm39) |
D360G |
probably damaging |
Het |
Ap3s1 |
C |
T |
18: 46,887,448 (GRCm39) |
T27M |
probably benign |
Het |
Atp8b4 |
A |
G |
2: 126,256,284 (GRCm39) |
L225P |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,713,056 (GRCm39) |
T997I |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,995,411 (GRCm39) |
R112G |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,561,535 (GRCm39) |
T989A |
possibly damaging |
Het |
Cog1 |
C |
A |
11: 113,546,887 (GRCm39) |
Q494K |
probably benign |
Het |
Cyb5rl |
T |
C |
4: 106,942,550 (GRCm39) |
Y160H |
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,057 (GRCm39) |
N198D |
probably damaging |
Het |
Eif1ad11 |
T |
C |
12: 87,994,117 (GRCm39) |
I115T |
probably damaging |
Het |
Eif3l |
C |
A |
15: 78,970,778 (GRCm39) |
Q351K |
possibly damaging |
Het |
Esr1 |
T |
C |
10: 4,916,301 (GRCm39) |
|
probably benign |
Het |
Fam3c |
G |
T |
6: 22,329,607 (GRCm39) |
A40D |
probably damaging |
Het |
Fcrla |
A |
G |
1: 170,749,797 (GRCm39) |
S87P |
probably damaging |
Het |
Glra1 |
A |
G |
11: 55,411,822 (GRCm39) |
Y246H |
probably damaging |
Het |
Gm45871 |
T |
A |
18: 90,609,844 (GRCm39) |
C361S |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,547,347 (GRCm39) |
N1522D |
possibly damaging |
Het |
Hcn4 |
T |
C |
9: 58,731,435 (GRCm39) |
M214T |
unknown |
Het |
Heatr5b |
A |
T |
17: 79,070,418 (GRCm39) |
V1665E |
probably damaging |
Het |
Hemgn |
C |
A |
4: 46,395,990 (GRCm39) |
M415I |
possibly damaging |
Het |
Hibadh |
G |
A |
6: 52,524,013 (GRCm39) |
T295I |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,878,745 (GRCm39) |
L947P |
probably damaging |
Het |
Icam2 |
G |
A |
11: 106,269,585 (GRCm39) |
T178I |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,663,763 (GRCm39) |
S86P |
probably damaging |
Het |
Lipe |
G |
A |
7: 25,082,749 (GRCm39) |
T801I |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,518,934 (GRCm39) |
T44A |
possibly damaging |
Het |
Malrd1 |
A |
G |
2: 15,847,439 (GRCm39) |
H1193R |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myh10 |
A |
G |
11: 68,699,676 (GRCm39) |
I1671V |
probably benign |
Het |
Or2c1 |
A |
G |
16: 3,656,894 (GRCm39) |
D19G |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,930,129 (GRCm39) |
D334G |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,098,117 (GRCm39) |
D801G |
probably damaging |
Het |
Pfdn4 |
C |
A |
2: 170,358,556 (GRCm39) |
D16E |
probably benign |
Het |
Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
Rrp9 |
C |
T |
9: 106,360,778 (GRCm39) |
T253I |
probably damaging |
Het |
Speer1m |
A |
T |
5: 11,970,612 (GRCm39) |
K62* |
probably null |
Het |
Tnrc6a |
A |
G |
7: 122,769,133 (GRCm39) |
T308A |
probably damaging |
Het |
Trgv4 |
T |
A |
13: 19,369,250 (GRCm39) |
C34S |
probably benign |
Het |
Trp53bp1 |
G |
A |
2: 121,059,084 (GRCm39) |
H926Y |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,652,903 (GRCm39) |
I90K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
Vav1 |
A |
C |
17: 57,612,280 (GRCm39) |
R513S |
probably damaging |
Het |
Vmn2r100 |
A |
T |
17: 19,741,671 (GRCm39) |
T128S |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,915,700 (GRCm39) |
Y1024C |
probably damaging |
Het |
Zfp938 |
C |
A |
10: 82,061,160 (GRCm39) |
G487* |
probably null |
Het |
Znrf2 |
A |
G |
6: 54,855,430 (GRCm39) |
Y73C |
probably damaging |
Het |
|
Other mutations in Trhr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01596:Trhr
|
APN |
15 |
44,092,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01800:Trhr
|
APN |
15 |
44,092,603 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01945:Trhr
|
APN |
15 |
44,060,540 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02608:Trhr
|
APN |
15 |
44,061,074 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02825:Trhr
|
APN |
15 |
44,092,921 (GRCm39) |
missense |
possibly damaging |
0.62 |
pushover
|
UTSW |
15 |
44,061,023 (GRCm39) |
missense |
probably damaging |
1.00 |
P4717OSA:Trhr
|
UTSW |
15 |
44,060,831 (GRCm39) |
missense |
probably damaging |
0.97 |
R0007:Trhr
|
UTSW |
15 |
44,092,547 (GRCm39) |
splice site |
probably benign |
|
R0276:Trhr
|
UTSW |
15 |
44,060,482 (GRCm39) |
start codon destroyed |
probably null |
0.74 |
R0620:Trhr
|
UTSW |
15 |
44,092,896 (GRCm39) |
missense |
probably benign |
0.01 |
R1563:Trhr
|
UTSW |
15 |
44,060,497 (GRCm39) |
missense |
probably benign |
0.05 |
R1728:Trhr
|
UTSW |
15 |
44,060,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Trhr
|
UTSW |
15 |
44,060,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Trhr
|
UTSW |
15 |
44,060,579 (GRCm39) |
missense |
probably benign |
0.44 |
R2167:Trhr
|
UTSW |
15 |
44,092,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R3965:Trhr
|
UTSW |
15 |
44,061,095 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4246:Trhr
|
UTSW |
15 |
44,096,856 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4272:Trhr
|
UTSW |
15 |
44,060,620 (GRCm39) |
missense |
probably damaging |
0.97 |
R4378:Trhr
|
UTSW |
15 |
44,061,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R4618:Trhr
|
UTSW |
15 |
44,061,037 (GRCm39) |
missense |
probably benign |
0.00 |
R5093:Trhr
|
UTSW |
15 |
44,060,980 (GRCm39) |
missense |
probably damaging |
0.96 |
R5388:Trhr
|
UTSW |
15 |
44,060,873 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5496:Trhr
|
UTSW |
15 |
44,060,932 (GRCm39) |
missense |
probably benign |
0.00 |
R6341:Trhr
|
UTSW |
15 |
44,092,694 (GRCm39) |
nonsense |
probably null |
|
R6463:Trhr
|
UTSW |
15 |
44,060,981 (GRCm39) |
missense |
probably benign |
0.09 |
R7483:Trhr
|
UTSW |
15 |
44,092,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R8780:Trhr
|
UTSW |
15 |
44,061,149 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8807:Trhr
|
UTSW |
15 |
44,061,212 (GRCm39) |
missense |
probably benign |
0.00 |
R8897:Trhr
|
UTSW |
15 |
44,060,736 (GRCm39) |
missense |
probably benign |
0.00 |
R9525:Trhr
|
UTSW |
15 |
44,060,873 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9614:Trhr
|
UTSW |
15 |
44,060,981 (GRCm39) |
missense |
probably benign |
0.09 |
Y5406:Trhr
|
UTSW |
15 |
44,061,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTCCAGTTACTTAATTGAGAGC -3'
(R):5'- TTGCAGAGCTTCCTGAAGGC -3'
Sequencing Primer
(F):5'- AATCCTGCTTTCTGAGTTCAAATTC -3'
(R):5'- CCTGAAGGCTGCACGAAATTTCTG -3'
|
Posted On |
2018-06-22 |