Incidental Mutation 'IGL01800:Trhr'
ID |
155484 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trhr
|
Ensembl Gene |
ENSMUSG00000038760 |
Gene Name |
thyrotropin releasing hormone receptor |
Synonyms |
TRH-R1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01800
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
44059531-44099308 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44092603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 280
(M280T)
|
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: M280T
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000036320 Gene: ENSMUSG00000038760 AA Change: M280T
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: M280T
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105918 Gene: ENSMUSG00000038760 AA Change: M280T
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: M280T
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227505
|
Coding Region Coverage |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
Acsm3 |
T |
C |
7: 119,373,866 (GRCm39) |
S251P |
possibly damaging |
Het |
Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
Cspg5 |
A |
G |
9: 110,080,218 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
Gucy1b2 |
T |
C |
14: 62,649,104 (GRCm39) |
M476V |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
Ppargc1a |
A |
G |
5: 51,652,063 (GRCm39) |
Y212H |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,145,650 (GRCm39) |
L373P |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
Slc26a2 |
A |
T |
18: 61,334,801 (GRCm39) |
Y217* |
probably null |
Het |
Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
Ube2j1 |
A |
T |
4: 33,045,115 (GRCm39) |
E129D |
probably benign |
Het |
Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
possibly 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 |
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 |
R6575:Trhr
|
UTSW |
15 |
44,092,602 (GRCm39) |
missense |
possibly damaging |
0.83 |
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 |
|
Posted On |
2014-02-04 |