Incidental Mutation 'Y5406:Trhr'
ID |
201559 |
Institutional Source |
Beutler Lab
|
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 # |
Y5406 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
44059531-44099308 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44061037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 186
(N186D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038856]
[ENSMUST00000110289]
[ENSMUST00000226626]
[ENSMUST00000227505]
|
AlphaFold |
P21761 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038856
AA Change: N186D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000036320 Gene: ENSMUSG00000038760 AA Change: N186D
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 |
probably benign
Transcript: ENSMUST00000110289
AA Change: N186D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000105918 Gene: ENSMUSG00000038760 AA Change: N186D
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 |
probably benign
Transcript: ENSMUST00000226626
AA Change: N186D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227505
|
Meta Mutation Damage Score |
0.0896 |
Coding Region Coverage |
- 1x: 97.2%
- 3x: 96.4%
- 10x: 93.6%
- 20x: 87.2%
|
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: 6 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Col22a1 |
G |
A |
15: 71,671,364 (GRCm39) |
P999S |
unknown |
Het |
Kcnc1 |
G |
A |
7: 46,076,803 (GRCm39) |
V202I |
probably benign |
Het |
Lactb |
G |
T |
9: 66,863,437 (GRCm39) |
Y392* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,390,152 (GRCm39) |
L3089H |
probably damaging |
Het |
Orc6 |
A |
G |
8: 86,034,302 (GRCm39) |
E175G |
probably damaging |
Het |
Plod1 |
G |
A |
4: 148,015,644 (GRCm39) |
P135L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTACATAGCAATCTGTCACCCC -3'
(R):5'- TGCTTACCTGCTTCCTGGAAG -3'
Sequencing Primer
(F):5'- CATCAAAGCCCAGTTTCTCTG -3'
(R):5'- ACCTGCTTCCTGGAAGATACAGTG -3'
|
Posted On |
2014-06-23 |