Incidental Mutation 'P4717OSA:Trhr'
| ID |
44005 |
| 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 # |
P4717OSA (G1)
of strain
634
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
44059531-44099308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44060831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 117
(T117K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038856]
[ENSMUST00000110289]
[ENSMUST00000226626]
[ENSMUST00000227505]
|
| AlphaFold |
P21761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038856
AA Change: T117K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: T117K
| 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 damaging
Transcript: ENSMUST00000110289
AA Change: T117K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: T117K
| 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 damaging
Transcript: ENSMUST00000226626
AA Change: T117K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227505
|
| Meta Mutation Damage Score |
0.1142 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (27/27) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acsm5 |
A |
T |
7: 119,131,195 (GRCm39) |
E204D |
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Bbof1 |
G |
A |
12: 84,473,734 (GRCm39) |
A355T |
probably damaging |
Het |
| Capn10 |
G |
T |
1: 92,867,116 (GRCm39) |
Q115H |
probably damaging |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,336,357 (GRCm39) |
F236L |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,677,317 (GRCm39) |
I527T |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,795,850 (GRCm39) |
L452P |
probably damaging |
Het |
| Mcoln3 |
T |
G |
3: 145,830,504 (GRCm39) |
V78G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,797,483 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,237,677 (GRCm39) |
M193L |
probably benign |
Het |
| Olig1 |
A |
T |
16: 91,066,877 (GRCm39) |
Y38F |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,386,895 (GRCm39) |
V1256A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,643 (GRCm39) |
I1570F |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,241,267 (GRCm39) |
Y154H |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,456 (GRCm39) |
D468G |
probably damaging |
Het |
| Relt |
G |
A |
7: 100,496,788 (GRCm39) |
R360C |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGTGAAATGAACCAAACCGAGC -3'
(R):5'- GCTGATGTTGAGATCCAGCAGGAAG -3'
Sequencing Primer
(F):5'- GGCATTGTGGGCAACATC -3'
(R):5'- GAACCAGAGCATACAGTAAATGGATG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation