Incidental Mutation 'R3965:Trhr'
| ID |
312323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trhr
|
| Ensembl Gene |
ENSMUSG00000038760 |
| Gene Name |
thyrotropin releasing hormone receptor |
| Synonyms |
TRH-R1 |
| MMRRC Submission |
040934-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3965 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
44059531-44099308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44061095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 205
(I205N)
|
| 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: I205N
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: I205N
| 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: I205N
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: I205N
| 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: I205N
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227505
|
| Meta Mutation Damage Score |
0.1135 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (49/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| Ccdc121 |
T |
A |
5: 31,645,335 (GRCm39) |
C363S |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,531,174 (GRCm39) |
M809K |
probably damaging |
Het |
| Clic6 |
T |
C |
16: 92,295,732 (GRCm39) |
S131P |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,957,649 (GRCm39) |
I878V |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,365,765 (GRCm39) |
D998G |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,033,476 (GRCm39) |
Y232C |
unknown |
Het |
| Exoc2 |
G |
A |
13: 31,061,565 (GRCm39) |
S492L |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Grin2c |
G |
A |
11: 115,151,820 (GRCm39) |
R47W |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,557 (GRCm39) |
T1670A |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Mia2 |
T |
A |
12: 59,223,158 (GRCm39) |
S489T |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,373,016 (GRCm39) |
C276* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,946,783 (GRCm39) |
F16L |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,864,108 (GRCm39) |
G233R |
probably damaging |
Het |
| Or5b123 |
T |
C |
19: 13,596,565 (GRCm39) |
L13P |
probably damaging |
Het |
| Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,801,018 (GRCm39) |
M388V |
possibly damaging |
Het |
| Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
| Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,143,317 (GRCm39) |
K155E |
probably benign |
Het |
| Rxra |
T |
A |
2: 27,642,318 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
G |
9: 113,925,260 (GRCm39) |
E381G |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,662 (GRCm39) |
T82A |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,584,175 (GRCm39) |
H413Q |
probably benign |
Het |
| Tg |
T |
A |
15: 66,556,039 (GRCm39) |
D910E |
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,694,640 (GRCm39) |
T143K |
probably damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,342 (GRCm39) |
|
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,626,622 (GRCm39) |
C324Y |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,468,907 (GRCm39) |
V3022F |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,763,141 (GRCm39) |
V347I |
probably benign |
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 |
|
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'- AAAGCCCAGTTTCTCTGCAC -3'
(R):5'- GCTTACCTGCTTCCTGGAAG -3'
Sequencing Primer
(F):5'- AAAATCATCATCTTTGTCTGGGCC -3'
(R):5'- ACCTGCTTCCTGGAAGATACAGTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation