Incidental Mutation 'R5949:Tshr'
| ID |
472345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
044139-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R5949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91503992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 310
(R310H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021346]
[ENSMUST00000186437]
[ENSMUST00000221216]
|
| AlphaFold |
P47750 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021346
AA Change: R310H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: R310H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:LRR_5
|
53 |
153 |
9.5e-7 |
PFAM |
|
Pfam:LRR_5
|
148 |
244 |
5.1e-5 |
PFAM |
|
Pfam:7tm_1
|
431 |
678 |
2.6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186437
|
| SMART Domains |
Protein: ENSMUSP00000139632
Gene: ENSMUSG00000020963
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
86 |
6.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221216
|
| Meta Mutation Damage Score |
0.2098 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
92% (58/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,655,032 (GRCm39) |
Y1452C |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,367,386 (GRCm39) |
H552L |
possibly damaging |
Het |
| Alms1-ps1 |
A |
T |
6: 85,698,943 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap21 |
A |
G |
2: 20,853,852 (GRCm39) |
S1837P |
probably damaging |
Het |
| Atad5 |
G |
T |
11: 79,986,835 (GRCm39) |
E641* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,247,242 (GRCm39) |
T276S |
probably benign |
Het |
| Bptf |
A |
G |
11: 107,001,915 (GRCm39) |
I399T |
probably damaging |
Het |
| Carf |
A |
C |
1: 60,178,472 (GRCm39) |
K295T |
probably damaging |
Het |
| Cd209d |
T |
A |
8: 3,927,949 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Cdh2 |
T |
A |
18: 16,734,687 (GRCm39) |
I779F |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,247 (GRCm39) |
R988H |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,660,887 (GRCm39) |
H600Q |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,971,730 (GRCm39) |
T487M |
probably damaging |
Het |
| Dcps |
A |
G |
9: 35,036,557 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,679,874 (GRCm39) |
C427R |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,661,747 (GRCm39) |
K187E |
possibly damaging |
Het |
| Emb |
A |
G |
13: 117,403,928 (GRCm39) |
I227V |
probably benign |
Het |
| Fam193a |
T |
A |
5: 34,597,816 (GRCm39) |
S538T |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Galnt6 |
A |
T |
15: 100,594,431 (GRCm39) |
N533K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,886,147 (GRCm39) |
D499G |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,440,904 (GRCm39) |
N421D |
probably benign |
Het |
| Ifng |
G |
C |
10: 118,278,529 (GRCm39) |
M63I |
probably benign |
Het |
| Ighv1-43 |
A |
G |
12: 114,910,002 (GRCm39) |
M1T |
probably null |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,385,476 (GRCm39) |
C299S |
probably damaging |
Het |
| Lrrn1 |
G |
T |
6: 107,544,465 (GRCm39) |
V88L |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 130,985,742 (GRCm39) |
V173A |
possibly damaging |
Het |
| Mrap2 |
T |
G |
9: 87,064,658 (GRCm39) |
V133G |
probably benign |
Het |
| Nlrp1a |
T |
A |
11: 70,989,815 (GRCm39) |
D984V |
probably damaging |
Het |
| Or4c125 |
A |
G |
2: 89,170,229 (GRCm39) |
V139A |
probably damaging |
Het |
| Or5p59 |
T |
C |
7: 107,703,404 (GRCm39) |
L296P |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,996 (GRCm39) |
Y488H |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,536,284 (GRCm39) |
P313L |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,296,179 (GRCm39) |
C839R |
probably damaging |
Het |
| Rdh5 |
C |
A |
10: 128,754,136 (GRCm39) |
R29L |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,554,429 (GRCm39) |
D90G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,333,905 (GRCm39) |
Y3038C |
probably damaging |
Het |
| Sec14l2 |
A |
T |
11: 4,058,972 (GRCm39) |
V191D |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,690,759 (GRCm39) |
Y118C |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,222,934 (GRCm39) |
|
probably null |
Het |
| Stab2 |
A |
G |
10: 86,805,713 (GRCm39) |
L211P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,038,876 (GRCm39) |
C289R |
probably benign |
Het |
| Tfpi |
T |
C |
2: 84,275,092 (GRCm39) |
E172G |
probably benign |
Het |
| Tmem106b |
T |
A |
6: 13,083,418 (GRCm39) |
M229K |
probably damaging |
Het |
| Tsfm |
G |
A |
10: 126,864,244 (GRCm39) |
T157M |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,608,244 (GRCm39) |
A17893V |
possibly damaging |
Het |
| Vps39 |
A |
G |
2: 120,159,149 (GRCm39) |
Y380H |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,559,309 (GRCm39) |
R383C |
probably damaging |
Het |
| Zfp719 |
C |
T |
7: 43,233,541 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tshr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00647:Tshr
|
APN |
12 |
91,504,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01503:Tshr
|
APN |
12 |
91,478,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Tshr
|
APN |
12 |
91,486,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02109:Tshr
|
APN |
12 |
91,504,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02199:Tshr
|
APN |
12 |
91,505,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02439:Tshr
|
APN |
12 |
91,504,321 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02696:Tshr
|
APN |
12 |
91,460,103 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03170:Tshr
|
APN |
12 |
91,504,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03208:Tshr
|
APN |
12 |
91,500,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
freckle
|
UTSW |
12 |
91,505,000 (GRCm39) |
nonsense |
probably null |
|
|
R0067_Tshr_655
|
UTSW |
12 |
91,472,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Tshr
|
UTSW |
12 |
91,504,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0017:Tshr
|
UTSW |
12 |
91,504,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0067:Tshr
|
UTSW |
12 |
91,472,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0419:Tshr
|
UTSW |
12 |
91,504,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Tshr
|
UTSW |
12 |
91,505,000 (GRCm39) |
nonsense |
probably null |
|
|
R0724:Tshr
|
UTSW |
12 |
91,505,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Tshr
|
UTSW |
12 |
91,504,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1188:Tshr
|
UTSW |
12 |
91,468,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1548:Tshr
|
UTSW |
12 |
91,500,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Tshr
|
UTSW |
12 |
91,504,115 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1808:Tshr
|
UTSW |
12 |
91,504,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1934:Tshr
|
UTSW |
12 |
91,503,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3980:Tshr
|
UTSW |
12 |
91,504,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4008:Tshr
|
UTSW |
12 |
91,504,268 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4828:Tshr
|
UTSW |
12 |
91,504,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Tshr
|
UTSW |
12 |
91,367,962 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4958:Tshr
|
UTSW |
12 |
91,504,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Tshr
|
UTSW |
12 |
91,503,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Tshr
|
UTSW |
12 |
91,505,008 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6147:Tshr
|
UTSW |
12 |
91,505,009 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6454:Tshr
|
UTSW |
12 |
91,505,323 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6572:Tshr
|
UTSW |
12 |
91,505,134 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6884:Tshr
|
UTSW |
12 |
91,504,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Tshr
|
UTSW |
12 |
91,500,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7403:Tshr
|
UTSW |
12 |
91,464,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Tshr
|
UTSW |
12 |
91,464,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7741:Tshr
|
UTSW |
12 |
91,500,743 (GRCm39) |
nonsense |
probably null |
|
|
R7769:Tshr
|
UTSW |
12 |
91,505,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Tshr
|
UTSW |
12 |
91,472,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7934:Tshr
|
UTSW |
12 |
91,478,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8060:Tshr
|
UTSW |
12 |
91,505,134 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8168:Tshr
|
UTSW |
12 |
91,478,739 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8552:Tshr
|
UTSW |
12 |
91,504,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8762:Tshr
|
UTSW |
12 |
91,504,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Tshr
|
UTSW |
12 |
91,468,829 (GRCm39) |
intron |
probably benign |
|
|
R8918:Tshr
|
UTSW |
12 |
91,504,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8945:Tshr
|
UTSW |
12 |
91,504,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Tshr
|
UTSW |
12 |
91,504,548 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9056:Tshr
|
UTSW |
12 |
91,474,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Tshr
|
UTSW |
12 |
91,478,737 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9126:Tshr
|
UTSW |
12 |
91,503,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Tshr
|
UTSW |
12 |
91,474,518 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9488:Tshr
|
UTSW |
12 |
91,504,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Tshr
|
UTSW |
12 |
91,504,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Tshr
|
UTSW |
12 |
91,504,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:Tshr
|
UTSW |
12 |
91,504,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tshr
|
UTSW |
12 |
91,505,265 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGACCCTGCAGAATTCATC -3'
(R):5'- AGTCATAGTGGCTCTCGAAGG -3'
Sequencing Primer
(F):5'- CTGCAGAATTCATCACACCATG -3'
(R):5'- TTGAGCTCTTGGCCGAAAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation