Incidental Mutation 'IGL02439:Tshr'
| ID |
293386 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
IGL02439
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91504321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 420
(V420M)
|
| 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: V420M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: V420M
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
A |
T |
14: 4,348,890 (GRCm38) |
Y17F |
probably benign |
Het |
| Ablim2 |
A |
C |
5: 36,015,206 (GRCm39) |
T507P |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,647 (GRCm39) |
Y1426C |
possibly damaging |
Het |
| Cftr |
T |
A |
6: 18,258,237 (GRCm39) |
Y592* |
probably null |
Het |
| Eogt |
C |
T |
6: 97,120,934 (GRCm39) |
G93D |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,180 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,874,582 (GRCm39) |
I1329V |
probably benign |
Het |
| Gal3st1 |
T |
C |
11: 3,948,110 (GRCm39) |
F106L |
possibly damaging |
Het |
| Gulp1 |
A |
T |
1: 44,820,164 (GRCm39) |
I216F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,455,721 (GRCm39) |
|
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,724,268 (GRCm39) |
T453I |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,417,999 (GRCm39) |
D844G |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,289,046 (GRCm39) |
C93S |
probably damaging |
Het |
| Lst1 |
T |
C |
17: 35,405,958 (GRCm39) |
I32V |
probably benign |
Het |
| Malsu1 |
T |
A |
6: 49,052,121 (GRCm39) |
Y114N |
probably damaging |
Het |
| Ndufa5 |
A |
T |
6: 24,519,201 (GRCm39) |
V41E |
probably damaging |
Het |
| Nme6 |
C |
A |
9: 109,670,999 (GRCm39) |
P80T |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,444 (GRCm39) |
R358S |
probably benign |
Het |
| Or5ac20 |
A |
G |
16: 59,104,818 (GRCm39) |
L14P |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,473,532 (GRCm39) |
D635G |
probably damaging |
Het |
| Pcf11 |
C |
T |
7: 92,311,049 (GRCm39) |
S313N |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,015 (GRCm39) |
H309R |
probably benign |
Het |
| Pdk2 |
A |
T |
11: 94,930,323 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,060,758 (GRCm39) |
S1606G |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,910 (GRCm39) |
I230T |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,914 (GRCm39) |
R1381Q |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,027,174 (GRCm39) |
K479E |
possibly damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,567,361 (GRCm39) |
S892L |
probably damaging |
Het |
| Slc39a9 |
G |
T |
12: 80,713,350 (GRCm39) |
A83S |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,726,808 (GRCm39) |
Y483C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tas2r131 |
A |
G |
6: 132,934,732 (GRCm39) |
S26P |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,569,063 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,104,641 (GRCm39) |
E27G |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,022,978 (GRCm39) |
G1256E |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,421 (GRCm39) |
I322F |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,596,431 (GRCm39) |
A20161S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,654,455 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
T |
A |
18: 5,213,216 (GRCm39) |
S581C |
probably damaging |
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 |
|
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 |
|
R5949:Tshr
|
UTSW |
12 |
91,503,992 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation