Incidental Mutation 'R5528:Tshr'
| ID |
433543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
043086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R5528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91503967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 302
(N302D)
|
| 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: N302D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: N302D
| 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 |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,772,260 (GRCm39) |
L483P |
probably benign |
Het |
| 4930519G04Rik |
T |
G |
5: 115,012,415 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 36,013,510 (GRCm39) |
Q148* |
probably null |
Het |
| Ap3s2 |
A |
T |
7: 79,530,234 (GRCm39) |
*194R |
probably null |
Het |
| Arpp21 |
C |
T |
9: 111,978,421 (GRCm39) |
A235T |
probably benign |
Het |
| C9orf72 |
T |
C |
4: 35,213,556 (GRCm39) |
D198G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,936,078 (GRCm39) |
D939G |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,320,610 (GRCm39) |
I734N |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,277,275 (GRCm39) |
N455K |
probably benign |
Het |
| Cpne8 |
C |
T |
15: 90,503,893 (GRCm39) |
V91I |
possibly damaging |
Het |
| Cstdc7 |
A |
G |
18: 42,306,727 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,279,295 (GRCm39) |
V448A |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Eeig1 |
G |
A |
2: 32,456,339 (GRCm39) |
A334T |
probably damaging |
Het |
| Eif2a |
G |
T |
3: 58,455,933 (GRCm39) |
D311Y |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,258,419 (GRCm39) |
E512K |
probably damaging |
Het |
| Esp15 |
A |
T |
17: 39,955,640 (GRCm39) |
Y69F |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,016,380 (GRCm39) |
Y203N |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,321 (GRCm39) |
Q248R |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,937 (GRCm39) |
V159E |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,810,024 (GRCm39) |
V20A |
possibly damaging |
Het |
| Kcnq3 |
T |
A |
15: 65,897,027 (GRCm39) |
D291V |
probably damaging |
Het |
| Klf11 |
A |
T |
12: 24,704,929 (GRCm39) |
M111L |
probably benign |
Het |
| Lama5 |
T |
A |
2: 179,836,356 (GRCm39) |
H1165L |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,139,522 (GRCm39) |
N702S |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,307,736 (GRCm39) |
V323A |
probably damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,068,735 (GRCm39) |
E352G |
possibly damaging |
Het |
| Ms4a19 |
T |
C |
19: 11,118,999 (GRCm39) |
S37G |
possibly damaging |
Het |
| Mtf2 |
T |
A |
5: 108,242,023 (GRCm39) |
L277Q |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,775,918 (GRCm39) |
N370D |
probably benign |
Het |
| Nlrp4e |
A |
C |
7: 23,036,316 (GRCm39) |
K723T |
probably benign |
Het |
| Nsun3 |
A |
G |
16: 62,555,689 (GRCm39) |
V279A |
possibly damaging |
Het |
| Pde6b |
A |
G |
5: 108,571,424 (GRCm39) |
D459G |
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,655 (GRCm39) |
I121V |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,386,803 (GRCm39) |
C811R |
probably damaging |
Het |
| Spaca6 |
A |
C |
17: 18,051,344 (GRCm39) |
I27L |
probably benign |
Het |
| Trmt1l |
G |
A |
1: 151,330,746 (GRCm39) |
V588I |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,961 (GRCm39) |
D279G |
probably damaging |
Het |
| Wnt3a |
T |
C |
11: 59,166,106 (GRCm39) |
N58S |
probably damaging |
Het |
| Zkscan8 |
A |
G |
13: 21,704,895 (GRCm39) |
V276A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCTTCATGCCACACTGG -3'
(R):5'- TTTTGAGCTCTTGGCCGAAACC -3'
Sequencing Primer
(F):5'- TCATGCCACACTGGTGCAC -3'
(R):5'- TCATCCTCTTGTTCTTCAAAGAAGAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation