Incidental Mutation 'R4903:Tshr'
ID |
377974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tshr
|
Ensembl Gene |
ENSMUSG00000020963 |
Gene Name |
thyroid stimulating hormone receptor |
Synonyms |
hypothroid, pet, hyt |
MMRRC Submission |
042506-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.238)
|
Stock # |
R4903 (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 91367962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 35
(D35G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021343]
[ENSMUST00000021346]
[ENSMUST00000221216]
|
AlphaFold |
P47750 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021343
AA Change: D35G
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000021343 Gene: ENSMUSG00000020963 AA Change: D35G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:LRR_5
|
53 |
143 |
1e-6 |
PFAM |
Pfam:LRR_5
|
137 |
228 |
3.8e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021346
AA Change: D35G
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000021346 Gene: ENSMUSG00000020963 AA Change: D35G
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: ENSMUST00000221216
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
G |
T |
5: 138,645,119 (GRCm39) |
E335* |
probably null |
Het |
Abca9 |
A |
G |
11: 110,037,827 (GRCm39) |
Y508H |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,546,691 (GRCm39) |
L1347H |
probably damaging |
Het |
Acox3 |
A |
G |
5: 35,747,080 (GRCm39) |
N166D |
probably damaging |
Het |
Adam5 |
T |
C |
8: 25,276,248 (GRCm39) |
Y473C |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,627,817 (GRCm39) |
I207M |
possibly damaging |
Het |
Akna |
C |
A |
4: 63,292,274 (GRCm39) |
R1130S |
probably damaging |
Het |
Alg12 |
A |
T |
15: 88,698,743 (GRCm39) |
I194N |
probably damaging |
Het |
Alk |
T |
A |
17: 72,176,558 (GRCm39) |
H1582L |
probably damaging |
Het |
Atn1 |
G |
C |
6: 124,720,220 (GRCm39) |
|
probably benign |
Het |
Carhsp1 |
T |
C |
16: 8,478,864 (GRCm39) |
T130A |
probably damaging |
Het |
Chrna3 |
T |
C |
9: 54,922,810 (GRCm39) |
T333A |
probably benign |
Het |
Ctsr |
T |
A |
13: 61,310,945 (GRCm39) |
I34L |
probably benign |
Het |
Cxcl16 |
A |
G |
11: 70,346,519 (GRCm39) |
V208A |
probably benign |
Het |
Dars2 |
G |
C |
1: 160,878,941 (GRCm39) |
P362R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,894,812 (GRCm39) |
E3459G |
probably damaging |
Het |
Dus2 |
G |
A |
8: 106,771,437 (GRCm39) |
D188N |
probably benign |
Het |
Ece2 |
C |
T |
16: 20,449,972 (GRCm39) |
R189* |
probably null |
Het |
Egfr |
A |
T |
11: 16,858,949 (GRCm39) |
D976V |
probably damaging |
Het |
Egr2 |
T |
A |
10: 67,374,163 (GRCm39) |
I51N |
probably damaging |
Het |
Exoc3l4 |
A |
G |
12: 111,395,155 (GRCm39) |
H591R |
probably benign |
Het |
G2e3 |
A |
G |
12: 51,418,413 (GRCm39) |
I603V |
probably benign |
Het |
Gm11564 |
A |
C |
11: 99,705,858 (GRCm39) |
C191G |
unknown |
Het |
Gpatch8 |
A |
G |
11: 102,370,959 (GRCm39) |
S860P |
unknown |
Het |
Gprin1 |
C |
G |
13: 54,885,742 (GRCm39) |
W844S |
probably damaging |
Het |
Hhipl2 |
T |
A |
1: 183,207,698 (GRCm39) |
Y252* |
probably null |
Het |
Hormad1 |
T |
A |
3: 95,492,531 (GRCm39) |
|
probably null |
Het |
Hrg |
A |
G |
16: 22,779,901 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
C |
T |
8: 72,947,372 (GRCm39) |
A23V |
probably benign |
Het |
Ints6 |
A |
G |
14: 62,939,911 (GRCm39) |
L593P |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,252,436 (GRCm39) |
S129G |
probably benign |
Het |
Kif1a |
C |
T |
1: 92,949,456 (GRCm39) |
E1579K |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,049,789 (GRCm39) |
I579N |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,832,482 (GRCm39) |
|
probably null |
Het |
Man2c1 |
C |
A |
9: 57,046,240 (GRCm39) |
Q465K |
probably benign |
Het |
Map3k5 |
T |
A |
10: 19,994,235 (GRCm39) |
L1043Q |
probably null |
Het |
Map4k1 |
A |
T |
7: 28,682,427 (GRCm39) |
H16L |
probably benign |
Het |
Mapk8ip3 |
A |
G |
17: 25,120,183 (GRCm39) |
S946P |
probably benign |
Het |
Mrpl50 |
T |
C |
4: 49,514,488 (GRCm39) |
Y61C |
probably damaging |
Het |
Myf5 |
A |
T |
10: 107,321,733 (GRCm39) |
C20* |
probably null |
Het |
Nek11 |
T |
C |
9: 105,191,921 (GRCm39) |
K163R |
possibly damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,383 (GRCm39) |
H53L |
probably benign |
Het |
Or4c105 |
A |
T |
2: 88,648,342 (GRCm39) |
I276L |
probably benign |
Het |
Pcdhga9 |
C |
A |
18: 37,872,058 (GRCm39) |
T629K |
probably damaging |
Het |
Pglyrp1 |
A |
G |
7: 18,624,128 (GRCm39) |
N137S |
probably benign |
Het |
Pip5k1a |
T |
C |
3: 94,978,094 (GRCm39) |
I275V |
probably benign |
Het |
Pitpnm2 |
T |
A |
5: 124,290,668 (GRCm39) |
Y6F |
probably damaging |
Het |
Pkd1 |
T |
G |
17: 24,790,976 (GRCm39) |
V1057G |
probably benign |
Het |
Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,532,093 (GRCm39) |
M586K |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,557,030 (GRCm39) |
|
probably null |
Het |
Rasal3 |
C |
T |
17: 32,616,357 (GRCm39) |
C278Y |
probably damaging |
Het |
Rbm34 |
T |
C |
8: 127,678,087 (GRCm39) |
D269G |
possibly damaging |
Het |
Rnf32 |
G |
A |
5: 29,403,576 (GRCm39) |
R7H |
probably benign |
Het |
Sema3d |
A |
G |
5: 12,613,125 (GRCm39) |
K401E |
probably benign |
Het |
Sema7a |
T |
C |
9: 57,862,378 (GRCm39) |
Y194H |
probably benign |
Het |
Senp5 |
A |
T |
16: 31,802,117 (GRCm39) |
Y585N |
probably damaging |
Het |
Serpinb9 |
T |
A |
13: 33,192,847 (GRCm39) |
W135R |
probably damaging |
Het |
Shbg |
C |
T |
11: 69,505,912 (GRCm39) |
S365N |
probably benign |
Het |
Slc39a6 |
A |
T |
18: 24,730,925 (GRCm39) |
S65T |
probably damaging |
Het |
Stk3 |
T |
C |
15: 34,959,212 (GRCm39) |
E320G |
probably damaging |
Het |
Syk |
T |
A |
13: 52,765,117 (GRCm39) |
H81Q |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,658,437 (GRCm39) |
W1470R |
probably damaging |
Het |
Thada |
C |
A |
17: 84,559,828 (GRCm39) |
V1450L |
possibly damaging |
Het |
Tmem241 |
A |
G |
18: 12,237,176 (GRCm39) |
S87P |
probably damaging |
Het |
Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
Trim40 |
T |
C |
17: 37,194,117 (GRCm39) |
E192G |
possibly damaging |
Het |
Trip11 |
A |
T |
12: 101,853,065 (GRCm39) |
|
probably null |
Het |
Trmt2a |
T |
A |
16: 18,067,418 (GRCm39) |
C30* |
probably null |
Het |
Tssc4 |
T |
C |
7: 142,624,322 (GRCm39) |
V210A |
probably damaging |
Het |
Ttk |
T |
A |
9: 83,747,201 (GRCm39) |
I680N |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl4a |
T |
C |
18: 80,250,493 (GRCm39) |
F30L |
probably damaging |
Het |
Ubac2 |
G |
T |
14: 122,231,650 (GRCm39) |
C192F |
probably benign |
Het |
Vmn1r12 |
A |
G |
6: 57,136,502 (GRCm39) |
T156A |
possibly damaging |
Het |
Zfp747l1 |
T |
A |
7: 126,984,578 (GRCm39) |
T175S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACTTGAGAGCCTCTCCTTC -3'
(R):5'- AGCACAACTCCCAGGTATCTTG -3'
Sequencing Primer
(F):5'- TCTCCAGCGATGAGGTCACAG -3'
(R):5'- CTTGGCTACTCACAGAGT -3'
|
Posted On |
2016-04-15 |