Incidental Mutation 'R7769:Tshr'
| ID |
598492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
045825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R7769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91505044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 661
(I661V)
|
| 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: I661V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: I661V
| 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 damaging
Transcript: ENSMUST00000186437
AA Change: I69V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139632
Gene: ENSMUSG00000020963
AA Change: I69V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (71/74) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
| Abhd14b |
T |
C |
9: 106,328,819 (GRCm39) |
Y147H |
probably damaging |
Het |
| Adam26b |
C |
A |
8: 43,974,732 (GRCm39) |
R90L |
probably benign |
Het |
| Agt |
A |
T |
8: 125,291,289 (GRCm39) |
M6K |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,109,644 (GRCm39) |
S5P |
probably benign |
Het |
| Arhgef38 |
A |
C |
3: 132,855,383 (GRCm39) |
S235A |
unknown |
Het |
| Cabp5 |
A |
G |
7: 13,134,658 (GRCm39) |
D31G |
probably benign |
Het |
| Cacna1h |
T |
A |
17: 25,604,779 (GRCm39) |
D1178V |
probably damaging |
Het |
| Ccdc88a |
A |
T |
11: 29,432,381 (GRCm39) |
E1199D |
probably damaging |
Het |
| Cd244a |
A |
T |
1: 171,404,873 (GRCm39) |
I242F |
probably benign |
Het |
| Clpb |
G |
T |
7: 101,371,924 (GRCm39) |
R220L |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,610,319 (GRCm39) |
R638H |
probably damaging |
Het |
| Cnr1 |
A |
T |
4: 33,944,892 (GRCm39) |
M427L |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,579,390 (GRCm39) |
|
probably benign |
Het |
| Epb41l2 |
A |
T |
10: 25,369,471 (GRCm39) |
T597S |
probably benign |
Het |
| Epb41l3 |
T |
C |
17: 69,545,421 (GRCm39) |
Y163H |
probably damaging |
Het |
| Fgg |
A |
G |
3: 82,920,433 (GRCm39) |
|
probably null |
Het |
| Gm37240 |
A |
T |
3: 84,417,232 (GRCm39) |
D162E |
possibly damaging |
Het |
| Gm44511 |
T |
A |
6: 128,797,240 (GRCm39) |
T83S |
probably benign |
Het |
| Gm6685 |
T |
A |
11: 28,289,252 (GRCm39) |
Y188F |
probably benign |
Het |
| Gprin2 |
A |
T |
14: 33,917,570 (GRCm39) |
C67S |
probably benign |
Het |
| Grk6 |
A |
G |
13: 55,598,820 (GRCm39) |
D140G |
probably benign |
Het |
| Hps3 |
T |
C |
3: 20,072,972 (GRCm39) |
|
probably null |
Het |
| Hspb7 |
T |
C |
4: 141,151,335 (GRCm39) |
V159A |
possibly damaging |
Het |
| Ibsp |
A |
G |
5: 104,453,871 (GRCm39) |
N70D |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,458,050 (GRCm39) |
N196D |
probably damaging |
Het |
| Igfn1 |
A |
T |
1: 135,910,143 (GRCm39) |
F147Y |
possibly damaging |
Het |
| Iqca1 |
T |
G |
1: 90,005,532 (GRCm39) |
D492A |
possibly damaging |
Het |
| Klhl42 |
T |
C |
6: 146,993,358 (GRCm39) |
L110P |
possibly damaging |
Het |
| Krt12 |
C |
T |
11: 99,308,852 (GRCm39) |
R395Q |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Mttp |
A |
C |
3: 137,808,873 (GRCm39) |
L730R |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,571,803 (GRCm39) |
I239L |
unknown |
Het |
| Myo15a |
T |
C |
11: 60,399,975 (GRCm39) |
F1723L |
|
Het |
| Niban2 |
A |
G |
2: 32,809,844 (GRCm39) |
T314A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,090,004 (GRCm39) |
D1137G |
|
Het |
| Nsf |
C |
T |
11: 103,819,665 (GRCm39) |
V35M |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,648,207 (GRCm39) |
I646K |
possibly damaging |
Het |
| Nwd2 |
A |
G |
5: 63,961,847 (GRCm39) |
N477S |
probably damaging |
Het |
| Or1p1 |
T |
A |
11: 74,179,589 (GRCm39) |
V39E |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,934,924 (GRCm39) |
D62G |
probably damaging |
Het |
| Palb2 |
G |
T |
7: 121,727,638 (GRCm39) |
D77E |
probably benign |
Het |
| Pcmtd2 |
T |
C |
2: 181,493,494 (GRCm39) |
V233A |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pgr |
C |
T |
9: 8,946,856 (GRCm39) |
T699I |
possibly damaging |
Het |
| Pknox2 |
C |
A |
9: 36,806,602 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
T |
C |
9: 124,439,087 (GRCm38) |
H110R |
|
Het |
| Psmd11 |
T |
A |
11: 80,325,408 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,736,001 (GRCm39) |
N59S |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,588,921 (GRCm39) |
D1662E |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,278,239 (GRCm39) |
Y180C |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,033,900 (GRCm39) |
S393G |
probably benign |
Het |
| Rtn4r |
C |
T |
16: 17,969,153 (GRCm39) |
P194S |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,798,210 (GRCm39) |
G944D |
probably damaging |
Het |
| Scamp3 |
A |
G |
3: 89,085,298 (GRCm39) |
D23G |
probably damaging |
Het |
| Secisbp2l |
CTGGG |
C |
2: 125,613,465 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,232 (GRCm39) |
I529T |
probably damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,564,473 (GRCm39) |
D502V |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,880,855 (GRCm39) |
I323T |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,007,930 (GRCm39) |
S279P |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,826,880 (GRCm39) |
V949D |
possibly damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,708,144 (GRCm39) |
S386P |
probably benign |
Het |
| Syt14 |
A |
G |
1: 192,666,632 (GRCm39) |
S91P |
unknown |
Het |
| Thpo |
C |
T |
16: 20,544,401 (GRCm39) |
A211T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,992,530 (GRCm39) |
D716V |
probably damaging |
Het |
| Trbv26 |
A |
G |
6: 41,204,481 (GRCm39) |
Y8C |
probably benign |
Het |
| Uvrag |
G |
A |
7: 98,628,928 (GRCm39) |
P380S |
probably damaging |
Het |
| Vkorc1 |
G |
T |
7: 127,493,696 (GRCm39) |
Y88* |
probably null |
Het |
| Vmn1r63 |
C |
T |
7: 5,806,369 (GRCm39) |
V88M |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,708,763 (GRCm39) |
Y37H |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,983 (GRCm39) |
D31G |
probably benign |
Het |
| Zc3h12d |
G |
A |
10: 7,743,390 (GRCm39) |
A387T |
probably benign |
Het |
| Zfp438 |
C |
T |
18: 5,213,377 (GRCm39) |
R527H |
possibly 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 |
|
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 |
|
|
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'- CGTTCTGCTGCTCAATGTTG -3'
(R):5'- TACCAGTGCTATTGTTGGGAC -3'
Sequencing Primer
(F):5'- CTATGTGAAGATCTACATCACGGTCC -3'
(R):5'- CAGTGCTATTGTTGGGACAGACTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation