Incidental Mutation 'R0419:Tshr'
| ID |
36943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
038621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R0419 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91504643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 527
(M527K)
|
| 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: M527K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: M527K
| 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 |
0.6670 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
| 5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
| Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
| Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
| BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
| Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
| Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,861,307 (GRCm39) |
E164G |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,244,373 (GRCm39) |
T472I |
probably benign |
Het |
| Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,884,207 (GRCm39) |
I500V |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,225 (GRCm39) |
R224Q |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
| Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,463 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
| Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
| Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
| Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
| Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
| Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
| Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
| Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
| Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,519 (GRCm39) |
V32A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCATTCTGCTAACCAGCCACTAC -3'
(R):5'- CGCCATGCACATGAAGTCAGTGAAG -3'
Sequencing Primer
(F):5'- CTACAAATTGACCGTGCCG -3'
(R):5'- GGACCGTGATGTAGATCTTCACATAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation