Mutagenetix > Incidental Mutations

Incidental Mutation 'R1563:Trhr'

170790

Institutional Source

Beutler Lab

Gene Symbol

Trhr

Ensembl Gene

ENSMUSG00000038760

Gene Name

thyrotropin releasing hormone receptor

Synonyms

TRH-R1

MMRRC Submission

039602-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44196135-44235912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44197101 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 6 (V6I)

Ref Sequence

ENSEMBL: ENSMUSP00000154140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038856] [ENSMUST00000110289] [ENSMUST00000226626] [ENSMUST00000227505]

Predicted Effect

probably benign
Transcript: ENSMUST00000038856
AA Change: V6I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: V6I

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	33	177	1.6e-7	PFAM
Pfam:7TM_GPCR_Srsx	36	335	4.8e-12	PFAM
Pfam:7tm_1	42	320	1.6e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110289
AA Change: V6I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: V6I

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	33	175	1.9e-7	PFAM
Pfam:7TM_GPCR_Srsx	36	335	4.8e-12	PFAM
Pfam:7tm_1	42	320	1.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226626
AA Change: V6I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227505
AA Change: V6I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0612

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

98% (82/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice are fertile and display decreased thyroxine, triiodothyronine, and prolactin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,719,534	Y707C	probably damaging	Het
4930519G04Rik	T	C	5: 114,863,508	M22T	probably benign	Het
A930018M24Rik	A	G	14: 50,897,119	L22P	probably damaging	Het
Aipl1	A	T	11: 72,036,712	M59K	probably damaging	Het
Atg2b	T	C	12: 105,623,488	I1835V	probably damaging	Het
Cacna1i	T	C	15: 80,321,188	V115A	probably damaging	Het
Cacna1i	A	T	15: 80,389,855		probably benign	Het
Catsperb	T	A	12: 101,588,102	M685K	probably damaging	Het
Cdh10	T	A	15: 18,986,767	Y361*	probably null	Het
Clcn4	C	T	7: 7,293,982	C219Y	probably damaging	Het
Cpeb2	G	A	5: 43,285,737	V924M	probably damaging	Het
Cpxm2	T	C	7: 132,143,682	E138G	probably benign	Het
Dennd1a	T	C	2: 37,858,429	Y346C	probably damaging	Het
Dnah8	T	A	17: 30,635,664	L100Q	probably benign	Het
Dnajc6	A	C	4: 101,599,137	N76T	probably damaging	Het
Ehbp1	A	G	11: 22,059,231	L954P	probably damaging	Het
Eral1	A	T	11: 78,075,406	D315E	probably benign	Het
Fam129a	A	T	1: 151,715,673	Y522F	possibly damaging	Het
Fbln2	G	T	6: 91,263,383	E724*	probably null	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Fzd3	T	A	14: 65,235,724	E198D	probably damaging	Het
Fzd9	T	C	5: 135,250,554	N159S	probably damaging	Het
Galnt6	T	A	15: 100,703,378	Q340L	probably benign	Het
Gm20939	C	T	17: 94,877,094	A390V	probably damaging	Het
Gm5435	T	G	12: 82,495,690		noncoding transcript	Het
Gm9949	A	C	18: 62,184,018		probably benign	Het
Gprc5b	G	A	7: 118,983,761	T295I	probably benign	Het
Gria2	G	T	3: 80,691,397	Q777K	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Haao	T	C	17: 83,834,889	T174A	probably benign	Het
Hes6	A	T	1: 91,413,136	M1K	probably null	Het
Hook3	G	T	8: 26,110,752	Q43K	probably benign	Het
Klhl35	T	C	7: 99,471,695	V390A	probably damaging	Het
Myh9	G	T	15: 77,771,857	T1151K	probably damaging	Het
Nbn	A	T	4: 15,981,668	I587F	possibly damaging	Het
Nek4	A	G	14: 30,982,451	D696G	probably damaging	Het
Nlrp2	T	C	7: 5,308,725	D52G	probably damaging	Het
Oit3	G	T	10: 59,428,074	R413S	probably damaging	Het
Olfr1298	T	A	2: 111,645,682	H105L	probably damaging	Het
Olfr786	A	G	10: 129,437,711	M300V	probably benign	Het
Otof	T	C	5: 30,371,005	T1870A	probably benign	Het
Pdgfd	T	C	9: 6,293,939		probably null	Het
Pitrm1	T	C	13: 6,563,470	V526A	possibly damaging	Het
Pknox1	T	C	17: 31,595,282	S194P	probably damaging	Het
Plekhg5	T	C	4: 152,096,809	S8P	probably benign	Het
Ppp1r13b	T	C	12: 111,840,982	E157G	probably damaging	Het
Psmd3	C	T	11: 98,694,225	R466W	probably damaging	Het
Ptgfrn	A	G	3: 101,060,651	F542S	possibly damaging	Het
Ptgs1	A	T	2: 36,245,202	M393L	possibly damaging	Het
Qpct	T	A	17: 79,064,063	S87T	probably benign	Het
Qtrt1	T	A	9: 21,419,311	V269D	probably benign	Het
Rassf9	C	G	10: 102,544,960	R68G	probably damaging	Het
Rif1	A	G	2: 52,073,223	E25G	probably damaging	Het
Rnf213	T	C	11: 119,414,526	F528L	probably benign	Het
Sgip1	T	C	4: 102,966,260	S693P	probably benign	Het
She	A	G	3: 89,854,614	D460G	probably benign	Het
Sipa1l1	G	T	12: 82,341,161	V54L	probably benign	Het
Slc8a3	T	A	12: 81,205,007	D640V	possibly damaging	Het
Smurf1	T	A	5: 144,882,513	E601D	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Synpo2l	A	G	14: 20,661,278	S425P	probably damaging	Het
Tbck	T	C	3: 132,715,693	V187A	possibly damaging	Het
Tcf23	A	T	5: 30,968,831	H18L	probably benign	Het
Tcp11l2	A	G	10: 84,584,944	S16G	probably damaging	Het
Tekt2	T	A	4: 126,323,407	M233L	probably benign	Het
Tex14	T	C	11: 87,536,808	S29P	probably damaging	Het
Tjp2	T	A	19: 24,132,703	N59I	probably damaging	Het
Tlr5	G	A	1: 182,975,010	M626I	probably benign	Het
Tnn	A	T	1: 160,125,415	V685D	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim30c	C	T	7: 104,382,951	R301Q	probably benign	Het
Usp51	T	C	X: 153,007,992	I194T	probably benign	Het
Vmn2r63	A	G	7: 42,904,126	S569P	probably benign	Het
Vps26a	T	G	10: 62,464,680	I236L	probably benign	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zcchc14	T	C	8: 121,603,979	M882V	probably benign	Het
Zfhx2	A	G	14: 55,065,088	V1813A	probably benign	Het
Zswim2	C	T	2: 83,915,282	G604D	possibly damaging	Het
Zzef1	C	T	11: 72,848,733	Q669*	probably null	Het

Other mutations in Trhr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Trhr	APN	15	44229312	missense	probably damaging	1.00
IGL01800:Trhr	APN	15	44229207	missense	possibly damaging	0.69
IGL01945:Trhr	APN	15	44197144	missense	probably damaging	0.99
IGL02608:Trhr	APN	15	44197678	missense	probably benign	0.08
IGL02825:Trhr	APN	15	44229525	missense	possibly damaging	0.62
pushover	UTSW	15	44197627	missense	probably damaging	1.00
P4717OSA:Trhr	UTSW	15	44197435	missense	probably damaging	0.97
R0007:Trhr	UTSW	15	44229151	splice site	probably benign
R0276:Trhr	UTSW	15	44197086	start codon destroyed	probably null	0.74
R0620:Trhr	UTSW	15	44229500	missense	probably benign	0.01
R1728:Trhr	UTSW	15	44197153	missense	probably damaging	1.00
R1729:Trhr	UTSW	15	44197153	missense	probably damaging	1.00
R2144:Trhr	UTSW	15	44197183	missense	probably benign	0.44
R2167:Trhr	UTSW	15	44229242	missense	probably damaging	1.00
R3965:Trhr	UTSW	15	44197699	missense	possibly damaging	0.70
R4246:Trhr	UTSW	15	44233460	critical splice acceptor site	probably null
R4272:Trhr	UTSW	15	44197224	missense	probably damaging	0.97
R4378:Trhr	UTSW	15	44197627	missense	probably damaging	1.00
R4618:Trhr	UTSW	15	44197641	missense	probably benign	0.00
R5093:Trhr	UTSW	15	44197584	missense	probably damaging	0.96
R5388:Trhr	UTSW	15	44197477	missense	possibly damaging	0.91
R5496:Trhr	UTSW	15	44197536	missense	probably benign	0.00
R6341:Trhr	UTSW	15	44229298	nonsense	probably null
R6463:Trhr	UTSW	15	44197585	missense	probably benign	0.09
R6575:Trhr	UTSW	15	44229206	missense	possibly damaging	0.83
R7483:Trhr	UTSW	15	44229231	missense	probably damaging	1.00
Y5406:Trhr	UTSW	15	44197641	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCTTGACCATAGCACCCTTTG -3'
(R):5'- GAGATCTGCCACAGCCAGACTTAC -3'

Sequencing Primer
(F):5'- TTGGACCCAGTTTCAAAACAGG -3'
(R):5'- ACTTACCAGGTAACAGTTTGTAGGG -3'

Posted On

2014-04-13