Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Trhr'

235570

Institutional Source

Beutler Lab

Gene Symbol

Trhr

Ensembl Gene

ENSMUSG00000038760

Gene Name

thyrotropin releasing hormone receptor

Synonyms

TRH-R1

MMRRC Submission

040170-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44059531-44099308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44092638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 292 (L292F)

Ref Sequence

ENSEMBL: ENSMUSP00000154650 (fasta)

Gene Model

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

AlphaFold

P21761

Predicted Effect

probably damaging
Transcript: ENSMUST00000038856
AA Change: L292F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: L292F

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 damaging
Transcript: ENSMUST00000110289
AA Change: L292F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: L292F

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 damaging
Transcript: ENSMUST00000226626
AA Change: L292F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000227505

Meta Mutation Damage Score

0.1089

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,238,532 (GRCm39)	T710M	probably benign	Het
Acan	A	G	7: 78,749,705 (GRCm39)	E1492G	probably benign	Het
Acsl1	A	G	8: 46,986,627 (GRCm39)	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,217,983 (GRCm39)	T207K	probably benign	Het
Ahnak	A	T	19: 8,988,858 (GRCm39)	K3381*	probably null	Het
Art1	T	C	7: 101,756,031 (GRCm39)	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,799,012 (GRCm39)	W270R	probably benign	Het
Calm2	T	C	17: 87,742,573 (GRCm39)	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,831,452 (GRCm39)	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249 (GRCm39)	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,367,707 (GRCm39)	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,320,509 (GRCm39)	T768A	probably damaging	Het
Cog5	T	C	12: 31,887,288 (GRCm39)	F470L	probably damaging	Het
Cpne5	T	C	17: 29,381,306 (GRCm39)	D374G	probably damaging	Het
Disp2	A	C	2: 118,622,166 (GRCm39)	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,573,344 (GRCm39)		probably benign	Het
Eif2b3	T	A	4: 116,885,737 (GRCm39)	I93N	probably damaging	Het
Elfn2	C	A	15: 78,556,646 (GRCm39)	V634L	probably benign	Het
Fasl	T	G	1: 161,614,707 (GRCm39)	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,901 (GRCm39)	P701A	probably damaging	Het
Helz	T	A	11: 107,563,790 (GRCm39)		probably benign	Het
Kctd6	T	C	14: 8,222,683 (GRCm38)	V175A	probably benign	Het
Leo1	A	G	9: 75,352,991 (GRCm39)	N178S	probably benign	Het
Lhx6	C	A	2: 35,993,371 (GRCm39)	R80L	probably damaging	Het
Man1a2	A	G	3: 100,499,216 (GRCm39)	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,487,494 (GRCm39)	F231L	probably damaging	Het
Mknk2	A	G	10: 80,504,535 (GRCm39)	Y256H	probably damaging	Het
Msh6	A	G	17: 88,296,911 (GRCm39)	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,467,376 (GRCm39)	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,479,781 (GRCm39)	Q66K	probably benign	Het
Nsd2	T	A	5: 34,040,263 (GRCm39)	H933Q	probably damaging	Het
Or10h5	T	A	17: 33,434,542 (GRCm39)	I262F	probably damaging	Het
Or13p3	T	C	4: 118,567,252 (GRCm39)	V216A	probably benign	Het
Or2d3c	A	G	7: 106,525,797 (GRCm39)	Y290H	probably damaging	Het
Or5h23	T	A	16: 58,905,949 (GRCm39)	K299I	probably benign	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rassf6	C	T	5: 90,751,797 (GRCm39)	E308K	probably damaging	Het
Rb1	T	C	14: 73,449,091 (GRCm39)	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,113,852 (GRCm39)	I104F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnase6	A	C	14: 51,367,974 (GRCm39)	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,531,792 (GRCm39)	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,015,601 (GRCm39)	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,398,817 (GRCm39)	Y261*	probably null	Het
Supt6	G	A	11: 78,098,993 (GRCm39)	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,233,771 (GRCm39)		probably benign	Het
Telo2	A	G	17: 25,329,792 (GRCm39)	V240A	probably benign	Het
Trps1	G	A	15: 50,695,126 (GRCm39)	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429 (GRCm38)		probably benign	Het
Yeats2	T	C	16: 20,032,151 (GRCm39)		probably benign	Het
Zbtb39	G	A	10: 127,578,844 (GRCm39)	E473K	probably benign	Het
Zfp235	T	A	7: 23,840,387 (GRCm39)	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,056,063 (GRCm39)	P141Q	possibly damaging	Het

Other mutations in Trhr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Trhr	APN	15	44,092,708 (GRCm39)	missense	probably damaging	1.00
IGL01800:Trhr	APN	15	44,092,603 (GRCm39)	missense	possibly damaging	0.69
IGL01945:Trhr	APN	15	44,060,540 (GRCm39)	missense	probably damaging	0.99
IGL02608:Trhr	APN	15	44,061,074 (GRCm39)	missense	probably benign	0.08
IGL02825:Trhr	APN	15	44,092,921 (GRCm39)	missense	possibly damaging	0.62
pushover	UTSW	15	44,061,023 (GRCm39)	missense	probably damaging	1.00
P4717OSA:Trhr	UTSW	15	44,060,831 (GRCm39)	missense	probably damaging	0.97
R0007:Trhr	UTSW	15	44,092,547 (GRCm39)	splice site	probably benign
R0276:Trhr	UTSW	15	44,060,482 (GRCm39)	start codon destroyed	probably null	0.74
R0620:Trhr	UTSW	15	44,092,896 (GRCm39)	missense	probably benign	0.01
R1563:Trhr	UTSW	15	44,060,497 (GRCm39)	missense	probably benign	0.05
R1728:Trhr	UTSW	15	44,060,549 (GRCm39)	missense	probably damaging	1.00
R1729:Trhr	UTSW	15	44,060,549 (GRCm39)	missense	probably damaging	1.00
R2144:Trhr	UTSW	15	44,060,579 (GRCm39)	missense	probably benign	0.44
R3965:Trhr	UTSW	15	44,061,095 (GRCm39)	missense	possibly damaging	0.70
R4246:Trhr	UTSW	15	44,096,856 (GRCm39)	critical splice acceptor site	probably null
R4272:Trhr	UTSW	15	44,060,620 (GRCm39)	missense	probably damaging	0.97
R4378:Trhr	UTSW	15	44,061,023 (GRCm39)	missense	probably damaging	1.00
R4618:Trhr	UTSW	15	44,061,037 (GRCm39)	missense	probably benign	0.00
R5093:Trhr	UTSW	15	44,060,980 (GRCm39)	missense	probably damaging	0.96
R5388:Trhr	UTSW	15	44,060,873 (GRCm39)	missense	possibly damaging	0.91
R5496:Trhr	UTSW	15	44,060,932 (GRCm39)	missense	probably benign	0.00
R6341:Trhr	UTSW	15	44,092,694 (GRCm39)	nonsense	probably null
R6463:Trhr	UTSW	15	44,060,981 (GRCm39)	missense	probably benign	0.09
R6575:Trhr	UTSW	15	44,092,602 (GRCm39)	missense	possibly damaging	0.83
R7483:Trhr	UTSW	15	44,092,627 (GRCm39)	missense	probably damaging	1.00
R8780:Trhr	UTSW	15	44,061,149 (GRCm39)	missense	possibly damaging	0.84
R8807:Trhr	UTSW	15	44,061,212 (GRCm39)	missense	probably benign	0.00
R8897:Trhr	UTSW	15	44,060,736 (GRCm39)	missense	probably benign	0.00
R9525:Trhr	UTSW	15	44,060,873 (GRCm39)	missense	possibly damaging	0.91
R9614:Trhr	UTSW	15	44,060,981 (GRCm39)	missense	probably benign	0.09
Y5406:Trhr	UTSW	15	44,061,037 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTACATCTTGGGAAAGAGAGAC -3'
(R):5'- GGTCTGACTCCTTGATGACAC -3'

Sequencing Primer
(F):5'- TACATCTTGGGAAAGAGAGACTTGGC -3'
(R):5'- GACACTGTAATTTAGGGCCACACTG -3'

Posted On

2014-10-01