Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Trhr'

236673

Institutional Source

Beutler Lab

Gene Symbol

Trhr

Ensembl Gene

ENSMUSG00000038760

Gene Name

thyrotropin releasing hormone receptor

Synonyms

TRH-R1

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44196135-44235912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44197183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 33 (V33A)

Ref Sequence

ENSEMBL: ENSMUSP00000154140 (fasta)

Gene Model

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

AlphaFold

P21761

Predicted Effect

probably benign
Transcript: ENSMUST00000038856
AA Change: V33A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: V33A

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: V33A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: V33A

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: V33A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000227505
AA Change: V33A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,868,174 (GRCm38)	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,868,175 (GRCm38)	T69S	unknown	Het
Acsl6	A	T	11: 54,341,778 (GRCm38)	Q485L	probably damaging	Het
Adam5	C	A	8: 24,815,480 (GRCm38)	V81F	probably benign	Het
Armc4	C	T	18: 7,127,229 (GRCm38)	E995K	probably damaging	Het
Atp5s	A	G	12: 69,741,054 (GRCm38)	Q88R	probably damaging	Het
Bag2	A	G	1: 33,746,831 (GRCm38)	S137P	possibly damaging	Het
Birc6	A	T	17: 74,660,413 (GRCm38)	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,671,575 (GRCm38)	F999L	probably benign	Het
Cap2	A	T	13: 46,560,502 (GRCm38)		probably null	Het
Ccnk	T	A	12: 108,189,090 (GRCm38)	L102Q	probably null	Het
Cd52	T	C	4: 134,093,737 (GRCm38)		probably benign	Het
Cdc123	A	T	2: 5,810,806 (GRCm38)	I160K	probably benign	Het
Cep85l	T	C	10: 53,358,126 (GRCm38)	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,101,710 (GRCm38)	T298I	probably benign	Het
Cpsf4	G	T	5: 145,178,762 (GRCm38)	S192I	probably benign	Het
Cpxm1	A	G	2: 130,397,410 (GRCm38)	S33P	probably benign	Het
Cyp2a12	A	T	7: 27,034,769 (GRCm38)	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,456,084 (GRCm38)	F137S	probably damaging	Het
Des	A	G	1: 75,366,804 (GRCm38)	T444A	probably benign	Het
Dgcr8	C	T	16: 18,284,256 (GRCm38)	G54D	probably damaging	Het
Doxl2	A	G	6: 48,975,291 (GRCm38)	H50R	probably benign	Het
Dsc3	A	G	18: 19,980,686 (GRCm38)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,463,375 (GRCm38)	M838K	probably damaging	Het
Dvl1	G	A	4: 155,847,816 (GRCm38)	V28I	possibly damaging	Het
Eml5	A	C	12: 98,810,605 (GRCm38)	F1417C	probably damaging	Het
Ep400	A	T	5: 110,703,518 (GRCm38)	M1366K	unknown	Het
Epg5	G	T	18: 77,954,197 (GRCm38)	C425F	possibly damaging	Het
Epha3	C	G	16: 63,773,317 (GRCm38)	R136P	possibly damaging	Het
Extl1	C	A	4: 134,371,044 (GRCm38)	E225D	probably benign	Het
Fam186b	A	G	15: 99,280,657 (GRCm38)	Y263H	probably benign	Het
Fbn2	A	G	18: 58,052,993 (GRCm38)	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,627,534 (GRCm38)	M1251K	probably benign	Het
Gart	A	T	16: 91,630,081 (GRCm38)	I555N	probably damaging	Het
Gm11596	A	T	11: 99,792,963 (GRCm38)	C110*	probably null	Het
Gnptab	C	T	10: 88,428,506 (GRCm38)	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,518,231 (GRCm38)	V263A	probably benign	Het
Gxylt1	T	C	15: 93,254,480 (GRCm38)	I224V	probably benign	Het
H2-Aa	A	G	17: 34,283,827 (GRCm38)	S122P	probably damaging	Het
Hsph1	A	C	5: 149,630,337 (GRCm38)		probably null	Het
Hunk	G	A	16: 90,432,532 (GRCm38)	D94N	probably damaging	Het
Ikbke	C	A	1: 131,273,474 (GRCm38)	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,647,191 (GRCm38)		probably null	Het
Ints10	A	G	8: 68,796,805 (GRCm38)	T96A	probably damaging	Het
Kansl2	A	T	15: 98,526,631 (GRCm38)	V306E	probably benign	Het
Kif20a	A	G	18: 34,625,604 (GRCm38)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,100,863 (GRCm38)	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,580,818 (GRCm38)	I50V	probably benign	Het
Ktn1	A	G	14: 47,714,652 (GRCm38)	E983G	probably damaging	Het
Lrrk1	G	A	7: 66,296,163 (GRCm38)	S566L	probably damaging	Het
M6pr	A	G	6: 122,315,367 (GRCm38)	M174V	probably benign	Het
Man2a2	A	G	7: 80,363,516 (GRCm38)	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,945,075 (GRCm38)	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,154,189 (GRCm38)		probably null	Het
Mrgpra9	T	C	7: 47,235,463 (GRCm38)	E152G	probably benign	Het
Mst1r	T	C	9: 107,913,168 (GRCm38)	V660A	probably benign	Het
Myof	A	G	19: 37,981,221 (GRCm38)		probably null	Het
Myrf	G	A	19: 10,228,674 (GRCm38)	P126L	probably benign	Het
Nckap1l	C	T	15: 103,475,676 (GRCm38)	A567V	probably damaging	Het
Nphs1	A	G	7: 30,460,970 (GRCm38)	E169G	probably benign	Het
Npy1r	T	A	8: 66,705,184 (GRCm38)	V382D	probably benign	Het
Nrl	A	T	14: 55,520,850 (GRCm38)	M140K	possibly damaging	Het
Olfr1305	A	G	2: 111,873,423 (GRCm38)	I144T	probably damaging	Het
Olfr199	C	T	16: 59,216,026 (GRCm38)	V196M	probably benign	Het
Olfr292	T	A	7: 86,695,280 (GRCm38)	F275I	probably damaging	Het
Olfr694	A	T	7: 106,688,957 (GRCm38)	M258K	probably damaging	Het
Olfr924	C	T	9: 38,848,339 (GRCm38)	T75I	probably damaging	Het
Orc5	T	A	5: 22,547,927 (GRCm38)	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 12,871,173 (GRCm38)	S396T	probably benign	Het
Pappa	T	A	4: 65,180,949 (GRCm38)	Y568*	probably null	Het
Pask	C	T	1: 93,321,297 (GRCm38)	A794T	probably benign	Het
Pclo	C	T	5: 14,858,752 (GRCm38)	L5025F	unknown	Het
Pde3a	T	C	6: 141,490,111 (GRCm38)	V924A	probably benign	Het
Pdpr	A	G	8: 111,118,036 (GRCm38)	N355S	probably damaging	Het
Pepd	A	T	7: 34,921,418 (GRCm38)	K36M	probably benign	Het
Pet100	T	G	8: 3,622,355 (GRCm38)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723 (GRCm38)	T438A	probably benign	Het
Pik3r6	T	A	11: 68,543,611 (GRCm38)	L546*	probably null	Het
Pira2	A	T	7: 3,844,345 (GRCm38)	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,934,012 (GRCm38)	Y339C	probably damaging	Het
Primpol	A	T	8: 46,586,343 (GRCm38)	M414K	probably damaging	Het
Prol1	A	T	5: 88,328,395 (GRCm38)	T215S	unknown	Het
Prss22	A	G	17: 23,994,682 (GRCm38)	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,388,604 (GRCm38)	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,425,976 (GRCm38)	T245M	probably damaging	Het
Rbm26	T	A	14: 105,115,202 (GRCm38)	R1009*	probably null	Het
Rbm42	A	G	7: 30,641,110 (GRCm38)	*450Q	probably null	Het
Rere	T	C	4: 150,616,931 (GRCm38)	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,407,983 (GRCm38)	L15F	probably damaging	Het
Rnf213	T	C	11: 119,443,690 (GRCm38)	S3242P	probably damaging	Het
Rtel1	T	A	2: 181,323,706 (GRCm38)	V167E	probably damaging	Het
Scgb1b2	G	T	7: 31,291,763 (GRCm38)		probably benign	Het
Sin3b	T	C	8: 72,731,265 (GRCm38)	L203P	probably damaging	Het
Skint6	T	C	4: 113,236,260 (GRCm38)	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,809,378 (GRCm38)	Y566C	probably damaging	Het
Smgc	T	G	15: 91,844,421 (GRCm38)	D121E	possibly damaging	Het
Sned1	T	A	1: 93,271,684 (GRCm38)	F495L	probably damaging	Het
St7	A	T	6: 17,886,007 (GRCm38)	N52I	possibly damaging	Het
Sycn	C	A	7: 28,541,069 (GRCm38)	Q54K	probably benign	Het
Syngr4	A	G	7: 45,887,040 (GRCm38)	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791 (GRCm38)	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,642,804 (GRCm38)	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,613,499 (GRCm38)	Y443H	probably damaging	Het
Tmem200c	A	T	17: 68,842,249 (GRCm38)	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,517,490 (GRCm38)	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,168,541 (GRCm38)	V23G	possibly damaging	Het
Trim66	A	T	7: 109,475,113 (GRCm38)	I647N	probably damaging	Het
Trnt1	A	G	6: 106,778,039 (GRCm38)	K244E	probably damaging	Het
Tsfm	G	A	10: 127,028,445 (GRCm38)	Q134*	probably null	Het
Ttll9	A	G	2: 153,003,007 (GRCm38)	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,954,482 (GRCm38)	L623F	probably damaging	Het
Wdr55	A	G	18: 36,762,366 (GRCm38)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,896,214 (GRCm38)	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,948,988 (GRCm38)		probably benign	Het
Zfp260	A	G	7: 30,105,340 (GRCm38)	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951 (GRCm38)	S525P	possibly damaging	Het
Zfp592	A	G	7: 81,038,202 (GRCm38)	T959A	probably benign	Het

Other mutations in Trhr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Trhr	APN	15	44,229,312 (GRCm38)	missense	probably damaging	1.00
IGL01800:Trhr	APN	15	44,229,207 (GRCm38)	missense	possibly damaging	0.69
IGL01945:Trhr	APN	15	44,197,144 (GRCm38)	missense	probably damaging	0.99
IGL02608:Trhr	APN	15	44,197,678 (GRCm38)	missense	probably benign	0.08
IGL02825:Trhr	APN	15	44,229,525 (GRCm38)	missense	possibly damaging	0.62
pushover	UTSW	15	44,197,627 (GRCm38)	missense	probably damaging	1.00
P4717OSA:Trhr	UTSW	15	44,197,435 (GRCm38)	missense	probably damaging	0.97
R0007:Trhr	UTSW	15	44,229,151 (GRCm38)	splice site	probably benign
R0276:Trhr	UTSW	15	44,197,086 (GRCm38)	start codon destroyed	probably null	0.74
R0620:Trhr	UTSW	15	44,229,500 (GRCm38)	missense	probably benign	0.01
R1563:Trhr	UTSW	15	44,197,101 (GRCm38)	missense	probably benign	0.05
R1728:Trhr	UTSW	15	44,197,153 (GRCm38)	missense	probably damaging	1.00
R1729:Trhr	UTSW	15	44,197,153 (GRCm38)	missense	probably damaging	1.00
R2167:Trhr	UTSW	15	44,229,242 (GRCm38)	missense	probably damaging	1.00
R3965:Trhr	UTSW	15	44,197,699 (GRCm38)	missense	possibly damaging	0.70
R4246:Trhr	UTSW	15	44,233,460 (GRCm38)	critical splice acceptor site	probably null
R4272:Trhr	UTSW	15	44,197,224 (GRCm38)	missense	probably damaging	0.97
R4378:Trhr	UTSW	15	44,197,627 (GRCm38)	missense	probably damaging	1.00
R4618:Trhr	UTSW	15	44,197,641 (GRCm38)	missense	probably benign	0.00
R5093:Trhr	UTSW	15	44,197,584 (GRCm38)	missense	probably damaging	0.96
R5388:Trhr	UTSW	15	44,197,477 (GRCm38)	missense	possibly damaging	0.91
R5496:Trhr	UTSW	15	44,197,536 (GRCm38)	missense	probably benign	0.00
R6341:Trhr	UTSW	15	44,229,298 (GRCm38)	nonsense	probably null
R6463:Trhr	UTSW	15	44,197,585 (GRCm38)	missense	probably benign	0.09
R6575:Trhr	UTSW	15	44,229,206 (GRCm38)	missense	possibly damaging	0.83
R7483:Trhr	UTSW	15	44,229,231 (GRCm38)	missense	probably damaging	1.00
R8780:Trhr	UTSW	15	44,197,753 (GRCm38)	missense	possibly damaging	0.84
R8807:Trhr	UTSW	15	44,197,816 (GRCm38)	missense	probably benign	0.00
R8897:Trhr	UTSW	15	44,197,340 (GRCm38)	missense	probably benign	0.00
R9525:Trhr	UTSW	15	44,197,477 (GRCm38)	missense	possibly damaging	0.91
R9614:Trhr	UTSW	15	44,197,585 (GRCm38)	missense	probably benign	0.09
Y5406:Trhr	UTSW	15	44,197,641 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTTTCACAGGGGAAAGAAC -3'
(R):5'- GAGGCAGCCAACATAGCCATAG -3'

Sequencing Primer
(F):5'- CTTTTCACAGGGGAAAGAACTACTGC -3'
(R):5'- GACCCAGGAACCATAGATACTGTCG -3'

Posted On

2014-10-01