Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03408:Trhr2'

421672

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trhr2

Ensembl Gene

ENSMUSG00000039079

Gene Name

thyrotropin releasing hormone receptor 2

Synonyms

TRH-R2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

IGL03408

Quality Score

Status

Chromosome

Chromosomal Location

123083706-123087485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123085534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 150 (T150M)

Ref Sequence

ENSEMBL: ENSMUSP00000042575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044123] [ENSMUST00000127664]

AlphaFold

Q9ERT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000044123
AA Change: T150M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042575
Gene: ENSMUSG00000039079
AA Change: T150M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	184	1e-12	PFAM
Pfam:7TM_GPCR_Srv	29	325	2e-7	PFAM
Pfam:7TM_GPCR_Srx	30	165	4.8e-7	PFAM
Pfam:7TM_GPCR_Srsx	33	323	5.6e-10	PFAM
Pfam:7tm_1	39	308	5.4e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,303,954 (GRCm39)	F2108I	probably damaging	Het
Aco2	T	C	15: 81,783,424 (GRCm39)		probably null	Het
Ccdc186	T	C	19: 56,787,163 (GRCm39)	K602E	probably benign	Het
Ccdc85a	T	A	11: 28,526,528 (GRCm39)	H360L	probably damaging	Het
Cited2	A	G	10: 17,600,148 (GRCm39)	H152R	possibly damaging	Het
Cluh	C	A	11: 74,556,779 (GRCm39)	R940S	probably benign	Het
Corin	T	A	5: 72,500,304 (GRCm39)	Y432F	probably benign	Het
Creb1	A	G	1: 64,615,491 (GRCm39)		probably null	Het
Dhx15	A	T	5: 52,317,654 (GRCm39)	D568E	probably damaging	Het
Efcab3	T	A	11: 104,601,447 (GRCm39)	S253R	probably benign	Het
Esam	G	T	9: 37,445,949 (GRCm39)	R162S	possibly damaging	Het
Fat3	T	A	9: 15,909,253 (GRCm39)	K2250*	probably null	Het
Fbxl17	G	A	17: 63,387,541 (GRCm39)	R133*	probably null	Het
Gzmc	C	T	14: 56,471,473 (GRCm39)	G23R	probably damaging	Het
Idh3a	A	G	9: 54,504,206 (GRCm39)	N189D	probably benign	Het
Il31ra	A	T	13: 112,662,422 (GRCm39)	D462E	probably benign	Het
Inava	T	C	1: 136,142,143 (GRCm39)	Y652C	probably benign	Het
Inpp5j	G	A	11: 3,452,809 (GRCm39)	A147V	possibly damaging	Het
Kalrn	G	A	16: 34,134,546 (GRCm39)	A412V	probably damaging	Het
Lrp1b	A	G	2: 40,748,594 (GRCm39)	V2968A	probably damaging	Het
Morc1	G	A	16: 48,262,775 (GRCm39)	G42R	probably damaging	Het
Notch4	T	C	17: 34,784,542 (GRCm39)	L85P	probably benign	Het
Or4c52	G	A	2: 89,845,915 (GRCm39)	V214M	probably benign	Het
Or5p73	A	T	7: 108,064,554 (GRCm39)	N8Y	probably damaging	Het
Parp4	T	A	14: 56,839,865 (GRCm39)	H524Q	probably damaging	Het
Pole	T	C	5: 110,442,426 (GRCm39)	F285L	probably damaging	Het
Scn9a	A	G	2: 66,357,091 (GRCm39)	M1070T	probably benign	Het
Slc25a32	G	A	15: 38,963,425 (GRCm39)	A132V	probably benign	Het
Sult2a2	T	G	7: 13,472,154 (GRCm39)	I117S	probably damaging	Het
Suv39h2	T	C	2: 3,460,913 (GRCm39)	N183S	probably damaging	Het
Usp34	T	A	11: 23,396,957 (GRCm39)	F614I	possibly damaging	Het
Vmn2r17	A	G	5: 109,577,238 (GRCm39)		probably benign	Het
Wfdc2	T	A	2: 164,405,283 (GRCm39)	C61*	probably null	Het
Zfp384	T	C	6: 125,012,676 (GRCm39)	S377P	probably damaging	Het
Zfp945	A	T	17: 23,071,511 (GRCm39)	Y150*	probably null	Het

Other mutations in Trhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03070:Trhr2	APN	8	123,085,342 (GRCm39)	missense	probably benign
IGL03387:Trhr2	APN	8	123,085,220 (GRCm39)	intron	probably benign
R0546:Trhr2	UTSW	8	123,085,228 (GRCm39)	critical splice donor site	probably null
R1135:Trhr2	UTSW	8	123,085,372 (GRCm39)	missense	probably damaging	1.00
R1377:Trhr2	UTSW	8	123,087,327 (GRCm39)	missense	probably damaging	1.00
R1656:Trhr2	UTSW	8	123,084,185 (GRCm39)	missense	probably damaging	1.00
R2055:Trhr2	UTSW	8	123,085,532 (GRCm39)	missense	probably damaging	1.00
R4030:Trhr2	UTSW	8	123,087,438 (GRCm39)	start codon destroyed	probably null	0.01
R4998:Trhr2	UTSW	8	123,085,511 (GRCm39)	missense	probably benign	0.04
R5074:Trhr2	UTSW	8	123,084,110 (GRCm39)	missense	probably benign	0.01
R6175:Trhr2	UTSW	8	123,084,118 (GRCm39)	missense	probably damaging	0.99
R7048:Trhr2	UTSW	8	123,085,418 (GRCm39)	missense	probably damaging	1.00
R7168:Trhr2	UTSW	8	123,087,276 (GRCm39)	missense	probably damaging	1.00
R7185:Trhr2	UTSW	8	123,087,396 (GRCm39)	missense	probably benign	0.26
R7284:Trhr2	UTSW	8	123,087,114 (GRCm39)	missense	probably damaging	1.00
R7314:Trhr2	UTSW	8	123,085,489 (GRCm39)	missense	possibly damaging	0.64
R7644:Trhr2	UTSW	8	123,084,061 (GRCm39)	missense	possibly damaging	0.93
R7891:Trhr2	UTSW	8	123,084,083 (GRCm39)	missense	probably damaging	0.99
R8715:Trhr2	UTSW	8	123,085,619 (GRCm39)	missense	probably damaging	1.00
R8840:Trhr2	UTSW	8	123,085,621 (GRCm39)	missense	probably damaging	1.00
Z1176:Trhr2	UTSW	8	123,085,534 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02