Mutagenetix > Incidental Mutation

Incidental Mutation 'R4030:Trhr2'

313177

Institutional Source

Beutler Lab

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 #

R4030 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123083706-123087485 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 123087438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000042575 (fasta)

Gene Model

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

AlphaFold

Q9ERT2

Predicted Effect

probably null
Transcript: ENSMUST00000044123
AA Change: M1V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042575
Gene: ENSMUSG00000039079
AA Change: M1V

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

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,668 (GRCm39)	S54P	probably benign	Het
2700062C07Rik	C	T	18: 24,608,715 (GRCm39)	P145L	probably benign	Het
Akap3	A	T	6: 126,841,984 (GRCm39)	D201V	probably damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Bpifb2	T	C	2: 153,733,237 (GRCm39)	S400P	probably benign	Het
Brd7	A	T	8: 89,059,559 (GRCm39)	I617N	probably damaging	Het
Cdhr2	C	A	13: 54,865,674 (GRCm39)	P224Q	probably damaging	Het
Cdon	A	G	9: 35,403,202 (GRCm39)	N1104S	probably damaging	Het
Ceacam3	T	C	7: 16,892,267 (GRCm39)	Y337H	probably benign	Het
Chrna5	T	C	9: 54,905,370 (GRCm39)	W61R	probably damaging	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cpsf1	G	A	15: 76,485,979 (GRCm39)	T397M	possibly damaging	Het
Crhr2	T	C	6: 55,094,662 (GRCm39)	D32G	probably benign	Het
Dip2b	A	G	15: 100,084,053 (GRCm39)	Y892C	probably damaging	Het
Dpyd	A	G	3: 118,690,815 (GRCm39)	D308G	probably benign	Het
Dsp	A	G	13: 38,375,404 (GRCm39)	N1063S	possibly damaging	Het
E030030I06Rik	C	A	10: 22,024,899 (GRCm39)	G5C	unknown	Het
Ehbp1	T	C	11: 22,235,498 (GRCm39)	T32A	probably damaging	Het
Fbxo9	C	A	9: 78,005,623 (GRCm39)		probably null	Het
Gpatch3	G	A	4: 133,305,458 (GRCm39)	R231H	possibly damaging	Het
Gpr68	A	G	12: 100,845,475 (GRCm39)	L23P	probably damaging	Het
H2-Q6	C	A	17: 35,644,792 (GRCm39)	Q194K	probably benign	Het
Hmgb1	A	G	5: 148,987,510 (GRCm39)	M13T	probably benign	Het
Kdm5a	T	A	6: 120,382,074 (GRCm39)	L706*	probably null	Het
Krt12	A	T	11: 99,312,854 (GRCm39)	F63L	unknown	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Lgr4	T	C	2: 109,820,096 (GRCm39)	S102P	probably benign	Het
Loxl4	A	T	19: 42,596,798 (GRCm39)	V71E	probably damaging	Het
Lrrc36	A	C	8: 106,153,439 (GRCm39)	N83T	probably damaging	Het
Med26	G	A	8: 73,250,413 (GRCm39)	R229C	probably damaging	Het
Mgam	G	A	6: 40,731,836 (GRCm39)	R1351Q	probably damaging	Het
Mroh8	T	A	2: 157,055,640 (GRCm39)	D986V	probably damaging	Het
Mrpl49	T	C	19: 6,105,230 (GRCm39)	D77G	probably benign	Het
Mrps30	T	C	13: 118,517,077 (GRCm39)	N381D	probably damaging	Het
Mrtfa	G	A	15: 80,899,985 (GRCm39)	T729I	probably benign	Het
Omd	T	A	13: 49,743,125 (GRCm39)	N58K	probably benign	Het
Oog4	A	T	4: 143,166,770 (GRCm39)	N11K	probably benign	Het
Or4a75	C	A	2: 89,448,207 (GRCm39)	V110F	probably damaging	Het
Plpp5	T	A	8: 26,210,631 (GRCm39)	L74Q	probably damaging	Het
Pramel28	T	A	4: 143,692,354 (GRCm39)	T216S	probably benign	Het
Prex2	T	A	1: 11,278,792 (GRCm39)	Y1374N	probably benign	Het
Rbak	A	T	5: 143,159,724 (GRCm39)	I443K	probably damaging	Het
Rhpn1	A	T	15: 75,582,406 (GRCm39)	S195C	probably damaging	Het
Rnf115	T	A	3: 96,693,299 (GRCm39)	I210N	probably damaging	Het
Rock2	G	A	12: 17,025,480 (GRCm39)	V1234I	probably damaging	Het
Scube2	A	G	7: 109,430,978 (GRCm39)	V407A	probably benign	Het
Serpina3n	G	T	12: 104,377,660 (GRCm39)		probably null	Het
Shisal2a	G	T	4: 108,240,412 (GRCm39)	C43*	probably null	Het
Slco2b1	A	G	7: 99,332,032 (GRCm39)	L283P	probably damaging	Het
Spag1	G	A	15: 36,234,447 (GRCm39)	V736M	probably damaging	Het
Srebf2	T	A	15: 82,062,984 (GRCm39)	C434S	probably damaging	Het
Ston2	T	C	12: 91,615,037 (GRCm39)	Q457R	possibly damaging	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn2r105	T	C	17: 20,429,016 (GRCm39)	R687G	probably damaging	Het
Vmn2r73	T	C	7: 85,521,044 (GRCm39)	Y308C	possibly damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zfyve9	A	G	4: 108,576,898 (GRCm39)	V61A	possibly damaging	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
IGL03408:Trhr2	APN	8	123,085,534 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGACCAGGTAGCAGTTGGTG -3'
(R):5'- ATGCCCTATAGACTGCCCTGATG -3'

Sequencing Primer
(F):5'- TGGGTGTGTGCATGTCAC -3'
(R):5'- GTCTGTAACTCCAATCCAGGGAATG -3'

Posted On

2015-04-30