Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Trhr2'

567828

Institutional Source

Beutler Lab

Gene Symbol

Trhr2

Ensembl Gene

ENSMUSG00000039079

Gene Name

thyrotropin releasing hormone receptor 2

Synonyms

TRH-R2

MMRRC Submission

045412-MU

Accession Numbers

Essential gene?

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

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123083706-123087485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123085489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 165 (V165A)

Ref Sequence

ENSEMBL: ENSMUSP00000042575 (fasta)

Gene Model

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

AlphaFold

Q9ERT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044123
AA Change: V165A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042575
Gene: ENSMUSG00000039079
AA Change: V165A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,659,928 (GRCm39)	E273G	probably damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,645,541 (GRCm39)	S409T	probably benign	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,769,552 (GRCm39)	F84S	probably damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769 (GRCm39)	E231*	probably null	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Oas1g	A	T	5: 121,016,526 (GRCm39)	L301Q	probably damaging	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Setd4	T	C	16: 93,384,711 (GRCm39)	T326A	probably benign	Het
Smad9	A	G	3: 54,696,744 (GRCm39)	N270D	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	probably 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
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
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'- TTGGACCTAGAGCAGTTGC -3'
(R):5'- TAGGAGCCAACATGCCTTGC -3'

Sequencing Primer
(F):5'- AGTTGCCTGGTGTACCCTCG -3'
(R):5'- AACATGCCTTGCTTGTATCTTACAGG -3'

Posted On

2019-06-26