Mutagenetix > Incidental Mutation

Incidental Mutation 'R7048:Trhr2'

547443

Institutional Source

Beutler Lab

Gene Symbol

Trhr2

Ensembl Gene

ENSMUSG00000039079

Gene Name

thyrotropin releasing hormone receptor 2

Synonyms

TRH-R2

MMRRC Submission

045146-MU

Accession Numbers

Essential gene?

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

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123083706-123087485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123085418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 189 (D189N)

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: D189N

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

SMART Domains

Protein: ENSMUSP00000042575
Gene: ENSMUSG00000039079
AA Change: D189N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,552,565 (GRCm39)	D629G	probably damaging	Het
Akap11	T	A	14: 78,749,954 (GRCm39)	Q811L		Het
Ank2	T	A	3: 126,819,267 (GRCm39)	Q468L	probably benign	Het
Ano3	A	T	2: 110,513,116 (GRCm39)	Y626*	probably null	Het
Ap1m1	A	G	8: 73,003,642 (GRCm39)	N114S	probably damaging	Het
Asb3	T	A	11: 31,051,121 (GRCm39)	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,552,672 (GRCm39)	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,233,308 (GRCm39)	Y68H	probably benign	Het
Bbs5	T	C	2: 69,484,705 (GRCm39)	I125T	probably benign	Het
Cd180	A	G	13: 102,841,431 (GRCm39)	N159S	probably damaging	Het
Cd37	T	C	7: 44,887,888 (GRCm39)		probably benign	Het
Cdk14	T	A	5: 5,143,005 (GRCm39)	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,284,477 (GRCm39)	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,469 (GRCm39)	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,151,971 (GRCm39)	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491 (GRCm39)	S124R	probably benign	Het
Dlec1	A	T	9: 118,972,472 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,936,944 (GRCm39)	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,080,613 (GRCm39)		probably null	Het
Dusp23	A	T	1: 172,459,253 (GRCm39)	Y136*	probably null	Het
Eif4b	A	G	15: 102,001,571 (GRCm39)		probably benign	Het
F13a1	A	G	13: 37,082,117 (GRCm39)	V529A	probably benign	Het
Fhl2	A	G	1: 43,162,808 (GRCm39)	Y236H	probably damaging	Het
Gm826	C	T	2: 160,169,026 (GRCm39)	W94*	probably null	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,475,404 (GRCm39)		probably null	Het
Ifit1bl2	T	C	19: 34,596,551 (GRCm39)	D355G	probably benign	Het
Itga8	A	G	2: 12,115,895 (GRCm39)	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,826,450 (GRCm39)	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,145,982 (GRCm39)	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,268,731 (GRCm39)	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,221,152 (GRCm39)	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969 (GRCm39)	N5301D	probably benign	Het
Mest	T	G	6: 30,742,723 (GRCm39)	H108Q	probably damaging	Het
Mettl25b	A	G	3: 87,837,167 (GRCm39)	I36T	probably damaging	Het
Moxd1	C	A	10: 24,157,374 (GRCm39)	D335E	probably damaging	Het
Ncf2	A	C	1: 152,683,921 (GRCm39)	N47H	probably benign	Het
Npc1	A	G	18: 12,337,822 (GRCm39)		probably null	Het
Or14j2	A	T	17: 37,886,114 (GRCm39)	S67T	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Phactr2	T	A	10: 13,121,168 (GRCm39)	T444S	probably benign	Het
Plekha7	T	C	7: 115,747,559 (GRCm39)	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Pramel15	T	C	4: 144,103,754 (GRCm39)	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,622 (GRCm39)	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,865,277 (GRCm39)	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,028,190 (GRCm39)	D538G	probably benign	Het
Rims1	A	G	1: 22,511,901 (GRCm39)	S551P	probably damaging	Het
Rsrc1	A	G	3: 67,088,164 (GRCm39)	D166G	probably damaging	Het
Selenon	T	C	4: 134,270,154 (GRCm39)	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,295,802 (GRCm39)	L168H	probably damaging	Het
Smc3	T	C	19: 53,617,682 (GRCm39)	Y560H	probably benign	Het
Syce1	C	T	7: 140,359,281 (GRCm39)	D147N	possibly damaging	Het
Syt10	A	C	15: 89,675,008 (GRCm39)	V446G	probably damaging	Het
Taar1	T	C	10: 23,796,722 (GRCm39)	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032 (GRCm39)	C36F	probably damaging	Het
Thoc5	G	A	11: 4,876,237 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,612,800 (GRCm39)	N319K	probably benign	Het
Trim42	A	T	9: 97,245,474 (GRCm39)	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033 (GRCm39)	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,016,024 (GRCm39)	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,030,153 (GRCm39)	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,578,800 (GRCm39)	T258I	possibly damaging	Het
Washc2	T	C	6: 116,197,544 (GRCm39)	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,508,671 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,757,525 (GRCm39)	Y1193*	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
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
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'- GGACATTGAGCTCTTGGACC -3'
(R):5'- GCCAACATGCCTTGCTTGTATC -3'

Sequencing Primer
(F):5'- ACATTGAGCTCTTGGACCTAGAG -3'
(R):5'- ACAGGTACATCGCCATTTGC -3'

Posted On

2019-05-13