Mutagenetix > Incidental Mutation

Incidental Mutation 'R8840:Trhr2'

674373

Institutional Source

Beutler Lab

Gene Symbol

Trhr2

Ensembl Gene

ENSMUSG00000039079

Gene Name

thyrotropin releasing hormone receptor 2

Synonyms

TRH-R2

MMRRC Submission

068668-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R8840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123083706-123087485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123085621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 121 (Y121C)

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: Y121C

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

SMART Domains

Protein: ENSMUSP00000042575
Gene: ENSMUSG00000039079
AA Change: Y121C

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

0.9541

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc4	G	A	5: 53,016,473 (GRCm39)	D484N	probably damaging	Het
Antxr2	T	A	5: 98,152,769 (GRCm39)	L109F	probably damaging	Het
Arhgap9	A	G	10: 127,161,009 (GRCm39)	T179A	possibly damaging	Het
Atp6v1b1	A	T	6: 83,733,845 (GRCm39)	I359F		Het
Btnl1	A	G	17: 34,604,577 (GRCm39)	T453A	probably benign	Het
Bub1	T	C	2: 127,649,927 (GRCm39)	I644V	probably benign	Het
Ccdc163	T	A	4: 116,567,483 (GRCm39)		probably null	Het
Ccdc8	T	A	7: 16,728,642 (GRCm39)	F44I	probably damaging	Het
Ccz1	T	C	5: 143,940,982 (GRCm39)	I191V	probably damaging	Het
Cldn1	T	C	16: 26,190,286 (GRCm39)	K31E	possibly damaging	Het
Ctr9	A	G	7: 110,642,237 (GRCm39)	D321G	probably damaging	Het
Dmxl2	T	C	9: 54,309,139 (GRCm39)	N1871D	possibly damaging	Het
Dop1b	A	G	16: 93,607,005 (GRCm39)	I2103V	probably benign	Het
Dscaml1	A	G	9: 45,634,718 (GRCm39)	E1211G	probably damaging	Het
Eppk1	T	A	15: 75,994,094 (GRCm39)	D929V	probably benign	Het
Fam151a	T	C	4: 106,602,819 (GRCm39)	V246A	probably benign	Het
Fsip2	A	G	2: 82,821,606 (GRCm39)	I5780V	probably benign	Het
Gart	A	T	16: 91,433,010 (GRCm39)	M313K	probably benign	Het
Gnl1	T	G	17: 36,293,486 (GRCm39)	L224V	probably damaging	Het
Hectd3	T	C	4: 116,855,604 (GRCm39)	V368A	probably benign	Het
Ibsp	C	T	5: 104,458,006 (GRCm39)	A181V	probably benign	Het
Kdm1a	T	C	4: 136,287,716 (GRCm39)	E421G	probably damaging	Het
Kmt2a	A	T	9: 44,721,016 (GRCm39)	Y3831N	unknown	Het
Meltf	T	C	16: 31,716,020 (GRCm39)	L733P	probably damaging	Het
Nod2	T	C	8: 89,399,379 (GRCm39)	F898L	probably benign	Het
Npr3	A	T	15: 11,905,329 (GRCm39)	Y133N	probably damaging	Het
Or8g29-ps1	G	A	9: 39,201,018 (GRCm39)	T56I	unknown	Het
Pkd1l3	T	C	8: 110,349,842 (GRCm39)	V229A	unknown	Het
Pramel25	C	A	4: 143,521,638 (GRCm39)	T418K	probably damaging	Het
Primpol	A	T	8: 47,046,731 (GRCm39)	F188L	probably damaging	Het
Rbm15	A	G	3: 107,240,305 (GRCm39)	V31A	probably benign	Het
Robo2	T	A	16: 73,782,570 (GRCm39)	D322V	probably damaging	Het
Rpl3l	A	G	17: 24,952,711 (GRCm39)	N114S	probably damaging	Het
Sacs	A	G	14: 61,429,177 (GRCm39)	D412G	probably benign	Het
Sbno2	A	G	10: 79,893,360 (GRCm39)	S1314P	probably damaging	Het
Sez6	A	G	11: 77,867,313 (GRCm39)	D770G	probably damaging	Het
Skint7	T	C	4: 111,845,183 (GRCm39)	F332L	probably benign	Het
Spaca6	A	T	17: 18,051,365 (GRCm39)	I34F	possibly damaging	Het
Suclg2	T	A	6: 95,546,615 (GRCm39)	E287V	probably damaging	Het
Ttn	T	G	2: 76,606,371 (GRCm39)	D18146A	probably damaging	Het
Wdr3	G	A	3: 100,057,253 (GRCm39)	T450I	probably damaging	Het
Xab2	A	G	8: 3,663,254 (GRCm39)	F470L	probably benign	Het
Ythdc2	A	G	18: 44,993,691 (GRCm39)	H912R	probably damaging	Het
Zfp64	A	T	2: 168,768,635 (GRCm39)	S326T	probably benign	Het
Zswim4	C	T	8: 84,940,699 (GRCm39)	R800Q	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
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
Z1176:Trhr2	UTSW	8	123,085,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCTTGTAGCCACATTCCAG -3'
(R):5'- TTGGTAGGCATGGGGATCAC -3'

Sequencing Primer
(F):5'- AGGCGCTGGTTGTCACG -3'
(R):5'- TCACAGGACGGGACATTTTC -3'

Posted On

2021-07-15