Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Crhr2'

24461

Institutional Source

Beutler Lab

Gene Symbol

Crhr2

Ensembl Gene

ENSMUSG00000003476

Gene Name

corticotropin releasing hormone receptor 2

Synonyms

CRF 2 receptor, Crfr2, CRFR2beta, CRFR2alpha, CRF-R2, CRH-R2

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R0278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55067034-55110001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55094516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 58 (T58A)

Ref Sequence

ENSEMBL: ENSMUSP00000126673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003568] [ENSMUST00000095898] [ENSMUST00000114374] [ENSMUST00000164012] [ENSMUST00000212633] [ENSMUST00000213026]

AlphaFold

Q60748

Predicted Effect

probably benign
Transcript: ENSMUST00000003568
AA Change: T58A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: T58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
HormR	56	127	3.55e-28	SMART
Pfam:7tm_2	132	374	8.4e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095898
AA Change: T38A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093586
Gene: ENSMUSG00000003476
AA Change: T38A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
HormR	36	107	1.75e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114374
AA Change: T38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: T38A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
HormR	36	107	3.55e-28	SMART
Pfam:7tm_2	112	354	9.7e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164012
AA Change: T58A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: T58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
HormR	56	127	3.55e-28	SMART
Pfam:7tm_2	132	374	1e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169777

Predicted Effect

probably benign
Transcript: ENSMUST00000212633
AA Change: T58A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213026
AA Change: T38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous inactivation of this gene may result in hypersensitivity to stress, increased anxiety-like behavior, abnormal homeostatic responses to challenges of increased dietary fat and cold, and cardiovascular abnormalities, including hypertension and decreased cardiac contractility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,215 (GRCm39)	S3429R	probably damaging	Het
Abca3	A	G	17: 24,600,894 (GRCm39)	D436G	probably benign	Het
Acacb	C	A	5: 114,371,320 (GRCm39)	Y1816*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,754,872 (GRCm39)	I657V	probably benign	Het
Akap1	A	G	11: 88,736,020 (GRCm39)	V214A	probably benign	Het
Ankrd42	T	C	7: 92,280,865 (GRCm39)	R22G	possibly damaging	Het
Apc2	C	T	10: 80,148,647 (GRCm39)	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,273,652 (GRCm39)	I441T	probably damaging	Het
Cenpu	G	A	8: 47,031,344 (GRCm39)	A242T	probably damaging	Het
Col6a6	A	T	9: 105,644,487 (GRCm39)	V1267E	possibly damaging	Het
Ddx6	T	G	9: 44,542,722 (GRCm39)	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,543,305 (GRCm39)	N2288K	probably benign	Het
Egfl8	A	T	17: 34,833,342 (GRCm39)		probably null	Het
Elmo2	A	T	2: 165,139,287 (GRCm39)	I420N	probably damaging	Het
Elovl4	A	G	9: 83,665,248 (GRCm39)	F113L	probably benign	Het
Fancd2	T	A	6: 113,525,409 (GRCm39)		probably null	Het
Fbxl13	A	G	5: 21,728,908 (GRCm39)	V456A	probably benign	Het
Fgfr2	A	T	7: 129,863,592 (GRCm39)		probably null	Het
Fkbpl	A	T	17: 34,864,384 (GRCm39)	R51*	probably null	Het
Fn3krp	G	A	11: 121,312,406 (GRCm39)	V40M	probably damaging	Het
Fnip1	A	G	11: 54,380,169 (GRCm39)		probably null	Het
Gm15446	A	T	5: 110,091,281 (GRCm39)	Q511L	probably benign	Het
Gm7334	A	G	17: 51,006,289 (GRCm39)	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,784,204 (GRCm39)	T282S	possibly damaging	Het
Hspa9	A	G	18: 35,073,963 (GRCm39)	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,053,155 (GRCm39)	S128T	probably benign	Het
Il7r	A	T	15: 9,516,423 (GRCm39)	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,516,074 (GRCm39)	E11G	probably benign	Het
Klkb1	A	C	8: 45,725,446 (GRCm39)	F498V	probably benign	Het
Lama1	A	G	17: 68,117,178 (GRCm39)	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,310,943 (GRCm39)	V71A	probably benign	Het
Lin9	T	C	1: 180,493,488 (GRCm39)	I198T	probably damaging	Het
Lrrc7	T	A	3: 157,885,432 (GRCm39)	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,326,424 (GRCm39)	T519A	probably benign	Het
Or10w1	C	A	19: 13,632,128 (GRCm39)	L112I	probably damaging	Het
Or10w1	T	A	19: 13,632,129 (GRCm39)	L112H	probably damaging	Het
Or1d2	T	C	11: 74,256,028 (GRCm39)	F178L	probably damaging	Het
Or4a74	G	T	2: 89,440,108 (GRCm39)	L113M	probably damaging	Het
Or4a74	A	T	2: 89,440,107 (GRCm39)	L113Q	probably damaging	Het
Or5al7	A	T	2: 85,992,923 (GRCm39)	Y123*	probably null	Het
Or7h8	G	T	9: 20,124,182 (GRCm39)	C179F	probably damaging	Het
Parp4	A	G	14: 56,844,980 (GRCm39)	R624G	probably damaging	Het
Pex16	C	T	2: 92,211,401 (GRCm39)	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,493,902 (GRCm39)	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Prss43	T	A	9: 110,656,430 (GRCm39)	M39K	probably benign	Het
Psd4	T	C	2: 24,284,450 (GRCm39)	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,816 (GRCm39)	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl10l	A	G	12: 66,331,130 (GRCm39)	M1T	probably null	Het
Sec16a	A	G	2: 26,318,328 (GRCm39)	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,827,052 (GRCm39)	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,236,263 (GRCm39)	S497T	probably benign	Het
Spata13	A	G	14: 60,929,537 (GRCm39)	Y365C	probably benign	Het
Trim5	T	C	7: 103,928,882 (GRCm39)	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,659,194 (GRCm39)	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,821,987 (GRCm39)	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,449,644 (GRCm39)	V198D	probably damaging	Het
Wapl	A	G	14: 34,414,569 (GRCm39)	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,119,778 (GRCm39)	H194N	probably benign	Het
Zfp212	C	T	6: 47,903,453 (GRCm39)	R13W	probably damaging	Het

Other mutations in Crhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Crhr2	APN	6	55,080,165 (GRCm39)	missense	probably damaging	1.00
R1056:Crhr2	UTSW	6	55,077,720 (GRCm39)	missense	probably damaging	1.00
R1701:Crhr2	UTSW	6	55,076,255 (GRCm39)	missense	probably damaging	1.00
R1702:Crhr2	UTSW	6	55,069,520 (GRCm39)	missense	probably damaging	1.00
R2697:Crhr2	UTSW	6	55,079,815 (GRCm39)	missense	probably damaging	1.00
R4020:Crhr2	UTSW	6	55,077,765 (GRCm39)	splice site	probably benign
R4030:Crhr2	UTSW	6	55,094,662 (GRCm39)	missense	probably benign	0.34
R4527:Crhr2	UTSW	6	55,109,838 (GRCm39)	utr 5 prime	probably benign
R4698:Crhr2	UTSW	6	55,079,852 (GRCm39)	missense	possibly damaging	0.90
R4737:Crhr2	UTSW	6	55,068,290 (GRCm39)	missense	probably damaging	1.00
R5437:Crhr2	UTSW	6	55,077,718 (GRCm39)	missense	probably damaging	1.00
R5718:Crhr2	UTSW	6	55,069,085 (GRCm39)	nonsense	probably null
R5719:Crhr2	UTSW	6	55,080,207 (GRCm39)	missense	probably damaging	1.00
R5945:Crhr2	UTSW	6	55,077,667 (GRCm39)	missense	possibly damaging	0.93
R6046:Crhr2	UTSW	6	55,068,277 (GRCm39)	missense	probably damaging	1.00
R6358:Crhr2	UTSW	6	55,070,028 (GRCm39)	missense	probably benign	0.20
R6826:Crhr2	UTSW	6	55,094,725 (GRCm39)	intron	probably benign
R7011:Crhr2	UTSW	6	55,076,195 (GRCm39)	critical splice donor site	probably null
R7131:Crhr2	UTSW	6	55,069,112 (GRCm39)	missense
R7820:Crhr2	UTSW	6	55,079,764 (GRCm39)	missense	probably damaging	0.97
R8340:Crhr2	UTSW	6	55,079,831 (GRCm39)	missense	probably damaging	0.98
R8378:Crhr2	UTSW	6	55,069,941 (GRCm39)	missense	probably damaging	1.00
R8693:Crhr2	UTSW	6	55,079,779 (GRCm39)	missense	possibly damaging	0.87
R9434:Crhr2	UTSW	6	55,069,512 (GRCm39)	missense	probably damaging	1.00
Z1088:Crhr2	UTSW	6	55,080,201 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GGTGTCCGATTTAGGGTCCAGAAC -3'
(R):5'- ACTGAGGCCATTCTAGGGACTTGTC -3'

Sequencing Primer
(F):5'- GATTTAGGGTCCAGAACCCTCC -3'
(R):5'- ATCGATCAATTGCGGAGCC -3'

Posted On

2013-04-16