Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Crhr1'

202496

Institutional Source

Beutler Lab

Gene Symbol

Crhr1

Ensembl Gene

ENSMUSG00000018634

Gene Name

corticotropin releasing hormone receptor 1

Synonyms

CRF 1 receptor, CRFR1, CRF1R, CRF-R1alpha

MMRRC Submission

039840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R1812 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

104023681-104066349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104059973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 140 (L140P)

Ref Sequence

ENSEMBL: ENSMUSP00000091455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093925]

AlphaFold

P35347

Predicted Effect

probably damaging
Transcript: ENSMUST00000093925
AA Change: L140P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091455
Gene: ENSMUSG00000018634
AA Change: L140P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
HormR	40	111	5.59e-26	SMART
Pfam:7tm_2	116	359	7.2e-81	PFAM

Coding Region Coverage

1x: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a G-protein coupled receptor that binds corticotropin-releasing factor (CRH) and urocortin (UCN) with high affinity. The encoded protein upregulates adenylate cyclase activity and intracellular cAMP levels. This protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response, and obesity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal zona fasciculata, low adrenocorticotropic hormone production, and reduced anxiety-related behaviors. Progeny of homozygote matings die from lung dysplasia within 48 hours of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,164,740 (GRCm39)	Q545*	probably null	Het
Aadacl2	T	C	3: 59,932,498 (GRCm39)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,978,578 (GRCm39)		probably null	Het
Adam17	T	C	12: 21,411,768 (GRCm39)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,582,540 (GRCm39)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,387,304 (GRCm39)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,370,014 (GRCm39)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,023,873 (GRCm39)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,462,902 (GRCm39)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,317,539 (GRCm39)	V53A	probably benign	Het
Chsy1	T	G	7: 65,821,565 (GRCm39)	V600G	probably benign	Het
Cntrl	G	A	2: 35,039,481 (GRCm39)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,805,253 (GRCm39)	C1218R	unknown	Het
Cyb5b	CAGAG	CAG	8: 107,897,020 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,039,621 (GRCm39)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,169,500 (GRCm39)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,683,767 (GRCm39)	I88T	probably benign	Het
Dennd11	A	G	6: 40,386,365 (GRCm39)	I288T	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Dip2b	C	A	15: 100,096,819 (GRCm39)		probably null	Het
Dscaml1	G	A	9: 45,662,584 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,629,334 (GRCm39)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,338,431 (GRCm39)	I158T	probably damaging	Het
Fat1	A	G	8: 45,489,840 (GRCm39)	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 30,737,355 (GRCm39)		probably null	Het
Gapvd1	T	A	2: 34,615,076 (GRCm39)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,242,001 (GRCm39)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,523,219 (GRCm39)	V203A	probably damaging	Het
Helb	T	A	10: 119,925,471 (GRCm39)	K969*	probably null	Het
Hipk2	G	A	6: 38,675,098 (GRCm39)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,540,317 (GRCm39)	E255D	probably benign	Het
Kif21a	T	C	15: 90,855,969 (GRCm39)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,077,879 (GRCm39)	I405N	probably benign	Het
Klk1b11	T	A	7: 43,427,179 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,269,642 (GRCm39)	L622M	probably benign	Het
Macf1	T	A	4: 123,325,817 (GRCm39)	I5227F	probably damaging	Het
Mapk10	A	C	5: 103,061,128 (GRCm39)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,635,831 (GRCm39)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,636,283 (GRCm39)		probably null	Het
Nosip	T	A	7: 44,725,998 (GRCm39)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm39)	Y260*	probably null	Het
Or52m2	A	T	7: 102,263,577 (GRCm39)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,537,285 (GRCm39)	Y25C	probably benign	Het
Or5w13	A	G	2: 87,523,447 (GRCm39)	F260L	probably benign	Het
Pik3c2a	A	T	7: 116,016,899 (GRCm39)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,252,311 (GRCm39)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,735,651 (GRCm39)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,711 (GRCm39)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm39)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,124,579 (GRCm39)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,411,258 (GRCm39)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,495,996 (GRCm39)	F6L	probably benign	Het
Ryr2	C	A	13: 11,575,472 (GRCm39)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,609,931 (GRCm39)	C972*	probably null	Het
Setd2	C	T	9: 110,379,170 (GRCm39)	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,247,789 (GRCm39)	L471P	probably damaging	Het
Slc6a21	C	G	7: 44,932,371 (GRCm39)	S350R	probably damaging	Het
Slx4ip	A	G	2: 136,910,115 (GRCm39)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,435 (GRCm39)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,624,102 (GRCm39)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm39)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,622,023 (GRCm39)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,777,212 (GRCm39)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,634,564 (GRCm39)	C215W	probably benign	Het
Tenm4	G	A	7: 96,545,147 (GRCm39)	D2388N	probably damaging	Het
Thsd4	C	T	9: 59,964,220 (GRCm39)	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,686,347 (GRCm39)	R630C	probably damaging	Het
Top3a	A	G	11: 60,650,188 (GRCm39)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,569,995 (GRCm39)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,215,046 (GRCm39)	E343G	probably benign	Het
Wdr70	T	C	15: 8,108,663 (GRCm39)	D161G	probably benign	Het

Other mutations in Crhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02156:Crhr1	APN	11	104,054,709 (GRCm39)	missense	probably benign
R0764:Crhr1	UTSW	11	104,050,152 (GRCm39)	missense	probably damaging	0.99
R1386:Crhr1	UTSW	11	104,065,220 (GRCm39)	missense	possibly damaging	0.86
R1822:Crhr1	UTSW	11	104,023,898 (GRCm39)	start codon destroyed	probably benign
R1903:Crhr1	UTSW	11	104,060,675 (GRCm39)	missense	probably damaging	1.00
R3427:Crhr1	UTSW	11	104,064,419 (GRCm39)	critical splice acceptor site	probably null
R3930:Crhr1	UTSW	11	104,044,377 (GRCm39)	missense	probably benign	0.00
R5285:Crhr1	UTSW	11	104,061,323 (GRCm39)	missense	possibly damaging	0.94
R5537:Crhr1	UTSW	11	104,054,682 (GRCm39)	missense	possibly damaging	0.94
R6243:Crhr1	UTSW	11	104,064,740 (GRCm39)	missense	probably damaging	1.00
R6273:Crhr1	UTSW	11	104,054,682 (GRCm39)	missense	possibly damaging	0.94
R7372:Crhr1	UTSW	11	104,054,719 (GRCm39)	splice site	probably null
R7664:Crhr1	UTSW	11	104,059,968 (GRCm39)	missense	probably benign	0.01
R8978:Crhr1	UTSW	11	104,064,480 (GRCm39)	missense	possibly damaging	0.96
R9071:Crhr1	UTSW	11	104,064,133 (GRCm39)	missense	probably damaging	1.00
X0021:Crhr1	UTSW	11	104,060,694 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAACCCTGTTACTGTTGCC -3'
(R):5'- GTCCTAAGAGACCTGAGCTTCAC -3'

Sequencing Primer
(F):5'- CTGGTGCTGTCCTCTCAGAG -3'
(R):5'- AGACCTGAGCTTCACATAGTG -3'

Posted On

2014-06-23