Mutagenetix > Incidental Mutation

Incidental Mutation 'R6865:Crh'

535851

Institutional Source

Beutler Lab

Gene Symbol

Crh

Ensembl Gene

ENSMUSG00000049796

Gene Name

corticotropin releasing hormone

Synonyms

LOC383938, corticotropin-releasing factor, corticotropin releasing factor, CRF

MMRRC Submission

045027-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R6865 (G1)

Quality Score

180.009

Status

Not validated

Chromosome

Chromosomal Location

19747565-19749560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 19748304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 113 (P113A)

Ref Sequence

ENSEMBL: ENSMUSP00000061185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029139] [ENSMUST00000061294]

AlphaFold

Q8CIT0

Predicted Effect

probably benign
Transcript: ENSMUST00000029139

SMART Domains

Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913

Domain	Start	End	E-Value	Type
RING	26	81	3.69e-8	SMART
BBOX	119	161	3.58e-6	SMART
Blast:BBC	168	294	2e-33	BLAST
PDB:4M3L\|D	215	272	2e-12	PDB
low complexity region	329	355	N/A	INTRINSIC
low complexity region	384	398	N/A	INTRINSIC
low complexity region	474	485	N/A	INTRINSIC
low complexity region	514	526	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061294
AA Change: P113A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796
AA Change: P113A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	38	56	N/A	INTRINSIC
CRF	146	185	1.55e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the corticotropin-releasing factor family and preproprotein that is proteolytically processed to generate a mature protein product. This protein product is a neuropeptide hormone that binds to the corticotropin releasing hormone receptors (CRHR1 and CRHR2) to stimulate the release of adrenocorticotropic hormone from the pituitary gland in response to stress. The encoded protein may also regulate angiogenesis and inflammation. Homozygous knockout mice for this gene exhibit reduced corticosterone levels while the offspring of these mice die perinatally. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have abnormal adrenal gland morphology, decreased corticosterone levels and abnormal corticosteroid responses to stress. Homozygous litters born from homozygous females display neonatal lethality, impaired lung maturation and delayedcornified and granular layer development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,320,212 (GRCm39)	M293L	possibly damaging	Het
Ankrd11	T	C	8: 123,621,683 (GRCm39)	D723G	probably benign	Het
Ankrd26	T	C	6: 118,500,442 (GRCm39)	R1010G	possibly damaging	Het
Apob	G	A	12: 8,058,847 (GRCm39)	R2410H	probably benign	Het
Auh	T	C	13: 52,992,165 (GRCm39)	D275G	probably damaging	Het
Card10	G	T	15: 78,686,822 (GRCm39)	D47E	possibly damaging	Het
Ccdc141	C	T	2: 76,859,579 (GRCm39)		probably null	Het
Cfap206	T	C	4: 34,714,448 (GRCm39)	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,075,354 (GRCm39)	Y500*	probably null	Het
Cop1	T	A	1: 159,136,524 (GRCm39)	D536E	probably damaging	Het
Ddx54	T	G	5: 120,759,892 (GRCm39)		probably null	Het
Efcab7	T	C	4: 99,769,793 (GRCm39)	S127P	probably damaging	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Fga	T	A	3: 82,938,848 (GRCm39)	C408S	probably damaging	Het
Flot2	T	C	11: 77,940,318 (GRCm39)	S22P	probably benign	Het
Fndc1	T	A	17: 7,991,672 (GRCm39)	T675S	unknown	Het
Foxc1	A	G	13: 31,992,836 (GRCm39)	D549G	unknown	Het
Gldc	T	C	19: 30,111,162 (GRCm39)	N538S	possibly damaging	Het
Grk4	T	G	5: 34,888,894 (GRCm39)	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,747,127 (GRCm39)	R111G	probably benign	Het
Heatr6	C	T	11: 83,659,966 (GRCm39)	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,670,013 (GRCm39)		probably null	Het
Msrb1	T	C	17: 24,955,685 (GRCm39)	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo3a	A	G	2: 22,464,313 (GRCm39)	I185V	probably benign	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Nek6	A	G	2: 38,459,678 (GRCm39)	I174V	probably benign	Het
Nmt2	T	C	2: 3,315,766 (GRCm39)	V252A	probably damaging	Het
Nudt9	G	T	5: 104,207,545 (GRCm39)	R179M	probably damaging	Het
Nwd1	T	C	8: 73,383,690 (GRCm39)	V29A	possibly damaging	Het
Olah	T	C	2: 3,343,964 (GRCm39)	D216G	possibly damaging	Het
Or13c7b	T	C	4: 43,821,346 (GRCm39)	N5S	probably benign	Het
Or52n2	T	C	7: 104,542,719 (GRCm39)	I39V	probably benign	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pkd1	T	C	17: 24,795,461 (GRCm39)	V2318A	probably benign	Het
Pknox1	T	A	17: 31,807,534 (GRCm39)	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,098,242 (GRCm39)	R321*	probably null	Het
Pxdn	A	G	12: 30,064,582 (GRCm39)		probably null	Het
Rab44	A	T	17: 29,358,201 (GRCm39)	I130F	probably benign	Het
Rnf130	T	C	11: 49,962,091 (GRCm39)	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,041,856 (GRCm39)	C450*	probably null	Het
Slco1c1	A	T	6: 141,485,778 (GRCm39)	Y136F	probably damaging	Het
Synj2	C	T	17: 6,067,844 (GRCm39)	Q106*	probably null	Het
Uckl1	T	C	2: 181,216,286 (GRCm39)	N138S	probably damaging	Het
Usp19	G	T	9: 108,376,018 (GRCm39)	E203*	probably null	Het
Vdr	A	G	15: 97,755,386 (GRCm39)	I379T	probably damaging	Het
Zfp503	C	A	14: 22,036,101 (GRCm39)	G272C	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het
Zzz3	T	A	3: 152,133,690 (GRCm39)	D249E	probably benign	Het

Other mutations in Crh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02698:Crh	APN	3	19,748,354 (GRCm39)	missense	possibly damaging	0.80
R0047:Crh	UTSW	3	19,748,201 (GRCm39)	missense	probably damaging	1.00
R0697:Crh	UTSW	3	19,748,241 (GRCm39)	missense	probably damaging	0.99
R0835:Crh	UTSW	3	19,748,528 (GRCm39)	missense	probably benign	0.02
R1201:Crh	UTSW	3	19,748,090 (GRCm39)	missense	probably damaging	0.99
R2034:Crh	UTSW	3	19,748,262 (GRCm39)	missense	probably damaging	1.00
R2233:Crh	UTSW	3	19,748,096 (GRCm39)	missense	probably damaging	1.00
R2234:Crh	UTSW	3	19,748,096 (GRCm39)	missense	probably damaging	1.00
R2235:Crh	UTSW	3	19,748,096 (GRCm39)	missense	probably damaging	1.00
R5045:Crh	UTSW	3	19,748,153 (GRCm39)	nonsense	probably null
R5191:Crh	UTSW	3	19,748,093 (GRCm39)	missense	probably damaging	1.00
R5283:Crh	UTSW	3	19,748,171 (GRCm39)	missense	probably damaging	1.00
R6481:Crh	UTSW	3	19,748,501 (GRCm39)	missense	probably benign	0.13
R6790:Crh	UTSW	3	19,748,459 (GRCm39)	missense	probably damaging	1.00
R7259:Crh	UTSW	3	19,748,418 (GRCm39)	missense	possibly damaging	0.64
R7758:Crh	UTSW	3	19,748,453 (GRCm39)	missense	probably damaging	1.00
R7981:Crh	UTSW	3	19,748,216 (GRCm39)	missense	probably benign	0.18
R8247:Crh	UTSW	3	19,748,291 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCGCAACATTTCATTTCCCG -3'
(R):5'- TCCGCATGGGTGAAGAATAC -3'

Sequencing Primer
(F):5'- GCGCAACATTTCATTTCCCGATAATC -3'
(R):5'- GAAGAATACTTCCTCCGCCTGG -3'

Posted On

2018-10-18