Mutagenetix > Incidental Mutation

Incidental Mutation 'R5283:Crh'

402859

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

042868-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R5283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19747565-19749560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19748171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 157 (H157R)

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

probably damaging
Transcript: ENSMUST00000061294
AA Change: H157R

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

SMART Domains

Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796
AA Change: H157R

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: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	T	1: 74,323,165 (GRCm39)	E53K	possibly damaging	Het
Amotl1	T	C	9: 14,469,780 (GRCm39)	E651G	probably damaging	Het
Ankrd11	A	C	8: 123,610,921 (GRCm39)	V2655G	probably damaging	Het
Apbb1ip	G	A	2: 22,757,683 (GRCm39)	V434M	probably benign	Het
Atp5pd	T	C	11: 115,306,611 (GRCm39)	Y150C	probably damaging	Het
Ccdc13	T	A	9: 121,637,254 (GRCm39)	D75V	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Cstdc6	T	C	16: 36,142,205 (GRCm39)	D57G	probably damaging	Het
Dpp4	G	A	2: 62,190,680 (GRCm39)	T392I	probably damaging	Het
Ehd3	G	T	17: 74,127,498 (GRCm39)	A144S	probably benign	Het
Fnip2	A	T	3: 79,373,015 (GRCm39)	I1021N	probably damaging	Het
Fus	T	A	7: 127,584,719 (GRCm39)		probably benign	Het
Glo1	T	C	17: 30,819,047 (GRCm39)	T92A	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm15130	A	C	2: 110,965,754 (GRCm39)	M165R	unknown	Het
Gon4l	T	C	3: 88,794,897 (GRCm39)	L700P	probably damaging	Het
Grm1	C	A	10: 10,608,936 (GRCm39)	D566Y	possibly damaging	Het
Guca1b	T	C	17: 47,702,195 (GRCm39)		probably benign	Het
Has3	A	G	8: 107,600,747 (GRCm39)	M70V	probably damaging	Het
Hydin	G	T	8: 111,178,612 (GRCm39)	C1069F	possibly damaging	Het
Ints1	A	C	5: 139,750,137 (GRCm39)	L920R	probably damaging	Het
Kdm2a	T	C	19: 4,381,297 (GRCm39)	I54V	probably benign	Het
Kpna2	G	A	11: 106,881,658 (GRCm39)	T324I	probably damaging	Het
Lrr1	T	C	12: 69,221,428 (GRCm39)	L190S	probably damaging	Het
Lrrc49	A	T	9: 60,594,461 (GRCm39)	H16Q	probably benign	Het
Mab21l4	C	T	1: 93,087,575 (GRCm39)	D93N	probably benign	Het
Mapkap1	A	G	2: 34,334,360 (GRCm39)	E147G	probably damaging	Het
Mrpl2	C	T	17: 46,959,992 (GRCm39)	R219W	possibly damaging	Het
Muc21	A	G	17: 35,932,224 (GRCm39)		probably benign	Het
Ndc80	A	G	17: 71,828,130 (GRCm39)	S66P	probably benign	Het
Notch1	A	G	2: 26,358,638 (GRCm39)	Y1398H	probably damaging	Het
Olfml2b	C	T	1: 170,508,758 (GRCm39)	R539*	probably null	Het
Or6b9	T	A	7: 106,555,955 (GRCm39)	T63S	probably benign	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Plekhg1	G	A	10: 3,906,654 (GRCm39)	V524I	probably benign	Het
Plin4	T	A	17: 56,413,777 (GRCm39)	M283L	probably benign	Het
Prp2	C	T	6: 132,577,606 (GRCm39)	P298S	unknown	Het
Rap1gap2	G	A	11: 74,286,651 (GRCm39)	R550C	probably damaging	Het
Reln	G	A	5: 22,216,161 (GRCm39)	T1008I	probably damaging	Het
Rffl	T	C	11: 82,703,615 (GRCm39)	K103E	probably damaging	Het
Rmnd5b	A	T	11: 51,517,887 (GRCm39)	F156I	probably damaging	Het
Rtn4ip1	T	C	10: 43,778,461 (GRCm39)	I68T	probably damaging	Het
Samhd1	T	C	2: 156,951,412 (GRCm39)	I442V	possibly damaging	Het
Slc12a4	A	T	8: 106,677,326 (GRCm39)		probably null	Het
Slc35b1	G	T	11: 95,275,814 (GRCm39)		probably benign	Het
Ssh1	A	G	5: 114,088,606 (GRCm39)	V354A	probably damaging	Het
Stk33	T	C	7: 108,935,334 (GRCm39)	K153E	possibly damaging	Het
Stk4	C	T	2: 163,952,199 (GRCm39)	R19*	probably null	Het
Tas2r136	A	T	6: 132,754,374 (GRCm39)	I251N	probably damaging	Het
Tbr1	A	T	2: 61,635,244 (GRCm39)	T65S	probably benign	Het
Tkt	C	T	14: 30,282,575 (GRCm39)	S124F	probably damaging	Het
Tll1	T	C	8: 64,555,000 (GRCm39)	I228V	possibly damaging	Het
Tmem236	A	G	2: 14,179,644 (GRCm39)	I82V	probably benign	Het
Vmn2r110	T	C	17: 20,800,899 (GRCm39)	Q511R	probably benign	Het
Vmn2r98	T	C	17: 19,300,981 (GRCm39)	M661T	probably benign	Het
Vps13a	T	A	19: 16,655,334 (GRCm39)	K1898I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	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
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
R6865:Crh	UTSW	3	19,748,304 (GRCm39)	missense	possibly damaging	0.56
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'- ATCGGAGCTGCGATATGGTAC -3'
(R):5'- ATCTCAACAGAAGTCCCGCTG -3'

Sequencing Primer
(F):5'- CAGAATCGTTTTGGCCAAG -3'
(R):5'- CAGGCTGCGGCTAACTTTTTC -3'

Posted On

2016-07-22