Mutagenetix > Incidental Mutation

Incidental Mutation 'R2235:Crh'

240376

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

040236-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R2235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19747565-19749560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19748096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 182 (M182K)

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: M182K

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

SMART Domains

Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796
AA Change: M182K

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,619,023 (GRCm39)	V256A	probably benign	Het
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adcy2	A	T	13: 68,816,611 (GRCm39)	Y792N	probably damaging	Het
Alpk1	T	C	3: 127,474,569 (GRCm39)	K478R	probably benign	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Bach1	A	G	16: 87,517,001 (GRCm39)	D514G	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cldn34b3	A	T	X: 75,310,830 (GRCm39)	I133F	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Cts6	T	A	13: 61,343,247 (GRCm39)	I325F	probably damaging	Het
Dnah6	T	C	6: 73,077,068 (GRCm39)	D2347G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Fhip1a	A	T	3: 85,568,408 (GRCm39)	L1037Q	probably damaging	Het
Fndc11	A	G	2: 180,864,067 (GRCm39)	S291G	possibly damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Ly6h	A	G	15: 75,437,038 (GRCm39)	S113P	probably benign	Het
Mto1	A	C	9: 78,364,846 (GRCm39)	T362P	possibly damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Or10a3	A	G	7: 108,480,172 (GRCm39)	F214L	probably benign	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Pld3	G	A	7: 27,240,532 (GRCm39)	T136M	probably benign	Het
Prph2	A	T	17: 47,222,092 (GRCm39)	D157V	probably damaging	Het
Racgap1	A	G	15: 99,524,417 (GRCm39)	S357P	probably benign	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc4a11	T	C	2: 130,527,544 (GRCm39)	E617G	probably benign	Het
Smap1	T	C	1: 23,898,139 (GRCm39)	N99S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Sox4	C	T	13: 29,136,613 (GRCm39)	R131Q	probably damaging	Het
Spaca6	T	C	17: 18,058,507 (GRCm39)		probably null	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tpr	T	A	1: 150,317,843 (GRCm39)	F2117Y	probably benign	Het
Traf5	T	C	1: 191,738,806 (GRCm39)	M125V	probably damaging	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Ubp1	T	G	9: 113,793,712 (GRCm39)	S340R	probably damaging	Het
Vit	T	C	17: 78,912,867 (GRCm39)	S267P	probably benign	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Zfp990	T	A	4: 145,264,461 (GRCm39)	H486Q	probably damaging	Het
Zkscan6	T	C	11: 65,719,098 (GRCm39)	S373P	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
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
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'- GGGTATATAGGCTCTCTCCCTG -3'
(R):5'- TCTCAACAGAAGTCCCGCTG -3'

Sequencing Primer
(F):5'- GTATATAGGCTCTCTCCCTGTACATC -3'
(R):5'- AGGCTGCGGCTAACTTTTTC -3'

Posted On

2014-10-15