Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Crh'

224291

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

040041-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R2034 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

19747565-19749560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19748262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 127 (G127C)

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: G127C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796
AA Change: G127C

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

Meta Mutation Damage Score

0.1488

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,490,378 (GRCm39)	D1018G	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddc	T	A	11: 11,830,456 (GRCm39)	I63L	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Grb14	A	G	2: 64,753,873 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Or5b21	T	A	19: 12,839,151 (GRCm39)	M4K	possibly damaging	Het
Parp4	A	T	14: 56,871,720 (GRCm39)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pink1	T	C	4: 138,045,343 (GRCm39)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Sim2	A	C	16: 93,886,801 (GRCm39)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	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
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
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'- GCGCAACATTTCATTTCCCG -3'
(R):5'- ATCCGCATGGGTGAAGAATACTTC -3'

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

Posted On

2014-08-25