Mutagenetix > Incidental Mutation

Incidental Mutation 'R7885:Crhbp'

609028

Institutional Source

Beutler Lab

Gene Symbol

Crhbp

Ensembl Gene

ENSMUSG00000021680

Gene Name

corticotropin releasing hormone binding protein

Synonyms

CRH-BP

MMRRC Submission

045937-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95567884-95581339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95568515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 307 (Q307R)

Ref Sequence

ENSEMBL: ENSMUSP00000042578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045583] [ENSMUST00000221025]

AlphaFold

Q60571

Predicted Effect

probably damaging
Transcript: ENSMUST00000045583
AA Change: Q307R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042578
Gene: ENSMUSG00000021680
AA Change: Q307R

Domain	Start	End	E-Value	Type
Pfam:CRF-BP	1	307	1.1e-179	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221025
AA Change: Q300R

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display behavior indicative of increased anxiety. Male mice also show reduced food intake resulting in reduced growth between ages 7 and 15 weeks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,131,542 (GRCm39)	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,717,337 (GRCm39)	R244H	possibly damaging	Het
Asic5	A	T	3: 81,913,812 (GRCm39)	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,876 (GRCm39)	F76S	probably damaging	Het
Bin1	G	A	18: 32,552,896 (GRCm39)	A174T	probably damaging	Het
Bnipl	A	C	3: 95,157,551 (GRCm39)	S23A	probably benign	Het
Cd19	T	C	7: 126,011,303 (GRCm39)	T294A	probably benign	Het
Cdon	G	A	9: 35,367,818 (GRCm39)	V238I	probably benign	Het
Chd3	A	T	11: 69,247,451 (GRCm39)	D957E	probably benign	Het
Cst3	A	G	2: 148,714,741 (GRCm39)	M112T	probably benign	Het
Dgkb	A	G	12: 38,189,425 (GRCm39)	E276G	probably damaging	Het
Exoc4	T	A	6: 33,735,001 (GRCm39)	N539K	probably benign	Het
Gm3099	A	G	14: 15,345,429 (GRCm39)	E85G	probably benign	Het
Gpatch2	A	G	1: 186,957,698 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,704,776 (GRCm39)	Y26*	probably null	Het
Hspg2	A	T	4: 137,244,148 (GRCm39)	D802V	probably damaging	Het
Ifih1	A	G	2: 62,431,813 (GRCm39)	V846A	possibly damaging	Het
Lama4	T	A	10: 38,964,840 (GRCm39)	S1402T	probably benign	Het
Lrmda	A	G	14: 22,648,388 (GRCm39)	T73A	unknown	Het
Lrrc1	A	T	9: 77,349,471 (GRCm39)	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,393,868 (GRCm39)	Q519L	probably benign	Het
Mlc1	G	T	15: 88,862,107 (GRCm39)	D36E	probably benign	Het
Mrc2	A	T	11: 105,223,092 (GRCm39)	D445V	probably damaging	Het
Muc16	A	G	9: 18,550,760 (GRCm39)	S5178P	probably benign	Het
Nbea	A	G	3: 55,573,110 (GRCm39)	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,389,044 (GRCm39)	I77T	probably damaging	Het
Npepps	G	T	11: 97,109,474 (GRCm39)	H701N	probably damaging	Het
Or4n4b	T	G	14: 50,536,041 (GRCm39)	T242P	probably damaging	Het
Or7g22	A	T	9: 19,048,831 (GRCm39)	I181F	possibly damaging	Het
Pclo	T	TTCTAG	5: 14,764,209 (GRCm39)		probably null	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,764,205 (GRCm39)		probably null	Het
Pi4kb	T	C	3: 94,906,387 (GRCm39)	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,383,528 (GRCm39)	A449V	possibly damaging	Het
Plat	A	G	8: 23,261,736 (GRCm39)	T45A	probably benign	Het
Platr25	T	C	13: 62,848,676 (GRCm39)	K62R	possibly damaging	Het
Ppp5c	A	G	7: 16,740,111 (GRCm39)	V410A	possibly damaging	Het
Prdm2	C	T	4: 142,861,140 (GRCm39)	A717T	probably benign	Het
Pstpip2	C	A	18: 77,882,422 (GRCm39)	T2K	probably benign	Het
Ptpn12	A	C	5: 21,203,523 (GRCm39)	S418R	possibly damaging	Het
Rint1	A	G	5: 24,010,642 (GRCm39)	S255G	probably benign	Het
Rmc1	T	C	18: 12,322,371 (GRCm39)	L608P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Stab2	T	C	10: 86,714,776 (GRCm39)	H1581R	probably benign	Het
Stau2	T	C	1: 16,530,577 (GRCm39)	Y114C	unknown	Het
Ticam1	T	C	17: 56,578,067 (GRCm39)	T343A	probably benign	Het
Tmem131l	T	C	3: 83,817,724 (GRCm39)	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 20,013,385 (GRCm39)	F169I	probably benign	Het
Vps33a	T	C	5: 123,673,312 (GRCm39)	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,258,089 (GRCm39)	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,313,598 (GRCm39)	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,222,193 (GRCm39)	D62E	probably benign	Het

Other mutations in Crhbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Crhbp	APN	13	95,580,295 (GRCm39)	missense	probably damaging	0.96
IGL03058:Crhbp	APN	13	95,580,306 (GRCm39)	missense	probably damaging	1.00
R0518:Crhbp	UTSW	13	95,580,403 (GRCm39)	critical splice acceptor site	probably null
R0521:Crhbp	UTSW	13	95,580,403 (GRCm39)	critical splice acceptor site	probably null
R1120:Crhbp	UTSW	13	95,578,593 (GRCm39)	missense	probably benign	0.01
R4417:Crhbp	UTSW	13	95,580,385 (GRCm39)	missense	probably benign	0.02
R4925:Crhbp	UTSW	13	95,580,318 (GRCm39)	missense	possibly damaging	0.93
R4999:Crhbp	UTSW	13	95,578,753 (GRCm39)	missense	probably damaging	1.00
R5332:Crhbp	UTSW	13	95,572,963 (GRCm39)	missense	probably damaging	0.99
R5568:Crhbp	UTSW	13	95,578,737 (GRCm39)	missense	probably damaging	1.00
R5857:Crhbp	UTSW	13	95,578,740 (GRCm39)	missense	probably benign	0.01
R5861:Crhbp	UTSW	13	95,580,333 (GRCm39)	missense	probably damaging	1.00
R5875:Crhbp	UTSW	13	95,580,304 (GRCm39)	missense	probably benign	0.00
R5911:Crhbp	UTSW	13	95,568,564 (GRCm39)	missense	probably benign	0.00
R6235:Crhbp	UTSW	13	95,580,358 (GRCm39)	missense	probably damaging	1.00
R7038:Crhbp	UTSW	13	95,580,699 (GRCm39)	missense	probably damaging	1.00
R8479:Crhbp	UTSW	13	95,578,632 (GRCm39)	missense	possibly damaging	0.94
R9269:Crhbp	UTSW	13	95,573,024 (GRCm39)	missense	probably benign
R9676:Crhbp	UTSW	13	95,578,711 (GRCm39)	missense	probably damaging	1.00
X0052:Crhbp	UTSW	13	95,568,501 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGGCCTGGAGTACTGATTG -3'
(R):5'- GCAAGATGCCATATATCCCTGG -3'

Sequencing Primer
(F):5'- CCTGGAGTACTGATTGGAAGACTTTC -3'
(R):5'- AAGATGCCATATATCCCTGGTCTCC -3'

Posted On

2019-12-20