Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Crhbp'

378982

Institutional Source

Beutler Lab

Gene Symbol

Crhbp

Ensembl Gene

ENSMUSG00000021680

Gene Name

corticotropin releasing hormone binding protein

Synonyms

CRH-BP

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R4925 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

95431371-95444924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95443810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 87 (G87V)

Ref Sequence

ENSEMBL: ENSMUSP00000152083 (fasta)

Gene Model

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

AlphaFold

Q60571

Predicted Effect

probably benign
Transcript: ENSMUST00000045583
AA Change: G94V

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042578
Gene: ENSMUSG00000021680
AA Change: G94V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221025
AA Change: G87V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,425,714	C173*	probably null	Het
2210407C18Rik	T	A	11: 58,610,687	T157S	probably damaging	Het
3425401B19Rik	T	A	14: 32,663,180	H276L	possibly damaging	Het
4930430A15Rik	T	C	2: 111,218,616	K273E	probably benign	Het
Adam21	T	G	12: 81,560,389	M200L	probably benign	Het
Adamts3	A	T	5: 89,684,323	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,602,299		probably null	Het
Atp8b2	A	G	3: 89,946,623		probably null	Het
Brd8	T	C	18: 34,607,335	T552A	probably benign	Het
Btaf1	A	G	19: 37,011,333	S1826G	probably benign	Het
C330027C09Rik	T	C	16: 49,016,363		probably null	Het
Ccdc163	A	G	4: 116,711,331	E77G	possibly damaging	Het
Ces2g	A	G	8: 104,964,894	R194G	probably benign	Het
Cln8	A	G	8: 14,895,004	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,674,795	L1391F	probably damaging	Het
Col16a1	G	A	4: 130,054,176	D230N	probably damaging	Het
Cyp3a16	C	T	5: 145,452,834	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,495,936	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,585,290	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 43,979,292	D219E	probably damaging	Het
Fgfr2	A	T	7: 130,185,272	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,453,533	V363M	probably damaging	Het
Foxb1	T	A	9: 69,760,155	E31V	probably damaging	Het
Galnt9	T	C	5: 110,544,739	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,716,257	D77G	probably damaging	Het
Gm21731	A	G	13: 120,240,848	Y60C	probably damaging	Het
Gpr85	A	G	6: 13,835,978	V309A	probably benign	Het
Greb1	T	C	12: 16,681,471	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,669,823	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,715,968	I399L	probably benign	Het
Hectd4	T	C	5: 121,322,690	S911P	possibly damaging	Het
Igkc	A	T	6: 70,726,536	K34*	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Iqgap1	T	A	7: 80,765,317	I149F	probably damaging	Het
Lama1	C	T	17: 67,794,314	A1934V	probably benign	Het
Lrp1	C	A	10: 127,575,075	E1415*	probably null	Het
Macf1	A	C	4: 123,526,652	C270G	probably benign	Het
Marveld3	A	G	8: 109,948,311	V291A	probably benign	Het
Med23	T	C	10: 24,910,747	F917S	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Ncan	A	T	8: 70,109,954	D551E	probably benign	Het
Olfr1269	T	A	2: 90,118,777	T274S	probably damaging	Het
Olfr382	A	T	11: 73,517,172	I9N	possibly damaging	Het
Olfr649	T	C	7: 104,190,180	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,878,818	W34R	probably damaging	Het
Plekha7	A	G	7: 116,158,128	F529S	probably damaging	Het
Ppl	T	A	16: 5,104,982	D215V	probably damaging	Het
Pramef20	A	T	4: 144,377,932	M1K	probably null	Het
Prdm1	T	A	10: 44,440,169	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,607,613	D124V	probably damaging	Het
Ptprc	C	A	1: 138,099,497	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,412,679	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,812,277	Y657F	probably benign	Het
Rrn3	T	C	16: 13,799,972	C360R	probably damaging	Het
Scarb1	T	C	5: 125,297,299	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,515,489	M6K	probably benign	Het
Slco4a1	T	C	2: 180,472,056	Y429H	probably benign	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Taar3	T	A	10: 23,950,543	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,618,651	N285K	probably benign	Het
Tnni2	A	T	7: 142,442,693	E4V	probably benign	Het
Tnpo2	A	T	8: 85,050,025	I454F	probably damaging	Het
Tpr	T	G	1: 150,432,565	H1690Q	probably benign	Het
Trav18	T	C	14: 53,831,120	S6P	probably benign	Het
Trf	T	C	9: 103,219,246	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,137,471	M1V	probably null	Het
Wdr64	T	C	1: 175,724,702		probably null	Het
Wdr73	T	C	7: 80,893,195	S222G	probably benign	Het

Other mutations in Crhbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Crhbp	APN	13	95443787	missense	probably damaging	0.96
IGL03058:Crhbp	APN	13	95443798	missense	probably damaging	1.00
R0518:Crhbp	UTSW	13	95443895	critical splice acceptor site	probably null
R0521:Crhbp	UTSW	13	95443895	critical splice acceptor site	probably null
R1120:Crhbp	UTSW	13	95442085	missense	probably benign	0.01
R4417:Crhbp	UTSW	13	95443877	missense	probably benign	0.02
R4999:Crhbp	UTSW	13	95442245	missense	probably damaging	1.00
R5332:Crhbp	UTSW	13	95436455	missense	probably damaging	0.99
R5568:Crhbp	UTSW	13	95442229	missense	probably damaging	1.00
R5857:Crhbp	UTSW	13	95442232	missense	probably benign	0.01
R5861:Crhbp	UTSW	13	95443825	missense	probably damaging	1.00
R5875:Crhbp	UTSW	13	95443796	missense	probably benign	0.00
R5911:Crhbp	UTSW	13	95432056	missense	probably benign	0.00
R6235:Crhbp	UTSW	13	95443850	missense	probably damaging	1.00
R7038:Crhbp	UTSW	13	95444191	missense	probably damaging	1.00
R7885:Crhbp	UTSW	13	95432007	missense	probably damaging	0.96
R8479:Crhbp	UTSW	13	95442124	missense	possibly damaging	0.94
R9269:Crhbp	UTSW	13	95436516	missense	probably benign
R9676:Crhbp	UTSW	13	95442203	missense	probably damaging	1.00
X0052:Crhbp	UTSW	13	95431993	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-04-15