Incidental Mutation 'R7259:Crh'
ID 564461
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 045351-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R7259 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 19747565-19749560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 19748418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 75 (A75S)
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000061294
AA Change: A75S

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796
AA Change: A75S

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,620,288 (GRCm39) Y258C probably benign Het
Aebp2 A G 6: 140,579,494 (GRCm39) S244G probably benign Het
Agl A T 3: 116,578,230 (GRCm39) Y495N probably damaging Het
Arhgap33 A G 7: 30,231,625 (GRCm39) V120A probably damaging Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atp2a2 A G 5: 122,604,132 (GRCm39) Y434H probably benign Het
Atrnl1 C T 19: 57,924,038 (GRCm39) R1268* probably null Het
AW554918 A G 18: 25,422,906 (GRCm39) probably null Het
Canx A G 11: 50,192,643 (GRCm39) W324R probably damaging Het
Col9a1 A G 1: 24,224,424 (GRCm39) E202G unknown Het
Ctnnal1 T A 4: 56,817,299 (GRCm39) probably null Het
Dmrta2 T A 4: 109,839,104 (GRCm39) S284T possibly damaging Het
Dock1 T C 7: 134,384,477 (GRCm39) V680A probably damaging Het
Duox2 G A 2: 122,125,657 (GRCm39) R317C probably damaging Het
Elmod2 A G 8: 84,048,138 (GRCm39) L108P probably damaging Het
Exoc6b A G 6: 84,825,792 (GRCm39) S540P probably benign Het
Fsip2 C T 2: 82,812,474 (GRCm39) A2931V possibly damaging Het
Gipc2 A T 3: 151,833,693 (GRCm39) I196K probably damaging Het
Gli2 A G 1: 118,764,264 (GRCm39) S1296P probably benign Het
Gm21103 T A 14: 17,482,882 (GRCm39) Q173L probably damaging Het
Gpatch1 A T 7: 34,986,546 (GRCm39) probably null Het
Grm8 G A 6: 27,760,175 (GRCm39) T385I probably null Het
Gtf2f1 C A 17: 57,311,562 (GRCm39) D283Y probably damaging Het
Hcar1 T A 5: 124,017,275 (GRCm39) T139S possibly damaging Het
Hcrtr1 T A 4: 130,029,611 (GRCm39) T157S possibly damaging Het
Htra2 T G 6: 83,028,520 (GRCm39) Q436P possibly damaging Het
Igkv1-133 A G 6: 67,702,522 (GRCm39) D80G probably benign Het
Il21 C A 3: 37,281,803 (GRCm39) probably null Het
Inpp5f T A 7: 128,271,681 (GRCm39) C359S probably benign Het
Itgb6 A T 2: 60,480,355 (GRCm39) I327N probably damaging Het
Itgbl1 A T 14: 124,081,316 (GRCm39) T232S probably damaging Het
Kif1a T A 1: 93,001,532 (GRCm39) K266* probably null Het
Mcm10 C A 2: 5,011,328 (GRCm39) E214D probably benign Het
Mefv T A 16: 3,530,917 (GRCm39) I522F probably damaging Het
Naaladl2 T A 3: 24,112,340 (GRCm39) I581F possibly damaging Het
Naip6 A T 13: 100,440,863 (GRCm39) Y306N probably damaging Het
Opn1sw T A 6: 29,378,911 (GRCm39) H247L probably benign Het
Or4c119 A C 2: 88,986,854 (GRCm39) F222V probably benign Het
Or51v15-ps1 A T 7: 103,278,966 (GRCm39) M67K probably damaging Het
Or5k1b T C 16: 58,580,868 (GRCm39) T224A possibly damaging Het
Or6c68 T A 10: 129,157,663 (GRCm39) M57K probably benign Het
Pbxip1 C A 3: 89,352,940 (GRCm39) F195L probably benign Het
Pcdh12 A T 18: 38,414,677 (GRCm39) F816Y probably benign Het
Pi4k2b C A 5: 52,910,587 (GRCm39) N290K probably damaging Het
Pias2 T C 18: 77,240,416 (GRCm39) S598P possibly damaging Het
Ppfia4 A G 1: 134,240,838 (GRCm39) V835A probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Scg2 T C 1: 79,414,702 (GRCm39) Y7C probably benign Het
Sec16a A G 2: 26,331,604 (GRCm39) V137A probably benign Het
Setdb1 G A 3: 95,247,224 (GRCm39) T525I probably benign Het
Sgcg A T 14: 61,462,666 (GRCm39) I227N probably benign Het
Slc35e4 A T 11: 3,862,530 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Stk10 A G 11: 32,548,497 (GRCm39) N355S probably benign Het
Supt6 A T 11: 78,098,442 (GRCm39) D1716E probably damaging Het
Taok3 C T 5: 117,390,608 (GRCm39) A523V probably benign Het
Tekt3 A G 11: 62,974,592 (GRCm39) T304A possibly damaging Het
Ttc6 G T 12: 57,622,970 (GRCm39) R123L probably benign Het
Tyw1 T A 5: 130,296,713 (GRCm39) probably null Het
Ulk2 A G 11: 61,672,909 (GRCm39) L895P probably damaging Het
Unc13c A T 9: 73,424,645 (GRCm39) N1990K probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wipf1 A G 2: 73,265,425 (GRCm39) S393P probably damaging Het
Yju2b T C 8: 84,986,946 (GRCm39) S184G probably damaging Het
Other mutations in Crh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CATTTCCAAGACTTCCCGCAG -3'
(R):5'- AACCTCGGTGCTTCAGAGAG -3'

Sequencing Primer
(F):5'- CAGAGAGATGGGCGGCTC -3'
(R):5'- TTCAGAGAGCGCCCCTAACATG -3'
Posted On 2019-06-26