Incidental Mutation 'R4737:Crhr2'
ID 359339
Institutional Source Beutler Lab
Gene Symbol Crhr2
Ensembl Gene ENSMUSG00000003476
Gene Name corticotropin releasing hormone receptor 2
Synonyms CRF-R2, CRH-R2, Crfr2, CRF 2 receptor, CRFR2beta, CRFR2alpha
MMRRC Submission 042024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R4737 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 55090049-55133016 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55091305 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 423 (H423Q)
Ref Sequence ENSEMBL: ENSMUSP00000148408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003568] [ENSMUST00000095898] [ENSMUST00000114374] [ENSMUST00000164012] [ENSMUST00000212633] [ENSMUST00000213026]
AlphaFold Q60748
Predicted Effect probably damaging
Transcript: ENSMUST00000003568
AA Change: H422Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: H422Q

signal peptide 1 26 N/A INTRINSIC
HormR 56 127 3.55e-28 SMART
Pfam:7tm_2 132 374 8.4e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095898
SMART Domains Protein: ENSMUSP00000093586
Gene: ENSMUSG00000003476

signal peptide 1 19 N/A INTRINSIC
HormR 36 107 1.75e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114374
AA Change: H402Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: H402Q

signal peptide 1 19 N/A INTRINSIC
HormR 36 107 3.55e-28 SMART
Pfam:7tm_2 112 354 9.7e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164012
SMART Domains Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476

signal peptide 1 26 N/A INTRINSIC
HormR 56 127 3.55e-28 SMART
Pfam:7tm_2 132 374 1e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204117
Predicted Effect probably damaging
Transcript: ENSMUST00000212633
AA Change: H423Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213026
AA Change: H403Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2320 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 100% (94/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous inactivation of this gene may result in hypersensitivity to stress, increased anxiety-like behavior, abnormal homeostatic responses to challenges of increased dietary fat and cold, and cardiovascular abnormalities, including hypertension and decreased cardiac contractility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,227,819 (GRCm38) noncoding transcript Het
Acp2 A T 2: 91,210,723 (GRCm38) R419W probably benign Het
Actr5 A G 2: 158,628,071 (GRCm38) N207S probably damaging Het
Afap1 G A 5: 35,961,782 (GRCm38) V254M probably benign Het
Arfgef1 A T 1: 10,189,611 (GRCm38) M544K possibly damaging Het
Arhgap5 A T 12: 52,519,077 (GRCm38) M944L probably benign Het
Bnip3l-ps G A 12: 18,216,772 (GRCm38) noncoding transcript Het
Carf A G 1: 60,109,318 (GRCm38) T58A probably benign Het
Carns1 A G 19: 4,170,928 (GRCm38) probably benign Het
Ccp110 T A 7: 118,724,548 (GRCm38) I670K possibly damaging Het
Cftr T A 6: 18,299,883 (GRCm38) D1218E probably benign Het
Chrna9 A T 5: 65,967,871 (GRCm38) T52S probably damaging Het
Chst9 T C 18: 15,452,777 (GRCm38) Y243C probably damaging Het
Clk2 A T 3: 89,168,709 (GRCm38) H62L probably benign Het
Cntnap2 A T 6: 45,060,317 (GRCm38) R10W possibly damaging Het
Cpt1b C T 15: 89,421,406 (GRCm38) D369N probably benign Het
D8Ertd738e T A 8: 84,249,521 (GRCm38) I33F probably damaging Het
Dbt T C 3: 116,539,132 (GRCm38) I200T probably damaging Het
Ddhd1 A T 14: 45,628,821 (GRCm38) probably benign Het
Ddx27 A G 2: 167,029,299 (GRCm38) I480V probably benign Het
Dpp9 A C 17: 56,198,970 (GRCm38) probably null Het
Dpy19l3 A T 7: 35,703,501 (GRCm38) M562K probably damaging Het
Dus3l T C 17: 56,767,868 (GRCm38) L330P probably damaging Het
Efcab7 C T 4: 99,831,568 (GRCm38) Q96* probably null Het
Egfr T C 11: 16,869,231 (GRCm38) F254L probably damaging Het
Eml5 C T 12: 98,798,852 (GRCm38) V1566M probably damaging Het
Entpd7 T A 19: 43,691,195 (GRCm38) Y62* probably null Het
Erbb4 T C 1: 68,343,900 (GRCm38) M313V probably damaging Het
Gm5528 A G 1: 72,004,552 (GRCm38) noncoding transcript Het
H2-M9 G T 17: 36,640,739 (GRCm38) Y281* probably null Het
Hmcn1 T G 1: 150,689,595 (GRCm38) K2260N possibly damaging Het
Hnf4a A G 2: 163,564,219 (GRCm38) I259V probably benign Het
Ick A G 9: 78,150,654 (GRCm38) T162A probably damaging Het
Insm1 A T 2: 146,222,902 (GRCm38) T213S probably benign Het
Iqca T C 1: 90,077,822 (GRCm38) D488G probably damaging Het
Kdm5a T A 6: 120,406,015 (GRCm38) probably benign Het
Kdm7a G C 6: 39,152,839 (GRCm38) L468V possibly damaging Het
Lck G A 4: 129,555,984 (GRCm38) T229I possibly damaging Het
Lig3 T C 11: 82,787,727 (GRCm38) L265P probably damaging Het
Lipa T A 19: 34,501,634 (GRCm38) K229* probably null Het
Lrrk1 C T 7: 66,306,873 (GRCm38) S418N probably benign Het
Mark2 A G 19: 7,281,232 (GRCm38) V126A probably damaging Het
Met T C 6: 17,491,541 (GRCm38) C101R probably damaging Het
Mkln1 A T 6: 31,426,799 (GRCm38) K85M probably damaging Het
Mst1 A G 9: 108,080,521 (GRCm38) R15G probably benign Het
Muc6 T G 7: 141,640,159 (GRCm38) probably benign Het
Muc6 G T 7: 141,638,772 (GRCm38) T1996N possibly damaging Het
Myo7b T C 18: 31,998,602 (GRCm38) S514G probably damaging Het
Narfl A T 17: 25,781,309 (GRCm38) H322L probably damaging Het
Nars T C 18: 64,516,427 (GRCm38) E11G probably benign Het
Ogdh T A 11: 6,297,044 (GRCm38) F23I probably benign Het
Olfr1121 T C 2: 87,372,321 (GRCm38) I263T probably damaging Het
Olfr1186 C T 2: 88,526,225 (GRCm38) S214F probably damaging Het
Olfr1238 C T 2: 89,406,486 (GRCm38) V198I probably benign Het
Olfr1272 A G 2: 90,282,381 (GRCm38) S65P probably damaging Het
Olfr584 C T 7: 103,085,914 (GRCm38) A127V probably damaging Het
Olfr825 T A 10: 130,162,838 (GRCm38) T163S probably benign Het
Olfr979 A T 9: 40,000,422 (GRCm38) D268E probably damaging Het
Otub2 T A 12: 103,392,844 (GRCm38) L64Q probably benign Het
Pappa2 T C 1: 158,957,012 (GRCm38) R143G probably benign Het
Patl2 T A 2: 122,125,306 (GRCm38) T250S probably damaging Het
Pcdhac2 C T 18: 37,145,899 (GRCm38) T644I possibly damaging Het
Pi4kb C T 3: 95,004,338 (GRCm38) T690I probably damaging Het
Pla2g4d T C 2: 120,266,790 (GRCm38) Y776C probably benign Het
Plekhh2 C T 17: 84,563,959 (GRCm38) S215L probably benign Het
Psmd2 T G 16: 20,659,815 (GRCm38) probably benign Het
Ptpn21 T C 12: 98,708,844 (GRCm38) E183G probably benign Het
Ptprg T A 14: 12,226,314 (GRCm38) D527E probably damaging Het
Rhobtb1 T A 10: 69,279,497 (GRCm38) probably null Het
Scel T A 14: 103,572,037 (GRCm38) M271K possibly damaging Het
Senp3 A T 11: 69,678,829 (GRCm38) C310* probably null Het
Slc25a3 T C 10: 91,122,188 (GRCm38) T97A possibly damaging Het
Srsf11 A T 3: 158,026,732 (GRCm38) Y82* probably null Het
Tbc1d8 G A 1: 39,402,878 (GRCm38) T211I possibly damaging Het
Tbkbp1 T C 11: 97,148,648 (GRCm38) E145G probably damaging Het
Tln1 T C 4: 43,540,588 (GRCm38) N1471S probably benign Het
Tnn T G 1: 160,146,089 (GRCm38) D236A probably damaging Het
Trmt2a C T 16: 18,251,286 (GRCm38) probably benign Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Ubxn10 G A 4: 138,735,948 (GRCm38) probably benign Het
Ulk4 G A 9: 121,073,872 (GRCm38) Q1180* probably null Het
Usp43 T A 11: 67,855,505 (GRCm38) K1120N probably damaging Het
Uspl1 T A 5: 149,194,339 (GRCm38) L244Q possibly damaging Het
Vmn1r32 T C 6: 66,553,645 (GRCm38) H49R probably damaging Het
Vmn2r4 T C 3: 64,409,963 (GRCm38) D118G probably damaging Het
Vwce A G 19: 10,650,579 (GRCm38) I468V probably benign Het
Zbtb7c G T 18: 76,146,154 (GRCm38) R561L probably benign Het
Zfp956 T C 6: 47,962,542 (GRCm38) S175P probably damaging Het
Other mutations in Crhr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Crhr2 APN 6 55,103,180 (GRCm38) missense probably damaging 1.00
R0278:Crhr2 UTSW 6 55,117,531 (GRCm38) missense probably benign 0.16
R1056:Crhr2 UTSW 6 55,100,735 (GRCm38) missense probably damaging 1.00
R1701:Crhr2 UTSW 6 55,099,270 (GRCm38) missense probably damaging 1.00
R1702:Crhr2 UTSW 6 55,092,535 (GRCm38) missense probably damaging 1.00
R2697:Crhr2 UTSW 6 55,102,830 (GRCm38) missense probably damaging 1.00
R4020:Crhr2 UTSW 6 55,100,780 (GRCm38) splice site probably benign
R4030:Crhr2 UTSW 6 55,117,677 (GRCm38) missense probably benign 0.34
R4527:Crhr2 UTSW 6 55,132,853 (GRCm38) utr 5 prime probably benign
R4698:Crhr2 UTSW 6 55,102,867 (GRCm38) missense possibly damaging 0.90
R5437:Crhr2 UTSW 6 55,100,733 (GRCm38) missense probably damaging 1.00
R5718:Crhr2 UTSW 6 55,092,100 (GRCm38) nonsense probably null
R5719:Crhr2 UTSW 6 55,103,222 (GRCm38) missense probably damaging 1.00
R5945:Crhr2 UTSW 6 55,100,682 (GRCm38) missense possibly damaging 0.93
R6046:Crhr2 UTSW 6 55,091,292 (GRCm38) missense probably damaging 1.00
R6358:Crhr2 UTSW 6 55,093,043 (GRCm38) missense probably benign 0.20
R6826:Crhr2 UTSW 6 55,117,740 (GRCm38) intron probably benign
R7011:Crhr2 UTSW 6 55,099,210 (GRCm38) critical splice donor site probably null
R7131:Crhr2 UTSW 6 55,092,127 (GRCm38) missense
R7820:Crhr2 UTSW 6 55,102,779 (GRCm38) missense probably damaging 0.97
R8340:Crhr2 UTSW 6 55,102,846 (GRCm38) missense probably damaging 0.98
R8378:Crhr2 UTSW 6 55,092,956 (GRCm38) missense probably damaging 1.00
R8693:Crhr2 UTSW 6 55,102,794 (GRCm38) missense possibly damaging 0.87
R9434:Crhr2 UTSW 6 55,092,527 (GRCm38) missense probably damaging 1.00
Z1088:Crhr2 UTSW 6 55,103,216 (GRCm38) missense possibly damaging 0.69
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11