Incidental Mutation 'R8693:Crhr2'
ID 668494
Institutional Source Beutler Lab
Gene Symbol Crhr2
Ensembl Gene ENSMUSG00000003476
Gene Name corticotropin releasing hormone receptor 2
Synonyms CRF 2 receptor, Crfr2, CRFR2beta, CRFR2alpha, CRF-R2, CRH-R2
MMRRC Submission 068547-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R8693 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 55067034-55110001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55079779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 187 (F187S)
Ref Sequence ENSEMBL: ENSMUSP00000148408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003568] [ENSMUST00000095898] [ENSMUST00000114374] [ENSMUST00000164012] [ENSMUST00000212633] [ENSMUST00000213026]
AlphaFold Q60748
Predicted Effect possibly damaging
Transcript: ENSMUST00000003568
AA Change: F186S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: F186S

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000095898
SMART Domains Protein: ENSMUSP00000093586
Gene: ENSMUSG00000003476

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
HormR 36 107 1.75e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114374
AA Change: F166S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: F166S

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: F187S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
HormR 56 127 3.55e-28 SMART
Pfam:7tm_2 132 374 1e-79 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212633
AA Change: F187S

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213026
AA Change: F167S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,810,474 (GRCm39) S924P probably benign Het
Acacb A G 5: 114,364,844 (GRCm39) H1508R probably damaging Het
Adam34 T C 8: 44,104,641 (GRCm39) M335V probably benign Het
Akap8 A T 17: 32,529,625 (GRCm39) N438K probably damaging Het
Alpi C A 1: 87,026,405 (GRCm39) G529C unknown Het
Arhgap30 T C 1: 171,225,094 (GRCm39) V50A probably damaging Het
Armh1 T C 4: 117,088,960 (GRCm39) E145G probably damaging Het
Ccdc177 A G 12: 80,804,582 (GRCm39) L564P unknown Het
Cdk12 C T 11: 98,141,133 (GRCm39) P1458L unknown Het
Chek1 A G 9: 36,625,140 (GRCm39) F314L probably benign Het
Cndp1 T C 18: 84,646,938 (GRCm39) D250G probably damaging Het
Cnot3 T C 7: 3,656,522 (GRCm39) V239A probably benign Het
Cplane1 T C 15: 8,258,492 (GRCm39) M2246T probably benign Het
Dchs2 T A 3: 83,192,631 (GRCm39) V1692D probably damaging Het
Dctd T A 8: 48,565,046 (GRCm39) I57N probably damaging Het
Dennd5b A T 6: 148,911,272 (GRCm39) L977* probably null Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dysf T C 6: 84,088,952 (GRCm39) S865P probably damaging Het
Eif2ak3 A T 6: 70,858,535 (GRCm39) I275F possibly damaging Het
Eif2ak4 T A 2: 118,262,718 (GRCm39) I757N probably damaging Het
Exog A G 9: 119,276,108 (GRCm39) Q110R possibly damaging Het
Fbxl4 T C 4: 22,403,704 (GRCm39) C426R probably benign Het
Fndc11 A C 2: 180,863,864 (GRCm39) H223P probably damaging Het
Frmd3 T A 4: 74,080,286 (GRCm39) S334R probably damaging Het
Galnt14 A T 17: 73,833,257 (GRCm39) I239N probably damaging Het
Gm5930 C T 14: 44,576,015 (GRCm39) M1I probably null Het
Igkv4-63 A G 6: 69,355,051 (GRCm39) S77P probably benign Het
Igkv5-48 G A 6: 69,703,779 (GRCm39) S42F probably damaging Het
Kalrn T A 16: 33,854,884 (GRCm39) Y1992F probably damaging Het
Kmt2a T C 9: 44,721,981 (GRCm39) Y3788C unknown Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lpo T C 11: 87,700,066 (GRCm39) N525S probably benign Het
Med1 T C 11: 98,046,599 (GRCm39) H1399R unknown Het
Mga T A 2: 119,794,407 (GRCm39) V2697E possibly damaging Het
Msto1 T C 3: 88,819,184 (GRCm39) T188A probably benign Het
Nrap T C 19: 56,310,384 (GRCm39) H1456R probably damaging Het
Or10d1 G T 9: 39,483,800 (GRCm39) P252T probably damaging Het
Pbld1 A T 10: 62,910,890 (GRCm39) K248* probably null Het
Pcdhb12 G A 18: 37,570,474 (GRCm39) R540H probably benign Het
Pcx G T 19: 4,652,039 (GRCm39) A96S probably damaging Het
Plcb1 A G 2: 135,094,696 (GRCm39) I174V probably benign Het
Psme3 T C 11: 101,211,422 (GRCm39) I193T probably damaging Het
Pygl A T 12: 70,244,180 (GRCm39) M587K probably benign Het
Rph3a A T 5: 121,100,501 (GRCm39) H132Q probably damaging Het
Scrib C A 15: 75,936,354 (GRCm39) D501Y probably damaging Het
Sdad1 C A 5: 92,452,857 (GRCm39) R127L probably benign Het
Setdb1 T C 3: 95,249,041 (GRCm39) T356A probably damaging Het
Sh3bgrl3 T C 4: 133,855,116 (GRCm39) D73G probably benign Het
Sipa1l1 G T 12: 82,216,517 (GRCm39) probably benign Het
Slc17a8 G A 10: 89,428,758 (GRCm39) A261V probably benign Het
Sox6 T A 7: 115,261,632 (GRCm39) I195F probably damaging Het
Syne1 T C 10: 5,090,928 (GRCm39) K809E possibly damaging Het
Tmem30c G A 16: 57,086,855 (GRCm39) T316M probably damaging Het
Tnfrsf19 T C 14: 61,208,451 (GRCm39) T357A probably benign Het
Top2a T A 11: 98,900,868 (GRCm39) T574S probably damaging Het
Trappc3l G A 10: 33,974,917 (GRCm39) C133Y probably damaging Het
Unk C T 11: 115,938,640 (GRCm39) T81I probably damaging Het
Vamp1 G A 6: 125,217,388 (GRCm39) R144K unknown Het
Wnt9b T C 11: 103,624,487 (GRCm39) N101S probably damaging Het
Wwtr1 T A 3: 57,369,945 (GRCm39) D390V probably damaging Het
Other mutations in Crhr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Crhr2 APN 6 55,080,165 (GRCm39) missense probably damaging 1.00
R0278:Crhr2 UTSW 6 55,094,516 (GRCm39) missense probably benign 0.16
R1056:Crhr2 UTSW 6 55,077,720 (GRCm39) missense probably damaging 1.00
R1701:Crhr2 UTSW 6 55,076,255 (GRCm39) missense probably damaging 1.00
R1702:Crhr2 UTSW 6 55,069,520 (GRCm39) missense probably damaging 1.00
R2697:Crhr2 UTSW 6 55,079,815 (GRCm39) missense probably damaging 1.00
R4020:Crhr2 UTSW 6 55,077,765 (GRCm39) splice site probably benign
R4030:Crhr2 UTSW 6 55,094,662 (GRCm39) missense probably benign 0.34
R4527:Crhr2 UTSW 6 55,109,838 (GRCm39) utr 5 prime probably benign
R4698:Crhr2 UTSW 6 55,079,852 (GRCm39) missense possibly damaging 0.90
R4737:Crhr2 UTSW 6 55,068,290 (GRCm39) missense probably damaging 1.00
R5437:Crhr2 UTSW 6 55,077,718 (GRCm39) missense probably damaging 1.00
R5718:Crhr2 UTSW 6 55,069,085 (GRCm39) nonsense probably null
R5719:Crhr2 UTSW 6 55,080,207 (GRCm39) missense probably damaging 1.00
R5945:Crhr2 UTSW 6 55,077,667 (GRCm39) missense possibly damaging 0.93
R6046:Crhr2 UTSW 6 55,068,277 (GRCm39) missense probably damaging 1.00
R6358:Crhr2 UTSW 6 55,070,028 (GRCm39) missense probably benign 0.20
R6826:Crhr2 UTSW 6 55,094,725 (GRCm39) intron probably benign
R7011:Crhr2 UTSW 6 55,076,195 (GRCm39) critical splice donor site probably null
R7131:Crhr2 UTSW 6 55,069,112 (GRCm39) missense
R7820:Crhr2 UTSW 6 55,079,764 (GRCm39) missense probably damaging 0.97
R8340:Crhr2 UTSW 6 55,079,831 (GRCm39) missense probably damaging 0.98
R8378:Crhr2 UTSW 6 55,069,941 (GRCm39) missense probably damaging 1.00
R9434:Crhr2 UTSW 6 55,069,512 (GRCm39) missense probably damaging 1.00
Z1088:Crhr2 UTSW 6 55,080,201 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- CCTGGATTTGTAAGGTGGACCG -3'
(R):5'- GTCCTTAGGCTCTGGTTCAG -3'

Sequencing Primer
(F):5'- GCATGCAGTGATAGCTTTAGC -3'
(R):5'- GCTCTGGTTCAGCCCCAC -3'
Posted On 2021-04-30