Incidental Mutation 'R2697:Crhr2'
ID 251176
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 040435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R2697 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 55067034-55110001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55079815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 155 (L155P)
Ref Sequence ENSEMBL: ENSMUSP00000148297 (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: L174P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: L174P

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 probably damaging
Transcript: ENSMUST00000114374
AA Change: L154P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: L154P

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 probably damaging
Transcript: ENSMUST00000164012
AA Change: L175P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: L175P

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 noncoding transcript
Transcript: ENSMUST00000166954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169777
Predicted Effect probably damaging
Transcript: ENSMUST00000212633
AA Change: L175P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213026
AA Change: L155P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204117
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T C 6: 132,603,619 (GRCm39) S46G unknown Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam7 A T 14: 68,752,232 (GRCm39) C417* probably null Het
Adgrl4 A C 3: 151,216,260 (GRCm39) Q481P probably damaging Het
Adra2c C A 5: 35,438,042 (GRCm39) N271K probably benign Het
Ahctf1 T C 1: 179,580,097 (GRCm39) K2035R probably damaging Het
Ano3 T C 2: 110,625,305 (GRCm39) T182A possibly damaging Het
Armc3 T C 2: 19,308,746 (GRCm39) Y805H probably damaging Het
BC024139 TCCACCACCACCACCACCAC TCCACCACCACCACCAC 15: 76,004,393 (GRCm39) probably benign Het
Cabp7 C T 11: 4,688,837 (GRCm39) R211H probably damaging Het
Ccdc117 T C 11: 5,484,888 (GRCm39) N112S possibly damaging Het
Cep120 C T 18: 53,873,197 (GRCm39) D45N probably benign Het
Cpsf1 T C 15: 76,483,529 (GRCm39) Y872C probably damaging Het
Cradd A G 10: 95,011,807 (GRCm39) L111P probably damaging Het
Fgd2 A T 17: 29,595,895 (GRCm39) T518S probably damaging Het
Gpam C T 19: 55,071,641 (GRCm39) E367K probably damaging Het
Gtf3c1 T A 7: 125,243,126 (GRCm39) N1826I probably damaging Het
Kcnq5 T C 1: 21,549,656 (GRCm39) E357G probably damaging Het
Krt1 T A 15: 101,755,364 (GRCm39) D465V probably damaging Het
Lcor T A 19: 41,572,466 (GRCm39) V407E probably benign Het
Macrod1 T C 19: 7,174,157 (GRCm39) V221A probably damaging Het
Mbd1 T C 18: 74,406,688 (GRCm39) S144P possibly damaging Het
Mtfmt T C 9: 65,359,303 (GRCm39) V326A probably benign Het
Myo1b T C 1: 51,902,517 (GRCm39) D71G probably benign Het
Myo1h A G 5: 114,493,274 (GRCm39) Y705C probably damaging Het
Nudt9 T C 5: 104,212,859 (GRCm39) W311R probably damaging Het
Or11g27 C T 14: 50,771,238 (GRCm39) A123V probably damaging Het
Or2a57 A T 6: 43,213,060 (GRCm39) I173F probably damaging Het
Or2h15 A G 17: 38,441,900 (GRCm39) F61S probably damaging Het
Or6c65 G A 10: 129,603,793 (GRCm39) V143I probably benign Het
Osbp2 A T 11: 3,813,407 (GRCm39) L154Q probably benign Het
P3h1 A G 4: 119,104,377 (GRCm39) T633A probably damaging Het
Polq T G 16: 36,862,515 (GRCm39) L616R probably damaging Het
Pon3 A G 6: 5,232,429 (GRCm39) L197S possibly damaging Het
Rap1gds1 C T 3: 138,689,482 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rfng C A 11: 120,674,865 (GRCm39) probably benign Het
Rps6ka2 T G 17: 7,567,721 (GRCm39) L728R probably benign Het
Slc41a3 C A 6: 90,619,302 (GRCm39) N360K possibly damaging Het
Sult1e1 T C 5: 87,726,397 (GRCm39) N239S probably damaging Het
Tacr1 T A 6: 82,469,578 (GRCm39) I154N probably damaging Het
Tacstd2 T A 6: 67,512,203 (GRCm39) H163L probably benign Het
Tent5a T C 9: 85,206,793 (GRCm39) D335G possibly damaging Het
Tiam1 T C 16: 89,590,052 (GRCm39) S1382G probably benign Het
Tmem43 A G 6: 91,456,911 (GRCm39) E164G possibly damaging Het
U2af2 G A 7: 5,070,545 (GRCm39) R78H probably benign Het
Yipf7 T A 5: 69,698,483 (GRCm39) D8V possibly damaging Het
Zfp58 G A 13: 67,639,124 (GRCm39) H456Y probably damaging Het
Zfp799 G A 17: 33,039,214 (GRCm39) R351* probably null Het
Zfyve9 T C 4: 108,553,016 (GRCm39) D715G 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
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
R8693:Crhr2 UTSW 6 55,079,779 (GRCm39) missense possibly damaging 0.87
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'- CTACATGAGACAGGCTAGGAACC -3'
(R):5'- AGTGGGTTTAAGTCAGACCCC -3'

Sequencing Primer
(F):5'- GCTAGGAACCGACAGGCAC -3'
(R):5'- AGCCTGCCTGAAGGGTAG -3'
Posted On 2014-12-04