Incidental Mutation 'R5718:Crhr2'
ID 451273
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 043338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R5718 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 55067034-55110001 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 55069085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 397 (Q397*)
Ref Sequence ENSEMBL: ENSMUSP00000126673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003568] [ENSMUST00000095898] [ENSMUST00000114374] [ENSMUST00000164012] [ENSMUST00000212633] [ENSMUST00000213026]
AlphaFold Q60748
Predicted Effect probably benign
Transcript: ENSMUST00000003568
SMART Domains Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476

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 probably benign
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 benign
Transcript: ENSMUST00000114374
SMART Domains Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476

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 null
Transcript: ENSMUST00000164012
AA Change: Q397*
SMART Domains Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: Q397*

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: ENSMUST00000204117
Predicted Effect probably benign
Transcript: ENSMUST00000212633
Predicted Effect probably benign
Transcript: ENSMUST00000213026
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 T C 8: 27,603,514 (GRCm39) probably null Het
Ahctf1 G T 1: 179,596,904 (GRCm39) H81N possibly damaging Het
Alyref2 T C 1: 171,331,678 (GRCm39) S152P possibly damaging Het
Arhgef7 C T 8: 11,835,774 (GRCm39) T20I probably damaging Het
Armc3 T G 2: 19,308,610 (GRCm39) Y759* probably null Het
Atg5 A G 10: 44,238,983 (GRCm39) S255G probably benign Het
Atp11b A G 3: 35,891,665 (GRCm39) I1026V probably benign Het
Atp1a2 C A 1: 172,107,009 (GRCm39) K770N probably damaging Het
Bptf G T 11: 107,002,260 (GRCm39) A284E probably damaging Het
Celsr2 A G 3: 108,300,674 (GRCm39) S815P probably benign Het
Chrna5 A G 9: 54,905,389 (GRCm39) H67R probably benign Het
Cic A G 7: 24,972,203 (GRCm39) I645V probably benign Het
Clpx A T 9: 65,207,246 (GRCm39) Q48L probably benign Het
Cyp11a1 G A 9: 57,925,508 (GRCm39) V48I probably benign Het
Dchs1 C T 7: 105,404,955 (GRCm39) R2529H probably benign Het
Dnah7c A T 1: 46,787,826 (GRCm39) H3293L possibly damaging Het
Dock6 G T 9: 21,735,789 (GRCm39) D986E probably benign Het
Efcab6 T A 15: 83,788,439 (GRCm39) N952Y probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epg5 G A 18: 78,029,618 (GRCm39) C1327Y probably damaging Het
Fbxw18 T C 9: 109,520,636 (GRCm39) E241G probably benign Het
Fsd1 T G 17: 56,297,542 (GRCm39) probably benign Het
Gcnt3 A G 9: 69,941,552 (GRCm39) S339P probably benign Het
Gldc T A 19: 30,088,172 (GRCm39) K829* probably null Het
Gli3 G A 13: 15,652,750 (GRCm39) probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Hmcn1 A T 1: 150,566,351 (GRCm39) C2217* probably null Het
Hmcn1 A T 1: 150,485,417 (GRCm39) I4395N probably damaging Het
Hmgxb3 A G 18: 61,273,909 (GRCm39) M861T probably benign Het
Ift172 A G 5: 31,412,621 (GRCm39) S1545P possibly damaging Het
Jak3 C A 8: 72,136,998 (GRCm39) L725M probably damaging Het
Lrig2 A T 3: 104,375,931 (GRCm39) C90* probably null Het
Mcm7 C T 5: 138,163,081 (GRCm39) R357H possibly damaging Het
Mcoln2 T C 3: 145,887,581 (GRCm39) S333P probably damaging Het
Mrpl22 A T 11: 58,068,109 (GRCm39) I136L probably benign Het
Ncam2 A T 16: 81,386,702 (GRCm39) probably null Het
Ncdn G A 4: 126,643,743 (GRCm39) Q360* probably null Het
Nsun2 A G 13: 69,771,403 (GRCm39) K338E probably benign Het
Obscn T C 11: 58,927,634 (GRCm39) T6105A probably damaging Het
Or2aj6 G A 16: 19,443,139 (GRCm39) S237F probably benign Het
Or8g36 A T 9: 39,422,338 (GRCm39) L226H probably damaging Het
Pcnx4 T A 12: 72,613,968 (GRCm39) F638I possibly damaging Het
Pfn3 T C 13: 55,562,853 (GRCm39) I43V probably benign Het
Pigm C A 1: 172,205,012 (GRCm39) probably null Het
Pkhd1l1 T A 15: 44,408,813 (GRCm39) S2433R probably damaging Het
Pomt1 C A 2: 32,138,704 (GRCm39) A440D possibly damaging Het
Ptprj T C 2: 90,288,613 (GRCm39) D691G probably benign Het
Qrich1 T A 9: 108,406,022 (GRCm39) S72T probably damaging Het
Ralgapa2 T A 2: 146,295,326 (GRCm39) probably null Het
Rarg A C 15: 102,149,502 (GRCm39) S156A probably damaging Het
Rasl11a A G 5: 146,783,954 (GRCm39) K133R probably benign Het
Rcor1 A G 12: 111,068,069 (GRCm39) D158G probably benign Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Sipa1l2 T A 8: 126,217,987 (GRCm39) H450L probably damaging Het
Slc25a21 T C 12: 56,764,941 (GRCm39) I263V probably benign Het
Slc25a32 A T 15: 38,960,957 (GRCm39) V242E probably benign Het
Slc5a5 T A 8: 71,340,399 (GRCm39) T484S probably benign Het
Tdrd3 T C 14: 87,743,876 (GRCm39) V608A probably benign Het
Thnsl1 C A 2: 21,216,811 (GRCm39) H188Q possibly damaging Het
Tshz1 A T 18: 84,032,649 (GRCm39) H586Q probably damaging Het
Vmn2r27 C T 6: 124,169,103 (GRCm39) A676T possibly damaging Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Xbp1 T A 11: 5,471,903 (GRCm39) F10I probably benign Het
Zbtb1 G A 12: 76,433,698 (GRCm39) M561I probably benign Het
Zfp708 T C 13: 67,218,522 (GRCm39) K446E probably benign 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
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'- TGTAATGGAAGACAACAGCTTCTTC -3'
(R):5'- AAGCCAGGAGTAACATGCCTG -3'

Sequencing Primer
(F):5'- GACAACAGCTTCTTCCTTAGAGG -3'
(R):5'- GAGTAACATGCCTGTGCTCAATG -3'
Posted On 2017-01-03