Incidental Mutation 'R1056:Crhr2'
ID 94359
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 039146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R1056 (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 T at 55077720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 214 (V214E)
Ref Sequence ENSEMBL: ENSMUSP00000003568 (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: V214E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: V214E

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 damaging
Transcript: ENSMUST00000114374
AA Change: V194E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: V194E

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 possibly damaging
Transcript: ENSMUST00000164012
AA Change: V215E

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: V215E

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: V215E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213026
AA Change: V195E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204117
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,924,295 (GRCm39) Y1649C probably damaging Het
Abcc10 A C 17: 46,614,880 (GRCm39) C1459W possibly damaging Het
Amfr A T 8: 94,712,097 (GRCm39) F278I probably benign Het
Anks1b G T 10: 90,757,291 (GRCm39) probably null Het
Bak1 A G 17: 27,240,247 (GRCm39) S147P possibly damaging Het
Bltp1 C A 3: 37,037,602 (GRCm39) H2469N possibly damaging Het
Bltp1 T A 3: 37,098,829 (GRCm39) M1152K probably benign Het
C7 T C 15: 5,075,260 (GRCm39) N144S possibly damaging Het
Casd1 T C 6: 4,641,967 (GRCm39) V748A probably benign Het
Ccdc168 C T 1: 44,100,087 (GRCm39) G337D probably damaging Het
Ccdc180 T C 4: 45,916,375 (GRCm39) S859P probably benign Het
Ccne2 T C 4: 11,192,707 (GRCm39) S2P probably damaging Het
Cdc42bpg T A 19: 6,364,051 (GRCm39) I541N probably benign Het
Cgnl1 T A 9: 71,633,177 (GRCm39) N58I probably damaging Het
Chd7 T C 4: 8,822,402 (GRCm39) S832P possibly damaging Het
Chl1 A T 6: 103,652,038 (GRCm39) Y318F possibly damaging Het
Coq2 G T 5: 100,805,813 (GRCm39) N274K probably benign Het
Dgkg G C 16: 22,419,291 (GRCm39) P70A probably damaging Het
Dync2h1 T C 9: 7,147,731 (GRCm39) I966M probably benign Het
Eif5b C G 1: 38,061,248 (GRCm39) R380G unknown Het
Fat4 T A 3: 38,945,541 (GRCm39) I1478N probably damaging Het
Impact A T 18: 13,109,581 (GRCm39) I92L probably benign Het
Ly6c2 A G 15: 74,983,445 (GRCm39) probably null Het
Lypd6b G A 2: 49,837,468 (GRCm39) V147I possibly damaging Het
Mdga2 T C 12: 66,769,894 (GRCm39) D192G probably damaging Het
Mms22l T C 4: 24,586,344 (GRCm39) probably null Het
Myo9a C T 9: 59,739,484 (GRCm39) T732I possibly damaging Het
Myrf C T 19: 10,200,850 (GRCm39) M274I probably benign Het
Nfx1 G A 4: 41,003,057 (GRCm39) R686Q probably damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Oog4 T C 4: 143,164,581 (GRCm39) T245A possibly damaging Het
Or1a1b C T 11: 74,097,608 (GRCm39) V145I probably benign Het
Or52e3 A T 7: 102,869,625 (GRCm39) E233D probably benign Het
Pclo A T 5: 14,590,069 (GRCm39) K790* probably null Het
Pcm1 A G 8: 41,774,937 (GRCm39) E1668G probably damaging Het
Pkhd1l1 T A 15: 44,455,360 (GRCm39) N4040K probably damaging Het
Podnl1 T A 8: 84,855,905 (GRCm39) S222T probably benign Het
Ppil4 A G 10: 7,675,396 (GRCm39) T182A possibly damaging Het
Prdm13 T C 4: 21,678,544 (GRCm39) K649E probably damaging Het
Prob1 A T 18: 35,786,663 (GRCm39) H530Q probably benign Het
Rbbp4 A T 4: 129,211,442 (GRCm39) M404K probably damaging Het
Rilpl1 A T 5: 124,631,900 (GRCm39) F149I probably damaging Het
Sema6c T A 3: 95,078,527 (GRCm39) S543T probably benign Het
Sh3rf3 G T 10: 58,842,904 (GRCm39) W290L probably damaging Het
Slc2a12 T G 10: 22,541,350 (GRCm39) S402A probably benign Het
Tas2r131 T A 6: 132,934,030 (GRCm39) I260F possibly damaging Het
Tasp1 A G 2: 139,850,684 (GRCm39) I113T possibly damaging Het
Tnrc18 G A 5: 142,759,614 (GRCm39) R741* probably null Het
Ube2o G T 11: 116,437,290 (GRCm39) D244E probably damaging Het
Vmn1r206 A T 13: 22,804,784 (GRCm39) M141K probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp747 A G 7: 126,973,760 (GRCm39) S137P probably benign Het
Zfp951 A T 5: 104,963,151 (GRCm39) H138Q possibly 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
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
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'- CAGAGCTGTACTTGAGCGTTGGTC -3'
(R):5'- TGTTTGGAACCCTGCCCTTGAGTC -3'

Sequencing Primer
(F):5'- TCCTTGGCCTCAAGATGAAG -3'
(R):5'- GAGTCTCAAAGTTCAAGGTTCCG -3'
Posted On 2014-01-05