Incidental Mutation 'R5719:Crhr2'
ID 451344
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 043339-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R5719 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 55067034-55110001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55080207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 144 (H144R)
Ref Sequence ENSEMBL: ENSMUSP00000148408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003568] [ENSMUST00000095898] [ENSMUST00000114374] [ENSMUST00000164012] [ENSMUST00000213026] [ENSMUST00000212633]
AlphaFold Q60748
Predicted Effect probably damaging
Transcript: ENSMUST00000003568
AA Change: H143R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: H143R

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: H123R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: H123R

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: H144R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: H144R

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 noncoding transcript
Transcript: ENSMUST00000204117
Predicted Effect probably damaging
Transcript: ENSMUST00000213026
AA Change: H124R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212633
AA Change: H144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4257 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (79/81)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130051J06Rik C T 15: 95,688,641 (GRCm39) probably benign Het
A630001G21Rik T A 1: 85,651,106 (GRCm39) R110W probably benign Het
Abca4 T C 3: 121,928,915 (GRCm39) probably null Het
Abcc3 T C 11: 94,241,894 (GRCm39) N1379S probably damaging Het
Actrt3 A C 3: 30,652,276 (GRCm39) F273V probably benign Het
Adam22 T C 5: 8,417,217 (GRCm39) D75G probably benign Het
Ash1l C A 3: 88,961,805 (GRCm39) D2392E possibly damaging Het
Ash1l T C 3: 88,965,933 (GRCm39) I2445T probably damaging Het
Bltp2 T A 11: 78,164,071 (GRCm39) H1137Q probably damaging Het
Cacna2d2 A G 9: 107,401,851 (GRCm39) I762V probably benign Het
Ccdc127 T A 13: 74,505,187 (GRCm39) probably benign Het
Ccdc91 C G 6: 147,477,001 (GRCm39) L230V unknown Het
Cdk13 A G 13: 17,894,240 (GRCm39) I1129T probably damaging Het
Cnot1 C T 8: 96,470,924 (GRCm39) R1308H possibly damaging Het
Dnmt1 T C 9: 20,823,891 (GRCm39) N993S possibly damaging Het
Eif4g1 T A 16: 20,507,761 (GRCm39) V1182D probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fam234a T A 17: 26,433,627 (GRCm39) Q399L possibly damaging Het
Fyb1 A T 15: 6,610,350 (GRCm39) K308* probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm10309 A T 17: 86,806,421 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm5501 G A 18: 9,917,417 (GRCm39) noncoding transcript Het
Gm6309 A T 5: 146,104,992 (GRCm39) V307D probably benign Het
Gm9871 T A 6: 101,773,148 (GRCm39) noncoding transcript Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Herc3 T A 6: 58,871,528 (GRCm39) V70E possibly damaging Het
Hes7 A G 11: 69,012,415 (GRCm39) E41G probably damaging Het
Ifi27l2b T C 12: 103,422,046 (GRCm39) D106G unknown Het
Igfbp6 A T 15: 102,056,616 (GRCm39) Y184F probably damaging Het
Isyna1 A G 8: 71,047,352 (GRCm39) Y25C probably damaging Het
Kcng3 G T 17: 83,938,563 (GRCm39) T162K possibly damaging Het
Krt36 T C 11: 99,994,987 (GRCm39) D195G possibly damaging Het
Lrwd1 A T 5: 136,161,093 (GRCm39) probably null Het
Lsg1 C T 16: 30,380,593 (GRCm39) A615T probably benign Het
Myo5a A T 9: 75,059,213 (GRCm39) E480D probably damaging Het
Myrf T A 19: 10,194,087 (GRCm39) D690V probably damaging Het
N4bp1 T C 8: 87,578,312 (GRCm39) I684M probably damaging Het
Nlrc3 C T 16: 3,781,589 (GRCm39) A607T probably damaging Het
Nuak1 A T 10: 84,245,584 (GRCm39) I87N probably damaging Het
Odad2 G T 18: 7,211,496 (GRCm39) Q793K probably benign Het
Or5p66 T G 7: 107,885,599 (GRCm39) T245P probably damaging Het
Or5w11 T C 2: 87,459,475 (GRCm39) probably null Het
Or8b4 A T 9: 37,830,647 (GRCm39) E236D probably damaging Het
Osbpl9 T A 4: 108,919,763 (GRCm39) R689* probably null Het
Ppargc1b T A 18: 61,440,639 (GRCm39) M744L probably benign Het
Prss40 A T 1: 34,591,598 (GRCm39) probably benign Het
Ptprd T A 4: 75,972,839 (GRCm39) probably null Het
Rft1 T C 14: 30,385,183 (GRCm39) probably benign Het
Rftn2 C T 1: 55,253,445 (GRCm39) V53I probably damaging Het
Rnaset2a T C 17: 8,350,879 (GRCm39) Y167C probably damaging Het
Schip1 T C 3: 68,315,560 (GRCm39) probably benign Het
Scn5a A C 9: 119,359,118 (GRCm39) L643R possibly damaging Het
Shroom3 T A 5: 93,090,877 (GRCm39) M1128K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc14a2 A G 18: 78,252,257 (GRCm39) L18P probably benign Het
Slc22a3 C T 17: 12,642,691 (GRCm39) V509M probably damaging Het
Slc7a5 A C 8: 122,610,381 (GRCm39) F478V probably benign Het
Smc1b T A 15: 84,980,859 (GRCm39) N803I probably benign Het
Snf8 T A 11: 95,932,551 (GRCm39) N115K probably damaging Het
Stox2 T A 8: 47,866,172 (GRCm39) K57* probably null Het
Tmem248 T A 5: 130,258,429 (GRCm39) F41I probably damaging Het
Tmprss7 T C 16: 45,506,793 (GRCm39) S90G probably damaging Het
Top3b T C 16: 16,703,700 (GRCm39) V285A probably damaging Het
Tsen15 T C 1: 152,247,534 (GRCm39) T153A probably damaging Het
Usp34 T G 11: 23,304,846 (GRCm39) S360A probably benign Het
Wdr24 T C 17: 26,047,314 (GRCm39) probably null Het
Zbtb2 G A 10: 4,319,456 (GRCm39) T190I probably benign Het
Zranb3 T C 1: 127,891,613 (GRCm39) S788G 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
R5718:Crhr2 UTSW 6 55,069,085 (GRCm39) nonsense probably null
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'- CTGAACCAGAGCCTAAGGAC -3'
(R):5'- GAAGATCTAGGTGCCTGAGGATAC -3'

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