Incidental Mutation 'R5225:Cfhr2'
ID 402534
Institutional Source Beutler Lab
Gene Symbol Cfhr2
Ensembl Gene ENSMUSG00000033898
Gene Name complement factor H-related 2
Synonyms FHR-B
MMRRC Submission 042798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5225 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 139738030-139786437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139749520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 154 (Y154F)
Ref Sequence ENSEMBL: ENSMUSP00000092065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094489] [ENSMUST00000194186]
AlphaFold A0A668KLU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000094489
AA Change: Y154F

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: Y154F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CCP 28 81 2.7e-7 SMART
CCP 86 146 6.35e-4 SMART
CCP 150 203 7.57e-11 SMART
CCP 212 266 3.7e-14 SMART
CCP 270 331 1.16e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194186
AA Change: Y154F

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: Y154F

DomainStartEndE-ValueType
CCP 28 81 2.7e-7 SMART
CCP 86 146 6.35e-4 SMART
CCP 150 203 7.57e-11 SMART
CCP 212 266 3.7e-14 SMART
Meta Mutation Damage Score 0.1192 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,226,839 (GRCm39) R465* probably null Het
Abcg3 A T 5: 105,114,649 (GRCm39) D289E probably damaging Het
Ablim2 G T 5: 36,024,115 (GRCm39) probably null Het
Acp1 A T 12: 30,955,078 (GRCm39) V36D probably benign Het
Adgrb1 T A 15: 74,449,348 (GRCm39) probably benign Het
Akap6 G A 12: 52,933,329 (GRCm39) V274I probably damaging Het
Arhgap39 T C 15: 76,609,715 (GRCm39) probably benign Het
Bmp1 G A 14: 70,717,605 (GRCm39) R789W probably damaging Het
Catspere2 A T 1: 177,976,474 (GRCm39) probably benign Het
Cilp2 T C 8: 70,336,015 (GRCm39) Y358C probably damaging Het
Cyp1a2 T A 9: 57,584,516 (GRCm39) K513* probably null Het
Dennd4a G T 9: 64,796,210 (GRCm39) K745N possibly damaging Het
Dlg1 T A 16: 31,655,085 (GRCm39) S542T probably benign Het
Dmbt1 A T 7: 130,696,465 (GRCm39) I893F possibly damaging Het
Dnhd1 A T 7: 105,353,130 (GRCm39) E2761V possibly damaging Het
F11 T C 8: 45,708,341 (GRCm39) T40A probably benign Het
Fam227a T C 15: 79,520,936 (GRCm39) D296G possibly damaging Het
Fance C T 17: 28,534,589 (GRCm39) probably benign Het
Gaa A G 11: 119,167,669 (GRCm39) D149G probably damaging Het
Gapt A G 13: 110,490,522 (GRCm39) M47T possibly damaging Het
Gm1110 T C 9: 26,813,774 (GRCm39) N202D probably damaging Het
Gm7535 T C 17: 18,131,809 (GRCm39) probably benign Het
Gm973 T A 1: 59,601,859 (GRCm39) M491K probably benign Het
Gmnc A G 16: 26,782,695 (GRCm39) V27A probably benign Het
Kif27 T C 13: 58,440,915 (GRCm39) T1167A possibly damaging Het
Klrg1 T A 6: 122,248,331 (GRCm39) *189C probably null Het
Lime1 T A 2: 181,024,640 (GRCm39) M98K probably benign Het
Lrp1 C A 10: 127,391,965 (GRCm39) A2867S probably benign Het
Lrrd1 G A 5: 3,908,735 (GRCm39) S669N probably benign Het
Mmel1 A G 4: 154,976,456 (GRCm39) N520S probably damaging Het
Mrpl48 A C 7: 100,198,535 (GRCm39) L206V probably damaging Het
Nagpa C T 16: 5,021,596 (GRCm39) A52T probably benign Het
Or1o3 A G 17: 37,573,919 (GRCm39) V212A probably benign Het
Or4c3 T G 2: 89,851,528 (GRCm39) D294A probably benign Het
Orai2 A G 5: 136,190,355 (GRCm39) S71P probably damaging Het
Pcbp1 A T 6: 86,502,209 (GRCm39) I230N probably damaging Het
Pcdh15 T C 10: 74,138,986 (GRCm39) L349P probably damaging Het
Pcdhb16 T C 18: 37,613,011 (GRCm39) V657A probably benign Het
Prdm15 G T 16: 97,609,875 (GRCm39) H590N probably damaging Het
Psg18 T C 7: 18,079,874 (GRCm39) I442M probably damaging Het
Pygm C A 19: 6,439,494 (GRCm39) D279E probably benign Het
Rrn3 T A 16: 13,610,798 (GRCm39) probably null Het
Sass6 T C 3: 116,407,702 (GRCm39) S273P possibly damaging Het
Schip1 A G 3: 68,402,270 (GRCm39) M116V probably benign Het
Sdc3 G A 4: 130,546,087 (GRCm39) V55I unknown Het
Serpinb8 T A 1: 107,525,201 (GRCm39) M1K probably null Het
Slc24a5 T C 2: 124,927,739 (GRCm39) I346T probably damaging Het
Slc35f3 T A 8: 127,117,846 (GRCm39) I335N probably damaging Het
Snapc2 T A 8: 4,305,299 (GRCm39) V147E probably damaging Het
Snx2 T C 18: 53,322,784 (GRCm39) S56P possibly damaging Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Stk19 A T 17: 35,040,400 (GRCm39) probably benign Het
Sulf1 A G 1: 12,911,702 (GRCm39) E692G probably benign Het
Tet1 C T 10: 62,674,450 (GRCm39) V1209I probably damaging Het
Tln1 T C 4: 43,539,406 (GRCm39) T1639A probably benign Het
Tmem135 G T 7: 88,845,335 (GRCm39) Y165* probably null Het
Tmprss6 T C 15: 78,336,707 (GRCm39) T398A probably damaging Het
Ube4a C T 9: 44,851,258 (GRCm39) probably null Het
Vmn1r227 T C 17: 20,955,499 (GRCm39) noncoding transcript Het
Wdhd1 T C 14: 47,488,273 (GRCm39) S745G probably benign Het
Xylt1 A G 7: 117,191,263 (GRCm39) H353R probably damaging Het
Zfp788 A G 7: 41,298,980 (GRCm39) T539A probably benign Het
Zfp866 A T 8: 70,218,091 (GRCm39) F510I possibly damaging Het
Other mutations in Cfhr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Cfhr2 APN 1 139,758,970 (GRCm39) missense probably benign 0.09
IGL01721:Cfhr2 APN 1 139,741,352 (GRCm39) missense probably benign 0.00
IGL02160:Cfhr2 APN 1 139,738,664 (GRCm39) missense probably benign
IGL02189:Cfhr2 APN 1 139,749,497 (GRCm39) missense probably damaging 0.98
IGL02802:Cfhr2 APN 1 139,738,762 (GRCm39) intron probably benign
PIT4677001:Cfhr2 UTSW 1 139,733,117 (GRCm39) missense unknown
R0470:Cfhr2 UTSW 1 139,749,517 (GRCm39) missense probably damaging 1.00
R0586:Cfhr2 UTSW 1 139,741,172 (GRCm39) nonsense probably null
R1401:Cfhr2 UTSW 1 139,738,757 (GRCm39) missense probably benign 0.00
R1728:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R1728:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1729:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R1729:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1730:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R1730:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1739:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R1739:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1762:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R1762:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1779:Cfhr2 UTSW 1 139,786,383 (GRCm39) splice site probably null
R1783:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R1783:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1784:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R1784:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1785:Cfhr2 UTSW 1 139,741,180 (GRCm39) missense probably benign 0.00
R1785:Cfhr2 UTSW 1 139,741,197 (GRCm39) missense probably benign 0.02
R2130:Cfhr2 UTSW 1 139,758,893 (GRCm39) missense probably benign 0.41
R2131:Cfhr2 UTSW 1 139,758,893 (GRCm39) missense probably benign 0.41
R2141:Cfhr2 UTSW 1 139,758,893 (GRCm39) missense probably benign 0.41
R2142:Cfhr2 UTSW 1 139,758,893 (GRCm39) missense probably benign 0.41
R4626:Cfhr2 UTSW 1 139,741,314 (GRCm39) missense probably damaging 1.00
R4938:Cfhr2 UTSW 1 139,741,265 (GRCm39) missense probably benign 0.02
R5578:Cfhr2 UTSW 1 139,758,806 (GRCm39) nonsense probably null
R6144:Cfhr2 UTSW 1 139,733,153 (GRCm39) unclassified probably benign
R6312:Cfhr2 UTSW 1 139,758,817 (GRCm39) missense possibly damaging 0.47
R6370:Cfhr2 UTSW 1 139,750,065 (GRCm39) missense probably damaging 1.00
R6587:Cfhr2 UTSW 1 139,738,596 (GRCm39) missense probably benign 0.01
R7028:Cfhr2 UTSW 1 139,758,801 (GRCm39) critical splice donor site probably null
R7051:Cfhr2 UTSW 1 139,738,716 (GRCm39) missense probably benign 0.00
R7162:Cfhr2 UTSW 1 139,741,264 (GRCm39) missense probably benign 0.08
R7166:Cfhr2 UTSW 1 139,758,839 (GRCm39) nonsense probably null
R7503:Cfhr2 UTSW 1 139,758,952 (GRCm39) missense probably damaging 0.99
R7752:Cfhr2 UTSW 1 139,741,322 (GRCm39) missense probably damaging 1.00
R8322:Cfhr2 UTSW 1 139,738,696 (GRCm39) missense probably benign
R8498:Cfhr2 UTSW 1 139,741,219 (GRCm39) missense possibly damaging 0.81
R8735:Cfhr2 UTSW 1 139,786,343 (GRCm39) missense probably damaging 0.99
R8942:Cfhr2 UTSW 1 139,741,292 (GRCm39) missense probably benign 0.02
R9642:Cfhr2 UTSW 1 139,738,620 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACTTGTGATGTAAGGGCAGG -3'
(R):5'- GGGACTATGGAAATGCCTTTATCTC -3'

Sequencing Primer
(F):5'- CAGGTTACTTACTGATACGGATGC -3'
(R):5'- GAATGCAATGCATGCTCA -3'
Posted On 2016-07-22