Incidental Mutation 'IGL02160:Cfhr2'
ID282409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfhr2
Ensembl Gene ENSMUSG00000033898
Gene Namecomplement factor H-related 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02160
Quality Score
Status
Chromosome1
Chromosomal Location139804167-139858702 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 139810926 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 299 (D299V)
Ref Sequence ENSEMBL: ENSMUSP00000092065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094489] [ENSMUST00000194186]
Predicted Effect probably benign
Transcript: ENSMUST00000094489
AA Change: D299V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: D299V

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 probably benign
Transcript: ENSMUST00000194186
SMART Domains Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A T 11: 29,823,593 Y621* probably null Het
Acat1 A G 9: 53,591,987 V184A probably benign Het
Adam19 G A 11: 46,139,695 C750Y probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabp2 T A 19: 4,084,868 probably benign Het
Carmil3 T C 14: 55,493,558 M94T possibly damaging Het
Ccdc107 A G 4: 43,495,736 D213G probably damaging Het
Cdh23 T C 10: 60,597,765 probably benign Het
Clcn7 T C 17: 25,149,030 probably benign Het
Clspn G A 4: 126,581,510 E1019K probably benign Het
Ctnna3 A G 10: 64,250,698 T350A probably benign Het
Dmbt1 G A 7: 131,082,688 G638E probably damaging Het
Ext2 A T 2: 93,813,584 D117E probably benign Het
Ffar4 T A 19: 38,097,455 V110D possibly damaging Het
Foxred2 G T 15: 77,955,650 Q147K probably benign Het
Gm960 T C 19: 4,663,584 D276G probably damaging Het
Heatr9 T C 11: 83,518,825 D107G probably benign Het
Hmgxb3 G A 18: 61,171,236 A94V probably damaging Het
Htr5b A T 1: 121,528,045 S49T possibly damaging Het
Il1rl1 A T 1: 40,461,837 M458L probably benign Het
Il23r A T 6: 67,423,578 N589K probably benign Het
Kbtbd11 G A 8: 15,028,801 V467M probably damaging Het
Kidins220 T A 12: 25,004,111 Y537N probably damaging Het
Kif27 T A 13: 58,325,998 E728D probably damaging Het
Lum T C 10: 97,568,581 S113P probably damaging Het
Mkln1 A G 6: 31,492,791 probably benign Het
Mmp17 A G 5: 129,595,569 D195G possibly damaging Het
Naa38 T A 11: 69,396,368 probably benign Het
Naalad2 G A 9: 18,379,937 A191V probably damaging Het
Naip6 A T 13: 100,299,425 H863Q probably benign Het
Ncoa6 A G 2: 155,421,083 V477A possibly damaging Het
Nipal3 G T 4: 135,474,417 Y153* probably null Het
Olfr1259 G T 2: 89,943,805 H103Q probably damaging Het
Olfr1279 G A 2: 111,306,798 V198I probably benign Het
Olfr1413 T A 1: 92,573,357 L62Q probably damaging Het
Olfr270 A G 4: 52,971,194 D191G probably damaging Het
Olfr982 A T 9: 40,075,186 N297I probably damaging Het
Pik3c2a G A 7: 116,388,064 P541S probably damaging Het
Ppargc1b A T 18: 61,310,435 D552E probably damaging Het
Ppfia3 C A 7: 45,360,051 probably benign Het
Prcp G A 7: 92,917,761 S227N probably benign Het
Ptprq T A 10: 107,653,565 T900S probably benign Het
Ralgapa2 G A 2: 146,348,440 probably benign Het
Rcsd1 A G 1: 165,657,579 S102P probably damaging Het
Rfwd3 T A 8: 111,273,075 N757I possibly damaging Het
Rnf217 A T 10: 31,505,771 probably null Het
Scn2a A G 2: 65,730,116 D1230G probably damaging Het
Sdc3 T C 4: 130,818,575 probably benign Het
Slc27a4 G T 2: 29,805,962 D170Y probably benign Het
Tcof1 A G 18: 60,848,743 probably benign Het
Ticam1 T A 17: 56,270,560 I512F possibly damaging Het
Ticrr T C 7: 79,694,019 C1211R probably benign Het
Tlr2 A T 3: 83,837,371 N468K possibly damaging Het
Tmod4 T C 3: 95,129,113 probably benign Het
Tnxb T C 17: 34,714,745 S2380P probably benign Het
Tox A G 4: 6,711,537 V309A probably damaging Het
Tpgs2 A G 18: 25,140,580 F175L possibly damaging Het
Trim43b A G 9: 89,091,630 S17P probably benign Het
Ttc21a G T 9: 119,956,923 L662F probably damaging Het
Ubqln1 A T 13: 58,192,137 N261K probably damaging Het
Umodl1 T C 17: 30,986,117 V562A probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vars T A 17: 35,001,502 I20N probably damaging Het
Vcan T C 13: 89,684,493 N3092D probably damaging Het
Wdr66 A T 5: 123,256,018 E323D unknown Het
Zc3h6 G T 2: 128,997,685 E139D probably benign Het
Other mutations in Cfhr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Cfhr2 APN 1 139831232 missense probably benign 0.09
IGL01721:Cfhr2 APN 1 139813614 missense probably benign 0.00
IGL02189:Cfhr2 APN 1 139821759 missense probably damaging 0.98
IGL02802:Cfhr2 APN 1 139811024 intron probably benign
PIT4677001:Cfhr2 UTSW 1 139805379 missense unknown
R0470:Cfhr2 UTSW 1 139821779 missense probably damaging 1.00
R0586:Cfhr2 UTSW 1 139813434 nonsense probably null
R1401:Cfhr2 UTSW 1 139811019 missense probably benign 0.00
R1728:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1728:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R1729:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1729:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R1730:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1730:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R1739:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1739:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R1762:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1762:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R1779:Cfhr2 UTSW 1 139858645 utr 5 prime probably null
R1783:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1783:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R1784:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1784:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R1785:Cfhr2 UTSW 1 139813442 missense probably benign 0.00
R1785:Cfhr2 UTSW 1 139813459 missense probably benign 0.02
R2130:Cfhr2 UTSW 1 139831155 missense probably benign 0.41
R2131:Cfhr2 UTSW 1 139831155 missense probably benign 0.41
R2141:Cfhr2 UTSW 1 139831155 missense probably benign 0.41
R2142:Cfhr2 UTSW 1 139831155 missense probably benign 0.41
R4626:Cfhr2 UTSW 1 139813576 missense probably damaging 1.00
R4938:Cfhr2 UTSW 1 139813527 missense probably benign 0.02
R5225:Cfhr2 UTSW 1 139821782 missense possibly damaging 0.69
R5578:Cfhr2 UTSW 1 139831068 nonsense probably null
R6144:Cfhr2 UTSW 1 139805415 unclassified probably benign
R6312:Cfhr2 UTSW 1 139831079 missense possibly damaging 0.47
R6370:Cfhr2 UTSW 1 139822327 missense probably damaging 1.00
R6587:Cfhr2 UTSW 1 139810858 missense probably benign 0.01
R7028:Cfhr2 UTSW 1 139831063 critical splice donor site probably null
R7051:Cfhr2 UTSW 1 139810978 missense probably benign 0.00
R7162:Cfhr2 UTSW 1 139813526 missense probably benign 0.08
R7166:Cfhr2 UTSW 1 139831101 nonsense probably null
R7503:Cfhr2 UTSW 1 139831214 missense probably damaging 0.99
R7752:Cfhr2 UTSW 1 139813584 missense probably damaging 1.00
Posted On2015-04-16