Incidental Mutation 'R6370:Cfhr2'
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ID513448
Institutional Source Beutler Lab
Gene Symbol Cfhr2
Ensembl Gene ENSMUSG00000033898
Gene Namecomplement factor H-related 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #R6370 (G1)
Quality Score150.008
Status Not validated
Chromosome1
Chromosomal Location139804167-139858702 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 139822327 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 96 (L96Q)
Ref Sequence ENSEMBL: ENSMUSP00000142033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094489] [ENSMUST00000194186]
Predicted Effect probably damaging
Transcript: ENSMUST00000094489
AA Change: L96Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: L96Q

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 damaging
Transcript: ENSMUST00000194186
AA Change: L96Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: L96Q

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb6 A G 2: 30,827,012 V67A probably damaging Het
Atic T A 1: 71,578,660 F590I probably damaging Het
Atxn10 T C 15: 85,393,385 F351S probably damaging Het
Bcl2l13 A G 6: 120,865,622 N92S probably benign Het
Carm1 G T 9: 21,587,519 A518S probably benign Het
Ccar1 C T 10: 62,764,529 R541H probably damaging Het
Chrnb4 A G 9: 55,034,859 L377S probably benign Het
Clcn3 A G 8: 60,923,024 Y639H probably damaging Het
Cngb1 C T 8: 95,264,422 M717I probably benign Het
Ctcf T C 8: 105,664,220 M153T probably benign Het
Cyp2b19 T C 7: 26,763,358 S222P probably benign Het
Dixdc1 A T 9: 50,682,223 probably null Het
Entpd2 G A 2: 25,397,417 G47S probably damaging Het
Erbb3 A G 10: 128,570,074 M1158T possibly damaging Het
Faah T C 4: 116,003,056 D333G probably damaging Het
Foxred2 T A 15: 77,943,306 T618S probably benign Het
Gm2381 G A 7: 42,820,586 A38V probably benign Het
Gpx5 A T 13: 21,288,702 probably null Het
Gtdc1 A G 2: 44,756,322 V98A probably damaging Het
Hal T C 10: 93,497,506 I312T probably damaging Het
Krtap21-1 T C 16: 89,403,631 Y41C unknown Het
Larp6 A G 9: 60,737,363 E262G probably damaging Het
Lrrn1 A G 6: 107,569,224 Y661C probably damaging Het
Lsm14a A G 7: 34,357,481 V244A probably benign Het
Marc1 T C 1: 184,795,492 D257G probably damaging Het
Mfrp T C 9: 44,106,261 C517R probably damaging Het
Ncoa3 T C 2: 166,065,905 S1145P probably benign Het
Nosip G T 7: 45,076,740 probably null Het
Olfr1186 T A 2: 88,499,368 C94* probably null Het
Olfr568 A T 7: 102,877,170 T17S probably benign Het
Olfr664 T C 7: 104,733,917 K149R probably benign Het
Phykpl T C 11: 51,586,716 S112P probably damaging Het
Pik3cb A T 9: 99,040,934 I1015K probably damaging Het
Pomt2 A G 12: 87,109,199 W818R probably damaging Het
Ptpn21 A T 12: 98,689,034 M558K possibly damaging Het
Rnf213 T A 11: 119,477,078 N4647K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,579,907 probably benign Homo
Rxrg T C 1: 167,634,437 V227A probably damaging Het
Satb1 A T 17: 51,782,797 S341T possibly damaging Het
Skint5 T G 4: 113,614,110 Q983P unknown Het
Slc6a18 G A 13: 73,668,159 T367I probably benign Het
Slc7a1 A G 5: 148,340,673 L344P probably damaging Het
Slc7a6 T A 8: 106,195,437 F399I probably benign Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Sugt1 T C 14: 79,610,334 V208A probably benign Het
Syt3 A G 7: 44,395,683 K480E probably damaging Het
Thop1 C T 10: 81,077,983 T186I probably benign Het
Trim55 G A 3: 19,691,486 E509K possibly damaging Het
Upf2 A G 2: 5,976,010 N469S unknown Het
Usp24 G T 4: 106,380,521 K1125N probably null Het
Usp5 A T 6: 124,820,428 D494E probably benign Het
Vmn2r51 T C 7: 10,098,216 K481R probably damaging Het
Vps16 C A 2: 130,443,384 A787D probably damaging Het
Washc4 C T 10: 83,571,362 H488Y possibly damaging Het
Wdfy4 C A 14: 33,068,850 A2053S probably benign Het
Zfp74 A T 7: 29,932,410 D136E probably damaging 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
IGL02160:Cfhr2 APN 1 139810926 missense probably benign
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
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
R8322:Cfhr2 UTSW 1 139810958 missense probably benign
Predicted Primers PCR Primer
(F):5'- GACATTGGCTTACTGACGCATG -3'
(R):5'- TAGGAGTATCAGCCCTAACTTGATTTC -3'

Sequencing Primer
(F):5'- CTTACTGACGCATGGGACTTCAG -3'
(R):5'- CCTCACAAACCAAAGTTTTCTATTG -3'
Posted On2018-04-27