Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Cfhr2'

283760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfhr2

Ensembl Gene

ENSMUSG00000033898

Gene Name

complement factor H-related 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

139804167-139858702 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139821759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 162 (Y162H)

Ref Sequence

ENSEMBL: ENSMUSP00000142033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094489] [ENSMUST00000194186]

AlphaFold

A0A668KLU9

Predicted Effect

probably benign
Transcript: ENSMUST00000094489
AA Change: Y162H

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: Y162H

Domain	Start	End	E-Value	Type
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: Y162H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: Y162H

Domain	Start	End	E-Value	Type
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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,230	K57E	probably damaging	Het
9930111J21Rik1	A	T	11: 48,947,421	Y780N	probably benign	Het
Aadacl2	T	C	3: 60,025,188	S375P	probably damaging	Het
Abi1	A	C	2: 23,040,064	M1R	probably null	Het
Acss1	T	C	2: 150,629,868	D322G	probably damaging	Het
Adam22	G	A	5: 8,330,029	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,500,461	H515R	probably benign	Het
BC003331	G	T	1: 150,372,033	N356K	possibly damaging	Het
C3	T	C	17: 57,220,113	K779E	probably benign	Het
Chchd5	T	C	2: 129,133,268		probably benign	Het
Csmd1	T	A	8: 16,271,606	I493F	probably damaging	Het
Daam1	A	T	12: 71,946,285	R349S	unknown	Het
Dnah11	T	C	12: 118,082,579	E1708G	probably benign	Het
Epg5	A	G	18: 78,012,870	D1753G	probably damaging	Het
Flt4	T	G	11: 49,626,003	C206G	probably damaging	Het
Fscn1	G	T	5: 142,960,620	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,728,544	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121	S70T	possibly damaging	Het
H2-K1	A	G	17: 33,999,492	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,742,138	I290L	probably benign	Het
Iws1	A	G	18: 32,093,125	R689G	probably damaging	Het
Klk1b22	A	G	7: 44,116,206		probably null	Het
Klra4	T	A	6: 130,044,142	D230V	possibly damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Lilra5	A	T	7: 4,237,969	M21L	probably benign	Het
Lrrc20	T	A	10: 61,527,108	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,209,317	M426L	probably damaging	Het
Mylk2	C	T	2: 152,915,154	P283L	probably damaging	Het
Mynn	T	A	3: 30,613,544		probably benign	Het
Olfr1231	A	C	2: 89,303,297	C98W	probably damaging	Het
Parl	T	A	16: 20,297,703	I116F	probably damaging	Het
Pdlim3	T	C	8: 45,885,593	V5A	probably damaging	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Ptprf	T	A	4: 118,213,642		probably benign	Het
Ptprn	A	G	1: 75,258,495	S170P	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Rps27a	C	A	11: 29,546,772	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,754,838		probably benign	Het
Scube3	G	T	17: 28,162,996	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,345,339		probably null	Het
Sh3tc2	A	G	18: 61,990,622	E818G	probably benign	Het
Slc16a3	G	A	11: 120,956,771	V262I	probably benign	Het
Sptbn1	T	A	11: 30,117,871	D1781V	probably damaging	Het
Ssr1	C	T	13: 37,987,516		probably null	Het
Tep1	A	G	14: 50,826,826	L2442S	probably benign	Het
Tonsl	A	T	15: 76,623,178	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,639,157	H468L	probably benign	Het
Ttc27	C	T	17: 74,729,899	T189M	probably damaging	Het
Ttn	T	C	2: 76,890,156		probably benign	Het
Ttn	T	G	2: 76,759,895	I21157L	probably damaging	Het
Vav3	T	A	3: 109,525,960		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Cfhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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	splice site	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
R8322:Cfhr2	UTSW	1	139810958	missense	probably benign
R8498:Cfhr2	UTSW	1	139813481	missense	possibly damaging	0.81
R8735:Cfhr2	UTSW	1	139858605	missense	probably damaging	0.99
R8942:Cfhr2	UTSW	1	139813554	missense	probably benign	0.02
R9642:Cfhr2	UTSW	1	139810882	missense	probably damaging	0.98

Posted On

2015-04-16