Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Cfhr2'

282409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfhr2

Ensembl Gene

ENSMUSG00000033898

Gene Name

complement factor H-related 2

Synonyms

FHR-B

Accession Numbers

Essential gene?

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

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

139738030-139786437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139738664 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

A0A668KLU9

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

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 benign
Transcript: ENSMUST00000194186

SMART Domains

Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabp2	T	A	19: 4,134,868 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736 (GRCm39)	D213G	probably damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Ext2	A	T	2: 93,643,929 (GRCm39)	D117E	probably benign	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mkln1	A	G	6: 31,469,726 (GRCm39)		probably benign	Het
Mmp17	A	G	5: 129,672,633 (GRCm39)	D195G	possibly damaging	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Top6bl	T	C	19: 4,713,612 (GRCm39)	D276G	probably damaging	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,339,951 (GRCm39)	N261K	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	probably benign	Het

Other mutations in Cfhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5225:Cfhr2	UTSW	1	139,749,520 (GRCm39)	missense	possibly damaging	0.69
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

Posted On

2015-04-16