Mutagenetix > Incidental Mutations

Incidental Mutation 'R6144:Cfhr2'

488716

Institutional Source

Beutler Lab

Gene Symbol

Cfhr2

Ensembl Gene

ENSMUSG00000033898

Gene Name

complement factor H-related 2

Synonyms

MMRRC Submission

044291-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139804167-139858702 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 139805415 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092065 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094489

SMART Domains

Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898

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

unknown
Transcript: ENSMUST00000194186
AA Change: I289L

SMART Domains

Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: I289L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,344,644	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,689,533	R246H	probably damaging	Het
Agbl1	A	G	7: 76,420,084	T203A	probably benign	Het
Alms1	T	A	6: 85,623,074	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,762,657		probably benign	Het
Arap3	C	A	18: 37,985,433	G814C	probably damaging	Het
Armc9	T	G	1: 86,244,579	I5S	probably benign	Het
Catsperg1	T	C	7: 29,210,695	T74A	probably damaging	Het
Ccpg1os	C	A	9: 72,979,988	C79F	probably damaging	Het
Cdca7l	T	A	12: 117,873,711		probably null	Het
Chpt1	A	G	10: 88,453,093		probably benign	Het
Cntrl	A	C	2: 35,165,733	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,974,080	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,083	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,306,886		probably null	Het
Creb3l1	T	C	2: 91,992,005	H212R	possibly damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,321,609	D254G	possibly damaging	Het
Ddx58	T	C	4: 40,229,551	I78V	probably benign	Het
Dennd1b	A	G	1: 139,081,255	H232R	probably damaging	Het
Dhx29	T	C	13: 112,964,571	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,396,419	I307T	possibly damaging	Het
Ep300	A	G	15: 81,601,234	S141G	unknown	Het
Evl	A	C	12: 108,653,031	K101T	probably damaging	Het
Exph5	G	A	9: 53,373,028	G470R	probably benign	Het
Fam126a	T	C	5: 23,966,369	S352G	possibly damaging	Het
Flg	A	T	3: 93,283,208		probably benign	Het
Gm45704	T	A	8: 72,784,292			Het
Grm1	T	C	10: 11,079,896	M215V	probably benign	Het
Hadha	T	C	5: 30,140,996	D210G	probably benign	Het
Hmcn1	T	C	1: 150,722,424	Y1709C	probably damaging	Het
Hrc	A	T	7: 45,336,733	H436L	possibly damaging	Het
Ido1	T	A	8: 24,585,290	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,223,482	R222L	probably benign	Het
Khnyn	T	C	14: 55,887,839	V485A	probably damaging	Het
Kifc5b	T	C	17: 26,921,852	V100A	probably benign	Het
Lsm10	T	C	4: 126,098,001	M50T	probably damaging	Het
Map3k6	T	G	4: 133,245,675	W382G	probably damaging	Het
Mink1	T	A	11: 70,610,652	F922I	possibly damaging	Het
Mpp5	T	C	12: 78,824,789	V381A	possibly damaging	Het
Mrap2	T	C	9: 87,175,818	V53A	probably damaging	Het
Mrps7	C	A	11: 115,604,174	A5E	probably benign	Het
Muc4	A	G	16: 32,766,924	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,812,386	S249P	probably damaging	Het
Neil3	T	C	8: 53,599,412	T384A	probably benign	Het
Noc3l	A	T	19: 38,798,955	I504K	probably damaging	Het
Nudt13	A	G	14: 20,307,771	N107S	probably benign	Het
Olfr134	T	A	17: 38,175,225	L47H	probably damaging	Het
Olfr368	T	A	2: 37,332,113	M122K	probably damaging	Het
Olfr747	C	A	14: 50,680,935	R233L	probably benign	Het
Otub1	G	T	19: 7,199,153	Y205*	probably null	Het
Plpp7	T	A	2: 32,096,088	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011	Y188D	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpap1	A	T	2: 119,772,647	C602*	probably null	Het
Sbds	T	C	5: 130,246,344	K248E	probably benign	Het
Serpina10	A	T	12: 103,628,833	N42K	probably benign	Het
Slc7a8	A	G	14: 54,729,340	L368P	probably damaging	Het
Srrm1	T	C	4: 135,337,873		probably benign	Het
Sun2	C	T	15: 79,730,332	V288I	probably benign	Het
Tas2r107	C	A	6: 131,660,003	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,146,328	I268T	probably benign	Het
Tjp2	A	G	19: 24,120,073	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,879,141		probably null	Het
Trdv2-2	A	T	14: 53,961,304	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,673,100	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,843,166	T582A	probably benign	Het
Zfp788	T	C	7: 41,649,769	S558P	probably damaging	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
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	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
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

Predicted Primers

PCR Primer
(F):5'- TTTTCCAGCCACACAGCTCA -3'
(R):5'- ACTCAATGGGCCTGTGTCA -3'

Sequencing Primer
(F):5'- CTCAGTCTCTGAAAGTGAGGCTAGC -3'
(R):5'- CTCAATGGGCCTGTGTCAATAATC -3'

Posted On

2017-10-10