Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Cfhr2'

348751

Institutional Source

Beutler Lab

Gene Symbol

Cfhr2

Ensembl Gene

ENSMUSG00000033898

Gene Name

complement factor H-related 2

Synonyms

FHR-B

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139738030-139786437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139741314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 220 (N220K)

Ref Sequence

ENSEMBL: ENSMUSP00000092065 (fasta)

Gene Model

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

AlphaFold

A0A668KLU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000094489
AA Change: N220K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: N220K

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
AA Change: N220K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: N220K

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	probably damaging	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
IGL02160:Cfhr2	APN	1	139,738,664 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACATGCTAATGTTTTGCACTGGAG -3'
(R):5'- GAAGGAAGAACTTGCAACTCTG -3'

Sequencing Primer
(F):5'- TGTTTTGCACTGGAGAACAAAC -3'
(R):5'- GAAGAACTTGCAACTCTGTTTATATG -3'

Posted On

2015-10-08