Mutagenetix > Incidental Mutation

Incidental Mutation 'R6467:Cd55'

516617

Institutional Source

Beutler Lab

Gene Symbol

Cd55

Ensembl Gene

ENSMUSG00000026399

Gene Name

CD55 molecule, decay accelerating factor for complement

Synonyms

Daf-GPI, GPI-DAF, Cromer blood group, Daf1, complement-glycosylphosphatidylinositol

MMRRC Submission

044600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130366764-130390481 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 130375348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027650]

AlphaFold

Q61475

Predicted Effect

probably benign
Transcript: ENSMUST00000027650

SMART Domains

Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
CCP	36	94	2.21e-12	SMART
CCP	98	158	3.56e-7	SMART
CCP	163	220	6.34e-13	SMART
CCP	225	284	1.28e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122830

Predicted Effect

unknown
Transcript: ENSMUST00000140400
AA Change: F96L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140725

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. The encoded preproprotein undergoes post-translational processing to generate a mature polypeptide anchored to the plasma membrane via a glycosylphosphatidylinositol moiety. Erythrocytes from mice deficient in the encoded protein exhibit impaired regulation of complement activation resulting in enhanced complement deposition. Mice lacking the encoded protein exhibit enhanced susceptibility to experimentally induced myasthenia gravis. This gene is located adjacent to a closely related gene on chromosome 1. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutant mice show increased susceptibility to injury following ethanol exposure, to experimental autoimmune myasthenia gravis and to acute nephrotoxic nephritis. Another allele results in an abnormal complement cascade leading to increased C3 deposition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	C	15: 101,092,722 (GRCm39)	W122R	possibly damaging	Het
Adgrv1	C	T	13: 81,592,657 (GRCm39)	R4294H	probably benign	Het
Afdn	A	G	17: 14,024,315 (GRCm39)	T74A	probably damaging	Het
Aff3	T	A	1: 38,247,098 (GRCm39)	D829V	probably benign	Het
Akr1c12	T	C	13: 4,325,772 (GRCm39)	Q107R	probably benign	Het
Apc	T	A	18: 34,402,252 (GRCm39)	F131I	probably benign	Het
Atosb	A	T	4: 43,033,687 (GRCm39)	F489I	probably damaging	Het
Atp13a1	T	A	8: 70,259,424 (GRCm39)	L1036H	probably damaging	Het
BC035044	A	C	6: 128,867,855 (GRCm39)		probably benign	Het
C1rl	A	G	6: 124,485,535 (GRCm39)	D302G	probably benign	Het
C2cd6	A	C	1: 59,117,093 (GRCm39)	D133E	probably benign	Het
Cacna1c	T	A	6: 118,629,671 (GRCm39)	Y1061F	probably damaging	Het
Cav1	A	G	6: 17,308,034 (GRCm39)	D62G	probably damaging	Het
Ccdc77	T	C	6: 120,327,242 (GRCm39)	M68V	probably damaging	Het
Cdc27	C	A	11: 104,413,602 (GRCm39)	A380S	probably damaging	Het
Cenpb	A	T	2: 131,021,477 (GRCm39)	I107K	probably damaging	Het
Cep135	T	G	5: 76,769,187 (GRCm39)	H612Q	possibly damaging	Het
Chd1l	A	T	3: 97,470,849 (GRCm39)	N815K	probably damaging	Het
Cldn20	C	T	17: 3,582,992 (GRCm39)	T55M	possibly damaging	Het
Depdc1a	A	T	3: 159,221,679 (GRCm39)	I208L	probably benign	Het
Dgkb	C	T	12: 38,134,223 (GRCm39)	A43V	possibly damaging	Het
Dgkb	C	T	12: 38,654,104 (GRCm39)	T741I	probably damaging	Het
Dhx16	A	G	17: 36,197,076 (GRCm39)	N653S	probably damaging	Het
Dnah5	T	A	15: 28,438,329 (GRCm39)	S3987T	probably benign	Het
Dnai4	T	C	4: 102,906,758 (GRCm39)	D685G	probably damaging	Het
Dst	T	A	1: 34,334,277 (GRCm39)	I4835N	probably damaging	Het
Esrrb	A	G	12: 86,561,114 (GRCm39)	I288V	probably damaging	Het
Fnta	C	T	8: 26,497,341 (GRCm39)	W169*	probably null	Het
Golga4	T	C	9: 118,365,860 (GRCm39)	L304P	probably damaging	Het
Hace1	A	G	10: 45,466,362 (GRCm39)		probably null	Het
Ino80b	G	T	6: 83,101,112 (GRCm39)		probably null	Het
Kcmf1	G	A	6: 72,820,082 (GRCm39)	R306C	probably damaging	Het
Lrrc46	G	A	11: 96,927,305 (GRCm39)	T92I	possibly damaging	Het
Man2b1	T	C	8: 85,824,076 (GRCm39)	V991A	possibly damaging	Het
Mga	A	G	2: 119,776,776 (GRCm39)	N1770S	probably damaging	Het
Mgat4e	T	C	1: 134,468,944 (GRCm39)	T367A	probably benign	Het
Mtr	A	G	13: 12,202,992 (GRCm39)	S1204P	probably damaging	Het
Myo15a	G	A	11: 60,417,487 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,560,585 (GRCm39)	S74P	probably damaging	Het
Noct	T	C	3: 51,157,508 (GRCm39)	V282A	possibly damaging	Het
Nol11	A	T	11: 107,071,912 (GRCm39)	I227K	possibly damaging	Het
Nsd3	T	A	8: 26,130,646 (GRCm39)	S4T	probably damaging	Het
Or5m10b	T	A	2: 85,699,714 (GRCm39)	Y259*	probably null	Het
Or5p64	A	G	7: 107,855,109 (GRCm39)	S79P	probably damaging	Het
Pds5a	T	A	5: 65,809,782 (GRCm39)	L393F	probably damaging	Het
Prex2	C	T	1: 11,336,259 (GRCm39)	R1486C	probably damaging	Het
Rc3h2	T	C	2: 37,272,028 (GRCm39)	T768A	probably damaging	Het
Rin3	A	T	12: 102,335,584 (GRCm39)	E418D	probably benign	Het
Rnf214	G	T	9: 45,778,886 (GRCm39)	T586N	probably damaging	Het
Samd4b	A	G	7: 28,101,285 (GRCm39)	S667P	probably damaging	Het
Sec14l2	T	C	11: 4,061,161 (GRCm39)	Y100C	probably damaging	Het
Slc46a2	T	C	4: 59,914,077 (GRCm39)	E282G	probably benign	Het
Themis	A	C	10: 28,657,762 (GRCm39)	N110T	possibly damaging	Het
Tln1	C	A	4: 43,543,165 (GRCm39)	S1333I	probably benign	Het
Tmem53	T	C	4: 117,125,625 (GRCm39)	V224A	possibly damaging	Het
Tmtc4	T	A	14: 123,163,391 (GRCm39)	K664N	possibly damaging	Het
Tnni3k	T	C	3: 154,674,922 (GRCm39)	D201G	probably damaging	Het
Tnxb	A	G	17: 34,912,898 (GRCm39)	E1681G	probably damaging	Het
Trhde	A	T	10: 114,340,103 (GRCm39)	D567E	probably damaging	Het
Tsc2	T	C	17: 24,828,101 (GRCm39)	M788V	probably benign	Het
Ube3a	A	G	7: 58,926,650 (GRCm39)	Y476C	probably damaging	Het
Ubiad1	T	C	4: 148,520,682 (GRCm39)	N314S	possibly damaging	Het
Unc79	T	A	12: 103,139,771 (GRCm39)	N2375K	probably damaging	Het
Vmn2r107	A	T	17: 20,595,939 (GRCm39)	I831F	probably damaging	Het
Vwa3b	T	A	1: 37,124,367 (GRCm39)	C322S	probably benign	Het
Wnk1	A	T	6: 119,939,916 (GRCm39)	H238Q	probably benign	Het
Wnk2	A	G	13: 49,300,081 (GRCm39)	Y210H	probably damaging	Het
Wwc2	T	C	8: 48,304,943 (GRCm39)	D894G	unknown	Het
Yes1	T	A	5: 32,810,381 (GRCm39)	F180Y	probably damaging	Het
Yju2b	T	C	8: 84,985,318 (GRCm39)	E317G	probably benign	Het
Zbtb46	T	C	2: 181,033,062 (GRCm39)	Y533C	probably damaging	Het
Zfp57	T	C	17: 37,316,942 (GRCm39)	S7P	possibly damaging	Het
Zzef1	T	C	11: 72,802,090 (GRCm39)		probably null	Het

Other mutations in Cd55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Cd55	APN	1	130,380,248 (GRCm39)	nonsense	probably null
IGL02207:Cd55	APN	1	130,380,156 (GRCm39)	missense	possibly damaging	0.46
IGL02724:Cd55	APN	1	130,377,149 (GRCm39)	splice site	probably benign
IGL02933:Cd55	APN	1	130,380,261 (GRCm39)	missense	probably damaging	1.00
IGL02955:Cd55	APN	1	130,377,219 (GRCm39)	missense	probably damaging	0.98
IGL03198:Cd55	APN	1	130,368,108 (GRCm39)	missense	probably benign	0.03
PIT4618001:Cd55	UTSW	1	130,384,606 (GRCm39)	missense	probably benign
R0055:Cd55	UTSW	1	130,387,313 (GRCm39)	splice site	probably benign
R0411:Cd55	UTSW	1	130,390,294 (GRCm39)	splice site	probably benign
R0426:Cd55	UTSW	1	130,376,109 (GRCm39)	missense	probably benign	0.07
R1488:Cd55	UTSW	1	130,376,115 (GRCm39)	missense	probably damaging	0.98
R1728:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1728:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1729:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1729:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1730:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1730:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1739:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1739:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1762:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1762:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1783:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1783:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1784:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1784:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1785:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1785:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1835:Cd55	UTSW	1	130,375,346 (GRCm39)	splice site	probably benign
R2049:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R2122:Cd55	UTSW	1	130,387,354 (GRCm39)	missense	possibly damaging	0.94
R2141:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R2142:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R2935:Cd55	UTSW	1	130,380,163 (GRCm39)	missense	possibly damaging	0.65
R4326:Cd55	UTSW	1	130,380,220 (GRCm39)	missense	probably damaging	1.00
R4328:Cd55	UTSW	1	130,380,220 (GRCm39)	missense	probably damaging	1.00
R4328:Cd55	UTSW	1	130,375,104 (GRCm39)	intron	probably benign
R4329:Cd55	UTSW	1	130,380,220 (GRCm39)	missense	probably damaging	1.00
R5051:Cd55	UTSW	1	130,376,085 (GRCm39)	missense	probably damaging	0.99
R7219:Cd55	UTSW	1	130,390,343 (GRCm39)	missense	possibly damaging	0.73
R8010:Cd55	UTSW	1	130,387,353 (GRCm39)	missense	probably benign	0.00
R8695:Cd55	UTSW	1	130,380,273 (GRCm39)	missense	probably benign	0.00
R8882:Cd55	UTSW	1	130,387,501 (GRCm39)	missense	probably benign	0.02
R9369:Cd55	UTSW	1	130,375,187 (GRCm39)	nonsense	probably null
R9411:Cd55	UTSW	1	130,368,114 (GRCm39)	missense	probably benign	0.03
Z1088:Cd55	UTSW	1	130,380,216 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGTGTCCACAAAACAAGCG -3'
(R):5'- CTATCCTGCAGAACTTATTAGTGC -3'

Sequencing Primer
(F):5'- CAAGCGGATTAAAGGGATTTACC -3'
(R):5'- AGAACTTATTAGTGCTTATGTTGCTG -3'

Posted On

2018-05-21