Mutagenetix > Incidental Mutation

Incidental Mutation 'R9369:Cd55'

709179

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130366764-130390481 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 130375187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 150 (L150*)

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

probably null
Transcript: ENSMUST00000140400
AA Change: L150*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
9330159F19Rik	T	A	10: 29,100,974 (GRCm39)	V449D	probably damaging	Het
Abca13	G	T	11: 9,328,444 (GRCm39)	V3506L	probably damaging	Het
Accs	G	A	2: 93,666,093 (GRCm39)	Q498*	probably null	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
C2cd2	T	C	16: 97,723,333 (GRCm39)	I61M	possibly damaging	Het
Cd22	T	C	7: 30,576,999 (GRCm39)	T103A	probably benign	Het
Ces3b	A	G	8: 105,813,502 (GRCm39)	S258G	probably damaging	Het
Cln6	A	G	9: 62,754,431 (GRCm39)	T158A	probably damaging	Het
Dnah7a	T	C	1: 53,543,421 (GRCm39)	K2250E	probably benign	Het
Dnah7a	T	A	1: 53,564,222 (GRCm39)	N1946Y	possibly damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ern1	A	T	11: 106,305,259 (GRCm39)	M377K	probably benign	Het
Esrrb	A	G	12: 86,517,102 (GRCm39)	D78G	probably damaging	Het
Fat2	A	T	11: 55,201,514 (GRCm39)	M520K	possibly damaging	Het
Foxb1	A	G	9: 69,666,930 (GRCm39)	L200P	probably damaging	Het
Gli2	G	T	1: 118,765,885 (GRCm39)	N755K	probably benign	Het
Gnal	A	G	18: 67,324,439 (GRCm39)		probably null	Het
Gxylt1	A	T	15: 93,172,896 (GRCm39)	F23I	possibly damaging	Het
Hsd17b13	T	A	5: 104,125,034 (GRCm39)	R50W	probably damaging	Het
Htr5b	G	C	1: 121,455,482 (GRCm39)	A146G	possibly damaging	Het
Ifi206	A	G	1: 173,301,489 (GRCm39)	F730L	unknown	Het
Ifrd2	C	T	9: 107,467,802 (GRCm39)	Q163*	probably null	Het
Ift88	A	T	14: 57,685,137 (GRCm39)	I318F	probably benign	Het
Ighv5-12	T	A	12: 113,665,985 (GRCm39)	K38*	probably null	Het
Il17rc	T	C	6: 113,449,641 (GRCm39)	S112P	probably benign	Het
Itgb7	T	C	15: 102,131,821 (GRCm39)	N254S	probably damaging	Het
Jak2	T	A	19: 29,266,203 (GRCm39)		probably null	Het
Jmjd8	A	T	17: 26,048,686 (GRCm39)	H100L	unknown	Het
Kcnh4	T	C	11: 100,648,428 (GRCm39)	E92G	probably damaging	Het
Kif13a	T	C	13: 46,940,099 (GRCm39)	I989V	probably damaging	Het
Kif5b	A	T	18: 6,223,584 (GRCm39)	N308K	probably damaging	Het
Loxl3	A	T	6: 83,027,393 (GRCm39)	T683S	probably benign	Het
Macf1	C	T	4: 123,349,150 (GRCm39)		probably null	Het
Met	A	G	6: 17,492,228 (GRCm39)	K330R	probably benign	Het
Mideas	A	G	12: 84,219,670 (GRCm39)	V428A	probably benign	Het
Mybl1	T	C	1: 9,742,829 (GRCm39)	E593G	probably damaging	Het
N4bp2	T	G	5: 65,964,259 (GRCm39)	D769E	probably damaging	Het
Or10ak13	T	A	4: 118,639,077 (GRCm39)	Q235L	probably benign	Het
Or10j3b	A	G	1: 173,043,451 (GRCm39)	I78V	possibly damaging	Het
Or52ae7	A	G	7: 103,119,555 (GRCm39)	Y103C	probably benign	Het
Otoa	C	T	7: 120,744,840 (GRCm39)	A866V	probably benign	Het
Pak4	A	G	7: 28,260,240 (GRCm39)	L492P	probably damaging	Het
Pctp	A	T	11: 89,876,938 (GRCm39)	L187H	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf8-ps	T	G	17: 33,285,579 (GRCm39)	T408P	probably damaging	Het
Pik3ap1	T	G	19: 41,317,743 (GRCm39)	D204A	probably damaging	Het
Pitrm1	T	C	13: 6,603,280 (GRCm39)	V110A	probably benign	Het
Prokr1	A	T	6: 87,558,407 (GRCm39)	V326E	possibly damaging	Het
Prrt2	T	C	7: 126,619,343 (GRCm39)	I41V	probably benign	Het
Psmb1	A	G	17: 15,710,478 (GRCm39)	Y24H	probably damaging	Het
Ptpdc1	C	T	13: 48,736,722 (GRCm39)	A683T	possibly damaging	Het
Ptprb	A	G	10: 116,151,057 (GRCm39)	K240E	probably benign	Het
Ranbp2	T	C	10: 58,316,486 (GRCm39)	V2402A	probably benign	Het
Rictor	T	C	15: 6,773,848 (GRCm39)	F79L	probably benign	Het
Ripk2	A	C	4: 16,127,651 (GRCm39)	S364A	probably benign	Het
S100a4	A	T	3: 90,512,394 (GRCm39)	K26*	probably null	Het
Shank1	A	G	7: 44,001,478 (GRCm39)	T1066A	unknown	Het
Slc9b2	A	G	3: 135,036,446 (GRCm39)	T417A	probably benign	Het
Slf2	C	T	19: 44,923,953 (GRCm39)	Q256*	probably null	Het
Smad5	T	C	13: 56,885,242 (GRCm39)	V450A	possibly damaging	Het
Smok3c	A	C	5: 138,063,770 (GRCm39)	D419A	probably damaging	Het
Tdpoz4	A	T	3: 93,703,741 (GRCm39)	T13S	probably damaging	Het
Tdrd6	A	T	17: 43,936,217 (GRCm39)	N1610K	probably damaging	Het
Tex19.2	A	G	11: 121,007,566 (GRCm39)	L294P	possibly damaging	Het
Tex44	T	C	1: 86,355,383 (GRCm39)	W431R	probably damaging	Het
Tmcc1	A	T	6: 116,111,050 (GRCm39)	V77E	probably benign	Het
Tmed4	A	T	11: 6,224,133 (GRCm39)	M121K	possibly damaging	Het
Trit1	T	C	4: 122,945,898 (GRCm39)	V349A	possibly damaging	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ufd1	T	C	16: 18,634,113 (GRCm39)		probably null	Het
Umps	T	C	16: 33,777,206 (GRCm39)	N458S	probably benign	Het
Vmn2r24	A	C	6: 123,792,357 (GRCm39)	Q561H	probably damaging	Het
Vwce	T	G	19: 10,624,061 (GRCm39)	S317R	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp977	A	T	7: 42,229,518 (GRCm39)	F336I	probably damaging	Het
Zranb3	A	T	1: 127,887,828 (GRCm39)	D866E	probably benign	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
R6467:Cd55	UTSW	1	130,375,348 (GRCm39)	splice site	probably benign
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
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'- TATGCAGCTCTTTAGACAAGAACC -3'
(R):5'- CCCCTCTTATTTGTTAGGTGGTGAC -3'

Sequencing Primer
(F):5'- CTTTAGACAAGAACCATGTTGACCTC -3'
(R):5'- GTGGTGACCGTTATATATATGGTAAG -3'

Posted On

2022-04-18