Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02821:Cd177'

361020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd177

Ensembl Gene

ENSMUSG00000052212

Gene Name

CD177 antigen

Synonyms

Pdp3, 1190003K14Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

IGL02821

Quality Score

Status

Chromosome

Chromosomal Location

24743983-24760311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24744393 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 760 (L760Q)

Ref Sequence

ENSEMBL: ENSMUSP00000064934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063956]

Predicted Effect

probably damaging
Transcript: ENSMUST00000063956
AA Change: L760Q

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

SMART Domains

Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: L760Q

Domain	Start	End	E-Value	Type
Pfam:UPAR_LY6	134	214	3.7e-11	PFAM
Pfam:UPAR_LY6	226	300	1.2e-4	PFAM
low complexity region	301	317	N/A	INTRINSIC
Pfam:UPAR_LY6	322	400	1.5e-9	PFAM
Pfam:UPAR_LY6	511	586	9.1e-12	PFAM
Pfam:UPAR_LY6	705	782	1.4e-11	PFAM
low complexity region	795	811	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206160

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils, increased neutrophil cell death and decreased neutrophils and monocytes early after S. aureus infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	G	A	5: 5,452,039	Q138*	probably null	Het
1700025F22Rik	A	G	19: 11,141,533	*71Q	probably null	Het
4930474N05Rik	T	C	14: 36,096,516	L157S	probably benign	Het
Adam15	A	G	3: 89,345,356	S309P	probably damaging	Het
Agtpbp1	A	T	13: 59,482,601	M772K	possibly damaging	Het
Ankfn1	T	C	11: 89,391,616	M402V	probably benign	Het
Anln	G	A	9: 22,358,122	T822I	possibly damaging	Het
Atp13a4	A	G	16: 29,441,307	V589A	probably benign	Het
Ccm2l	C	T	2: 153,067,859	L44F	probably damaging	Het
Cfap69	T	C	5: 5,664,017	E5G	probably benign	Het
Col4a1	G	A	8: 11,221,375	T753I	probably benign	Het
Col6a3	T	A	1: 90,803,878	D1551V	probably damaging	Het
Ddx20	A	G	3: 105,679,277	V584A	probably benign	Het
Dopey1	C	A	9: 86,520,156	H1136Q	probably benign	Het
Egf	T	C	3: 129,702,479	E329G	probably damaging	Het
Eif3c	A	G	7: 126,558,659	V337A	probably benign	Het
Eif3f	G	T	7: 108,934,674		probably benign	Het
Eif3f	C	T	7: 108,934,675		probably benign	Het
Evc	T	A	5: 37,326,396	I187F	probably benign	Het
Fam117a	T	G	11: 95,363,989		probably benign	Het
H2-M10.4	A	T	17: 36,460,431	V285E	probably damaging	Het
Hps4	G	T	5: 112,375,441	M608I	probably benign	Het
Idh3b	T	A	2: 130,284,401	N6I	probably benign	Het
Itgam	A	T	7: 128,076,109	M169L	probably damaging	Het
Kcnn3	G	A	3: 89,662,722	G614D	possibly damaging	Het
Kcnn3	A	G	3: 89,520,974	N169S	possibly damaging	Het
Mn1	A	T	5: 111,421,851	K1229M	probably damaging	Het
Nckap5	A	G	1: 126,027,816	M401T	probably damaging	Het
Olfr366	T	C	2: 37,220,100	S204P	probably damaging	Het
Olfr891	T	C	9: 38,180,668	N52D	possibly damaging	Het
Olfr985	T	G	9: 40,127,265	E232A	probably benign	Het
Sim2	G	A	16: 94,097,188	V94M	probably damaging	Het
Slc46a3	G	A	5: 147,886,012	T340M	probably benign	Het
Ssc4d	A	G	5: 135,966,069		probably benign	Het
Tcrg-V4	T	A	13: 19,185,252	D55E	possibly damaging	Het
Trav12-1	A	G	14: 53,538,459	D22G	probably damaging	Het
Trps1	G	A	15: 50,660,877	T969M	probably damaging	Het
Ttn	T	A	2: 76,889,550		probably benign	Het
Ubqln4	A	G	3: 88,563,151	N310S	probably benign	Het
Vapa	T	C	17: 65,582,761		probably benign	Het
Vmn1r65	T	C	7: 6,008,894	T114A	possibly damaging	Het
Vps13d	T	C	4: 145,148,762	E1725G	probably damaging	Het
Vps53	A	G	11: 76,136,317		probably benign	Het
Xkr9	T	C	1: 13,672,575	L28P	probably damaging	Het

Other mutations in Cd177

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Cd177	APN	7	24759751	missense	possibly damaging	0.59
IGL00479:Cd177	APN	7	24758015	missense	probably benign	0.05
IGL00673:Cd177	APN	7	24752017	missense	possibly damaging	0.78
IGL00913:Cd177	APN	7	24756195	missense	probably damaging	1.00
IGL01445:Cd177	APN	7	24752071	missense	possibly damaging	0.95
IGL02021:Cd177	APN	7	24745206	missense	probably benign	0.16
IGL02134:Cd177	APN	7	24752352	missense	probably benign	0.01
IGL02532:Cd177	APN	7	24745249	missense	probably benign	0.30
IGL02821:Cd177	APN	7	24744394	missense	probably damaging	1.00
IGL02888:Cd177	APN	7	24758437	missense	probably damaging	0.99
R0506:Cd177	UTSW	7	24758356	missense	probably damaging	1.00
R0601:Cd177	UTSW	7	24752313	missense	probably benign	0.00
R0631:Cd177	UTSW	7	24756686	missense	probably benign	0.03
R0713:Cd177	UTSW	7	24744430	missense	probably benign	0.25
R1595:Cd177	UTSW	7	24744964	missense	probably benign
R1659:Cd177	UTSW	7	24746137	missense	probably damaging	1.00
R2258:Cd177	UTSW	7	24756236	missense	possibly damaging	0.73
R2260:Cd177	UTSW	7	24756236	missense	possibly damaging	0.73
R2379:Cd177	UTSW	7	24758043	missense	possibly damaging	0.80
R2763:Cd177	UTSW	7	24758037	missense	probably benign	0.05
R2929:Cd177	UTSW	7	24754279	nonsense	probably null
R3815:Cd177	UTSW	7	24754392	missense	probably benign	0.00
R3818:Cd177	UTSW	7	24754392	missense	probably benign	0.00
R3919:Cd177	UTSW	7	24744433	missense	probably benign	0.15
R4300:Cd177	UTSW	7	24750420	missense	possibly damaging	0.48
R4494:Cd177	UTSW	7	24752003	missense	probably benign	0.06
R4781:Cd177	UTSW	7	24750626	missense	probably damaging	1.00
R4819:Cd177	UTSW	7	24752271	missense	probably damaging	1.00
R5062:Cd177	UTSW	7	24744316	missense	probably benign	0.03
R5186:Cd177	UTSW	7	24744923	missense	probably benign	0.31
R5285:Cd177	UTSW	7	24746249	missense	probably benign	0.00
R5415:Cd177	UTSW	7	24752391	missense	probably damaging	1.00
R5577:Cd177	UTSW	7	24745137	missense	probably damaging	1.00
R5637:Cd177	UTSW	7	24756323	missense	probably benign	0.01
R5673:Cd177	UTSW	7	24750362	missense	probably damaging	1.00
R5731:Cd177	UTSW	7	24744421	missense	probably damaging	1.00
R5775:Cd177	UTSW	7	24752268	missense	probably damaging	1.00
R5840:Cd177	UTSW	7	24758070	missense	probably damaging	0.99
R5870:Cd177	UTSW	7	24756332	missense	probably benign	0.00
R5872:Cd177	UTSW	7	24752263	missense	probably null	1.00
R6148:Cd177	UTSW	7	24744273	nonsense	probably null
R6505:Cd177	UTSW	7	24744246	missense	probably benign	0.00
R6897:Cd177	UTSW	7	24745074	missense	probably benign	0.31
R7023:Cd177	UTSW	7	24759762	missense	probably benign	0.44
R7088:Cd177	UTSW	7	24745133	nonsense	probably null
R7188:Cd177	UTSW	7	24756647	missense	probably damaging	1.00
R7366:Cd177	UTSW	7	24756722	missense	probably damaging	1.00
R7744:Cd177	UTSW	7	24750375	missense	probably damaging	1.00
R8008:Cd177	UTSW	7	24752349	missense	not run
R8029:Cd177	UTSW	7	24756169	nonsense	probably null
R8030:Cd177	UTSW	7	24756169	nonsense	probably null
R8032:Cd177	UTSW	7	24756169	nonsense	probably null
Z1176:Cd177	UTSW	7	24746171	missense	probably benign	0.01
Z1177:Cd177	UTSW	7	24760256	missense	probably damaging	1.00

Posted On

2015-12-18