Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00913:Cd177'

27791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd177

Ensembl Gene

ENSMUSG00000052212

Gene Name

CD177 antigen

Synonyms

1190003K14Rik, Pdp3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.587) question?

Stock #

IGL00913

Quality Score

Status

Chromosome

Chromosomal Location

24443408-24459736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24455620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 301 (D301Y)

Ref Sequence

ENSEMBL: ENSMUSP00000064934 (fasta)

Gene Model

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

AlphaFold

Q8R2S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000063956
AA Change: D301Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: D301Y

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	A	G	17: 42,977,793 (GRCm39)	S517P	possibly damaging	Het
Arl4c	T	C	1: 88,629,106 (GRCm39)	D94G	probably damaging	Het
Bag5	T	C	12: 111,677,766 (GRCm39)	E19G	probably damaging	Het
Carf	T	A	1: 60,187,114 (GRCm39)	D537E	probably benign	Het
Csmd1	C	T	8: 16,121,301 (GRCm39)	V1799I	probably benign	Het
Cyp4x1	T	A	4: 114,970,060 (GRCm39)	I356F	probably benign	Het
F5	A	T	1: 164,032,465 (GRCm39)	H1804L	probably damaging	Het
Fras1	G	T	5: 96,842,935 (GRCm39)	G1718C	probably damaging	Het
Ganc	T	C	2: 120,269,933 (GRCm39)		probably benign	Het
Hs3st5	A	G	10: 36,708,846 (GRCm39)	D127G	probably damaging	Het
Inpp5a	A	G	7: 139,096,637 (GRCm39)	D154G	probably benign	Het
Kif16b	T	A	2: 142,545,927 (GRCm39)	R1134*	probably null	Het
Lrrc66	C	T	5: 73,765,499 (GRCm39)	A515T	possibly damaging	Het
Map3k10	C	T	7: 27,362,640 (GRCm39)		probably benign	Het
Mideas	T	A	12: 84,219,632 (GRCm39)	I441L	probably benign	Het
Mrpl12	G	A	11: 120,376,202 (GRCm39)	D71N	possibly damaging	Het
Nfix	A	T	8: 85,453,106 (GRCm39)	V316E	probably damaging	Het
Nop2	A	G	6: 125,116,784 (GRCm39)	Y346C	probably damaging	Het
Nrbp1	A	G	5: 31,408,403 (GRCm39)	E513G	possibly damaging	Het
Ogfrl1	T	C	1: 23,409,171 (GRCm39)	I352V	probably benign	Het
Or7a35	A	G	10: 78,854,085 (GRCm39)	T310A	probably benign	Het
Or8b48	T	A	9: 38,492,672 (GRCm39)	V33E	probably damaging	Het
Oxr1	G	A	15: 41,683,539 (GRCm39)	V15I	possibly damaging	Het
Pik3r6	T	G	11: 68,442,147 (GRCm39)	F697C	probably damaging	Het
Ptk2	A	G	15: 73,167,238 (GRCm39)		probably benign	Het
Rnft2	G	A	5: 118,339,280 (GRCm39)	T380M	probably damaging	Het
Scel	A	G	14: 103,819,245 (GRCm39)	N346S	probably benign	Het
Sema4a	T	A	3: 88,357,117 (GRCm39)	T153S	probably damaging	Het
Serinc2	A	T	4: 130,158,201 (GRCm39)	L82Q	possibly damaging	Het
Sin3a	A	G	9: 57,005,402 (GRCm39)	T392A	probably benign	Het
Slc25a38	T	A	9: 119,949,373 (GRCm39)	Y108*	probably null	Het
Tmc8	G	A	11: 117,677,330 (GRCm39)	G317R	probably damaging	Het
Trpc3	A	G	3: 36,694,788 (GRCm39)	V722A	possibly damaging	Het
Unc93a2	A	T	17: 7,637,138 (GRCm39)	V130D	probably damaging	Het

Other mutations in Cd177

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Cd177	APN	7	24,459,176 (GRCm39)	missense	possibly damaging	0.59
IGL00479:Cd177	APN	7	24,457,440 (GRCm39)	missense	probably benign	0.05
IGL00673:Cd177	APN	7	24,451,442 (GRCm39)	missense	possibly damaging	0.78
IGL01445:Cd177	APN	7	24,451,496 (GRCm39)	missense	possibly damaging	0.95
IGL02021:Cd177	APN	7	24,444,631 (GRCm39)	missense	probably benign	0.16
IGL02134:Cd177	APN	7	24,451,777 (GRCm39)	missense	probably benign	0.01
IGL02532:Cd177	APN	7	24,444,674 (GRCm39)	missense	probably benign	0.30
IGL02821:Cd177	APN	7	24,443,819 (GRCm39)	missense	probably damaging	1.00
IGL02821:Cd177	APN	7	24,443,818 (GRCm39)	missense	probably damaging	1.00
IGL02888:Cd177	APN	7	24,457,862 (GRCm39)	missense	probably damaging	0.99
R0506:Cd177	UTSW	7	24,457,781 (GRCm39)	missense	probably damaging	1.00
R0601:Cd177	UTSW	7	24,451,738 (GRCm39)	missense	probably benign	0.00
R0631:Cd177	UTSW	7	24,456,111 (GRCm39)	missense	probably benign	0.03
R0713:Cd177	UTSW	7	24,443,855 (GRCm39)	missense	probably benign	0.25
R1595:Cd177	UTSW	7	24,444,389 (GRCm39)	missense	probably benign
R1659:Cd177	UTSW	7	24,445,562 (GRCm39)	missense	probably damaging	1.00
R2258:Cd177	UTSW	7	24,455,661 (GRCm39)	missense	possibly damaging	0.73
R2260:Cd177	UTSW	7	24,455,661 (GRCm39)	missense	possibly damaging	0.73
R2379:Cd177	UTSW	7	24,457,468 (GRCm39)	missense	possibly damaging	0.80
R2763:Cd177	UTSW	7	24,457,462 (GRCm39)	missense	probably benign	0.05
R2929:Cd177	UTSW	7	24,453,704 (GRCm39)	nonsense	probably null
R3815:Cd177	UTSW	7	24,453,817 (GRCm39)	missense	probably benign	0.00
R3818:Cd177	UTSW	7	24,453,817 (GRCm39)	missense	probably benign	0.00
R3919:Cd177	UTSW	7	24,443,858 (GRCm39)	missense	probably benign	0.15
R4300:Cd177	UTSW	7	24,449,845 (GRCm39)	missense	possibly damaging	0.48
R4494:Cd177	UTSW	7	24,451,428 (GRCm39)	missense	probably benign	0.06
R4781:Cd177	UTSW	7	24,450,051 (GRCm39)	missense	probably damaging	1.00
R4819:Cd177	UTSW	7	24,451,696 (GRCm39)	missense	probably damaging	1.00
R5062:Cd177	UTSW	7	24,443,741 (GRCm39)	missense	probably benign	0.03
R5186:Cd177	UTSW	7	24,444,348 (GRCm39)	missense	probably benign	0.31
R5285:Cd177	UTSW	7	24,445,674 (GRCm39)	missense	probably benign	0.00
R5415:Cd177	UTSW	7	24,451,816 (GRCm39)	missense	probably damaging	1.00
R5577:Cd177	UTSW	7	24,444,562 (GRCm39)	missense	probably damaging	1.00
R5637:Cd177	UTSW	7	24,455,748 (GRCm39)	missense	probably benign	0.01
R5673:Cd177	UTSW	7	24,449,787 (GRCm39)	missense	probably damaging	1.00
R5731:Cd177	UTSW	7	24,443,846 (GRCm39)	missense	probably damaging	1.00
R5775:Cd177	UTSW	7	24,451,693 (GRCm39)	missense	probably damaging	1.00
R5840:Cd177	UTSW	7	24,457,495 (GRCm39)	missense	probably damaging	0.99
R5870:Cd177	UTSW	7	24,455,757 (GRCm39)	missense	probably benign	0.00
R5872:Cd177	UTSW	7	24,451,688 (GRCm39)	missense	probably null	1.00
R6148:Cd177	UTSW	7	24,443,698 (GRCm39)	nonsense	probably null
R6505:Cd177	UTSW	7	24,443,671 (GRCm39)	missense	probably benign	0.00
R6897:Cd177	UTSW	7	24,444,499 (GRCm39)	missense	probably benign	0.31
R7023:Cd177	UTSW	7	24,459,187 (GRCm39)	missense	probably benign	0.44
R7088:Cd177	UTSW	7	24,444,558 (GRCm39)	nonsense	probably null
R7188:Cd177	UTSW	7	24,456,072 (GRCm39)	missense	probably damaging	1.00
R7366:Cd177	UTSW	7	24,456,147 (GRCm39)	missense	probably damaging	1.00
R7744:Cd177	UTSW	7	24,449,800 (GRCm39)	missense	probably damaging	1.00
R8008:Cd177	UTSW	7	24,451,774 (GRCm39)	missense	not run
R8029:Cd177	UTSW	7	24,455,594 (GRCm39)	nonsense	probably null
R8030:Cd177	UTSW	7	24,455,594 (GRCm39)	nonsense	probably null
R8032:Cd177	UTSW	7	24,455,594 (GRCm39)	nonsense	probably null
R8094:Cd177	UTSW	7	24,443,842 (GRCm39)	missense	probably damaging	0.99
R8121:Cd177	UTSW	7	24,459,067 (GRCm39)	missense	probably benign
R8192:Cd177	UTSW	7	24,453,727 (GRCm39)	missense	probably benign	0.00
R8314:Cd177	UTSW	7	24,450,013 (GRCm39)	missense	probably benign	0.15
R8682:Cd177	UTSW	7	24,459,438 (GRCm39)	missense	possibly damaging	0.92
R8730:Cd177	UTSW	7	24,457,501 (GRCm39)	missense	possibly damaging	0.89
R9185:Cd177	UTSW	7	24,443,668 (GRCm39)	missense	probably benign	0.00
R9217:Cd177	UTSW	7	24,445,550 (GRCm39)	missense	possibly damaging	0.93
R9335:Cd177	UTSW	7	24,443,711 (GRCm39)	missense	probably benign	0.04
R9595:Cd177	UTSW	7	24,451,762 (GRCm39)	missense	probably damaging	1.00
R9796:Cd177	UTSW	7	24,459,169 (GRCm39)	missense	probably benign
Z1176:Cd177	UTSW	7	24,445,596 (GRCm39)	missense	probably benign	0.01
Z1177:Cd177	UTSW	7	24,459,681 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17