Mutagenetix > Incidental Mutation

Incidental Mutation 'R5731:Cd177'

452758

Institutional Source

Beutler Lab

Gene Symbol

Cd177

Ensembl Gene

ENSMUSG00000052212

Gene Name

CD177 antigen

Synonyms

1190003K14Rik, Pdp3

MMRRC Submission

043192-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R5731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24443408-24459736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24443846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 751 (C751R)

Ref Sequence

ENSEMBL: ENSMUSP00000064934 (fasta)

Gene Model

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

AlphaFold

Q8R2S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000063956
AA Change: C751R

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

SMART Domains

Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: C751R

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,919,353 (GRCm39)	I58V	unknown	Het
Abca4	G	T	3: 121,926,242 (GRCm39)	G18V	probably damaging	Het
Arl9	T	C	5: 77,154,374 (GRCm39)	V34A	possibly damaging	Het
Bpifb9a	A	T	2: 154,104,163 (GRCm39)	N202I	possibly damaging	Het
C1qtnf6	A	T	15: 78,411,514 (GRCm39)	M54K	probably benign	Het
Ccdc62	T	C	5: 124,089,352 (GRCm39)		probably null	Het
Clcn3	T	C	8: 61,375,923 (GRCm39)	I657V	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dag1	T	C	9: 108,095,310 (GRCm39)	T61A	probably benign	Het
Fam184b	C	T	5: 45,710,471 (GRCm39)	G553E	probably benign	Het
Fkbp15	G	C	4: 62,225,166 (GRCm39)	A831G	probably benign	Het
Flt1	T	C	5: 147,614,962 (GRCm39)	H328R	probably benign	Het
Fmnl2	T	A	2: 53,008,149 (GRCm39)		probably null	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Gprin2	C	A	14: 33,917,397 (GRCm39)	L124F	probably damaging	Het
Hacd2	T	A	16: 34,922,374 (GRCm39)	Y188N	probably damaging	Het
Itgad	A	G	7: 127,797,726 (GRCm39)	T950A	probably benign	Het
Kit	T	A	5: 75,815,075 (GRCm39)	I933N	possibly damaging	Het
Klhl11	A	T	11: 100,354,589 (GRCm39)	Y411N	probably damaging	Het
N4bp2	T	C	5: 65,966,500 (GRCm39)	S1313P	probably damaging	Het
Neurog1	T	C	13: 56,399,354 (GRCm39)	K131R	probably damaging	Het
Or11h6	T	C	14: 50,880,248 (GRCm39)	L170P	probably damaging	Het
Or5d16	T	A	2: 87,773,771 (GRCm39)	H67L	possibly damaging	Het
Otogl	T	C	10: 107,717,325 (GRCm39)	D382G	probably damaging	Het
Pcdh1	A	C	18: 38,331,651 (GRCm39)	F590V	probably damaging	Het
Pcdha5	G	A	18: 37,093,820 (GRCm39)	V110M	probably damaging	Het
Pdlim3	A	G	8: 46,368,284 (GRCm39)	N261D	probably benign	Het
Pou4f1	T	C	14: 104,703,347 (GRCm39)	T362A	unknown	Het
Prlr	A	G	15: 10,314,221 (GRCm39)	T9A	probably benign	Het
Psmb7	T	C	2: 38,478,289 (GRCm39)	Y245C	probably damaging	Het
Ryr3	T	A	2: 112,471,917 (GRCm39)	D4515V	probably damaging	Het
Svop	T	C	5: 114,198,124 (GRCm39)	K149E	probably damaging	Het
Tlr3	A	G	8: 45,851,157 (GRCm39)	V56A	probably benign	Het
Tm4sf20	T	G	1: 82,738,013 (GRCm39)	I93L	probably benign	Het
Ugt2b5	T	A	5: 87,288,111 (GRCm39)	R19*	probably null	Het
Vmn2r28	G	T	7: 5,491,668 (GRCm39)	T193K	probably benign	Het
Vps13c	A	G	9: 67,802,661 (GRCm39)	D654G	probably damaging	Het
Zfyve16	T	A	13: 92,644,701 (GRCm39)	Q1167L	probably benign	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
IGL00913:Cd177	APN	7	24,455,620 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCAGCATACAAAGAGCTGAG -3'
(R):5'- TCTCAGATGGAAGAGGCCTG -3'

Sequencing Primer
(F):5'- CTGAGAAGAGCCGATAGCCC -3'
(R):5'- TACTGGACACCTGGGTCTGAG -3'

Posted On

2017-01-03