Mutagenetix > Incidental Mutation

Incidental Mutation 'R2379:Cd177'

248380

Institutional Source

Beutler Lab

Gene Symbol

Cd177

Ensembl Gene

ENSMUSG00000052212

Gene Name

CD177 antigen

Synonyms

1190003K14Rik, Pdp3

MMRRC Submission

040355-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R2379 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24443408-24459736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24457468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 191 (T191I)

Ref Sequence

ENSEMBL: ENSMUSP00000064934 (fasta)

Gene Model

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

AlphaFold

Q8R2S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063956
AA Change: T191I

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: T191I

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

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

93% (37/40)

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
Aff4	T	C	11: 53,299,305 (GRCm39)		probably benign	Het
Anpep	T	C	7: 79,490,966 (GRCm39)	T209A	probably benign	Het
Asb16	A	G	11: 102,163,357 (GRCm39)	T116A	probably benign	Het
Brd10	G	T	19: 29,696,275 (GRCm39)	Q1140K	probably benign	Het
Btc	A	T	5: 91,524,768 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,954,717 (GRCm39)	D860G	possibly damaging	Het
Cngb1	A	G	8: 95,986,758 (GRCm39)	L378P	probably damaging	Het
Ddx60	T	C	8: 62,490,122 (GRCm39)	F1697S	probably damaging	Het
Dop1a	G	A	9: 86,403,138 (GRCm39)	S1446N	probably damaging	Het
Fn1	T	A	1: 71,688,443 (GRCm39)	K154*	probably null	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Ifi204	T	A	1: 173,583,559 (GRCm39)	R220*	probably null	Het
Limk1	A	G	5: 134,708,335 (GRCm39)		probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mms22l	T	A	4: 24,496,929 (GRCm39)	S8T	possibly damaging	Het
Mpp7	T	A	18: 7,403,345 (GRCm39)	R322*	probably null	Het
Mycbp2	T	C	14: 103,412,386 (GRCm39)	N2529S	probably benign	Het
Npr3	A	G	15: 11,883,449 (GRCm39)	F327L	probably damaging	Het
Or12j3	A	T	7: 139,952,748 (GRCm39)	Y258*	probably null	Het
Or14c41	T	G	7: 86,235,400 (GRCm39)	F306V	probably benign	Het
Or14c46	T	C	7: 85,918,857 (GRCm39)	T47A	probably damaging	Het
Or51f5	A	T	7: 102,424,052 (GRCm39)	H107L	probably benign	Het
Or5p1	T	C	7: 107,916,499 (GRCm39)	S133P	probably benign	Het
Or6c217	A	T	10: 129,737,781 (GRCm39)	V266E	probably damaging	Het
Or7e177	T	C	9: 20,211,963 (GRCm39)	S157P	possibly damaging	Het
Pld2	A	T	11: 70,445,140 (GRCm39)	Y580F	probably benign	Het
Scart2	A	T	7: 139,879,682 (GRCm39)	D990V	probably benign	Het
Sik3	A	G	9: 46,066,707 (GRCm39)	E162G	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Spen	T	C	4: 141,244,238 (GRCm39)	T266A	unknown	Het
Tnks1bp1	A	G	2: 84,894,182 (GRCm39)	S1370G	probably benign	Het
Usp28	A	G	9: 48,914,395 (GRCm39)	R99G	probably null	Het
Vmn2r13	T	G	5: 109,319,644 (GRCm39)	E445D	probably benign	Het
Vmn2r27	A	G	6: 124,201,342 (GRCm39)	I205T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTGCAGACACACTCTCCAG -3'
(R):5'- AGAAATTAGGACTTGTCTCCTGC -3'

Sequencing Primer
(F):5'- GTCACCCCAAAGAGTCAGTC -3'
(R):5'- GGACTTGTCTCCTGCAGAAATTAG -3'

Posted On

2014-11-11