Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Cd177'

47578

Institutional Source

Beutler Lab

Gene Symbol

Cd177

Ensembl Gene

ENSMUSG00000052212

Gene Name

CD177 antigen

Synonyms

Pdp3, 1190003K14Rik

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R0506 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

24743983-24760311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24758356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 159 (Y159C)

Ref Sequence

ENSEMBL: ENSMUSP00000064934 (fasta)

Gene Model

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

AlphaFold

Q8R2S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000063956
AA Change: Y159C

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

SMART Domains

Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: Y159C

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

Meta Mutation Damage Score

0.6574

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,538,096	C378*	probably null	Het
Ago3	T	C	4: 126,417,252	D56G	possibly damaging	Het
Ahnak	G	T	19: 9,009,128	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,433,526	G470D	probably damaging	Het
Ankub1	T	A	3: 57,690,375	N58I	probably damaging	Het
Apol7b	G	T	15: 77,425,528	T23K	probably benign	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 102,875,777	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,589,812	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,470,992	C109S	probably damaging	Het
Catsperd	A	G	17: 56,658,078	K475R	possibly damaging	Het
Cblb	A	G	16: 52,204,480	T913A	probably benign	Het
Cbx6	A	G	15: 79,828,203	L341P	probably benign	Het
Cdh7	A	G	1: 110,100,114	N530D	probably damaging	Het
Cdk8	T	C	5: 146,298,872	F270L	probably damaging	Het
Ces2c	A	T	8: 104,848,024	T38S	probably damaging	Het
Chst14	T	C	2: 118,927,721	L357P	probably damaging	Het
Clca3b	T	A	3: 144,822,866		probably benign	Het
Cluh	A	G	11: 74,664,894	S839G	probably benign	Het
Cnga4	T	A	7: 105,407,740	V350E	probably damaging	Het
Creb1	G	A	1: 64,570,267	G180R	probably damaging	Het
Csmd3	T	C	15: 48,457,511	E301G	probably benign	Het
Cyp4f18	A	T	8: 71,996,000	D268E	probably benign	Het
Dock5	A	G	14: 67,784,792		probably benign	Het
Dpy19l4	T	A	4: 11,289,715	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153	H224L	probably benign	Het
Dzip1l	C	A	9: 99,663,081	Q585K	possibly damaging	Het
Erf	C	T	7: 25,244,376	G510D	probably damaging	Het
Fanci	T	C	7: 79,432,178	L623P	probably benign	Het
Fat1	T	C	8: 45,022,951	V1655A	probably damaging	Het
Fat4	T	C	3: 38,888,314	V452A	probably benign	Het
Gal3st4	C	T	5: 138,265,889	G283S	probably benign	Het
Gm5422	A	G	10: 31,250,322		noncoding transcript	Het
Gnal	C	T	18: 67,088,673	T49I	unknown	Het
Gng5	A	G	3: 146,503,348	N57S	probably damaging	Het
Herc1	A	G	9: 66,448,159	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,044,240	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,742,341	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,736,312	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,778,067	E98K	probably damaging	Het
Lepr	G	T	4: 101,773,010		probably benign	Het
Lyst	A	G	13: 13,638,015	H1004R	probably benign	Het
Map3k1	T	A	13: 111,755,764	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,803,504	S107P	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Myo7b	A	G	18: 31,964,386		probably null	Het
Myom1	T	C	17: 71,092,220		probably benign	Het
Nalcn	C	T	14: 123,596,614	V50I	possibly damaging	Het
Negr1	A	G	3: 157,160,748		probably benign	Het
Nlrc5	T	G	8: 94,493,125		probably benign	Het
Nyap2	G	A	1: 81,087,312	D14N	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1490	T	A	19: 13,654,897	I151N	possibly damaging	Het
Olfr91	C	A	17: 37,093,311	G188W	probably damaging	Het
Parp14	A	T	16: 35,841,409	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,027,544	F2347S	probably damaging	Het
Pigf	A	G	17: 87,008,909	V147A	probably benign	Het
Pkhd1	A	T	1: 20,559,469	M637K	probably benign	Het
Plce1	T	C	19: 38,760,138	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,206,648		probably benign	Het
Prag1	T	C	8: 36,103,700	V479A	possibly damaging	Het
Prss33	A	T	17: 23,835,105	D42E	probably benign	Het
Psmb10	A	G	8: 105,937,545	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Psmg1	C	T	16: 95,989,487		probably benign	Het
Rc3h2	A	T	2: 37,376,659		probably null	Het
Reln	C	T	5: 21,920,496	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,743,795	H101Q	probably benign	Het
Selenoi	A	G	5: 30,266,956	N385S	probably benign	Het
Slc24a4	T	C	12: 102,131,623		probably null	Het
Slc4a10	G	A	2: 62,250,533	S338N	probably benign	Het
Slfn3	A	T	11: 83,213,160	T286S	probably damaging	Het
Snx29	A	G	16: 11,395,303	D111G	probably benign	Het
Sp8	T	C	12: 118,848,565	S52P	possibly damaging	Het
Srek1	G	T	13: 103,760,590	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tatdn2	C	A	6: 113,702,589	D298E	probably benign	Het
Tmem253	A	T	14: 52,017,206		probably benign	Het
Tmem63a	T	A	1: 180,958,049		probably null	Het
Tmprss11b	T	C	5: 86,661,640	D331G	probably damaging	Het
Tor1aip1	T	A	1: 156,007,674	K143*	probably null	Het
Trappc8	A	T	18: 20,844,188	N841K	possibly damaging	Het
Trio	T	C	15: 27,854,963	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306	T114N	probably damaging	Het
Trpv2	C	A	11: 62,582,906	A129D	probably benign	Het
Ttll4	T	G	1: 74,688,618	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,336,649	L172P	possibly damaging	Het
Usp19	T	A	9: 108,494,487	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,805,944	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,357,759	D443E	probably benign	Het
Wee2	A	T	6: 40,463,253	E445V	probably benign	Het
Zer1	A	T	2: 30,101,807	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,402,735	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,309,055	Q157*	probably null	Het
Zfp964	T	A	8: 69,663,937	C396S	unknown	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	24744393	missense	probably damaging	1.00
IGL02821:Cd177	APN	7	24744394	missense	probably damaging	1.00
IGL02888:Cd177	APN	7	24758437	missense	probably damaging	0.99
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
R8094:Cd177	UTSW	7	24744417	missense	probably damaging	0.99
R8121:Cd177	UTSW	7	24759642	missense	probably benign
R8192:Cd177	UTSW	7	24754302	missense	probably benign	0.00
R8314:Cd177	UTSW	7	24750588	missense	probably benign	0.15
R8682:Cd177	UTSW	7	24760013	missense	possibly damaging	0.92
R8730:Cd177	UTSW	7	24758076	missense	possibly damaging	0.89
R9185:Cd177	UTSW	7	24744243	missense	probably benign	0.00
R9217:Cd177	UTSW	7	24746125	missense	possibly damaging	0.93
R9335:Cd177	UTSW	7	24744286	missense	probably benign	0.04
R9595:Cd177	UTSW	7	24752337	missense	probably damaging	1.00
R9796:Cd177	UTSW	7	24759744	missense	probably benign
Z1176:Cd177	UTSW	7	24746171	missense	probably benign	0.01
Z1177:Cd177	UTSW	7	24760256	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATATACAAGGTCCCAATCGCCTGG -3'
(R):5'- TAGCCTGATTTCCCCTGAGACAGC -3'

Sequencing Primer
(F):5'- gaggagaagaggggaggg -3'
(R):5'- AGCTGTCTGAGGGGAGC -3'

Posted On

2013-06-12