Mutagenetix > Incidental Mutation

Incidental Mutation 'R3818:Cd177'

274780

Institutional Source

Beutler Lab

Gene Symbol

Cd177

Ensembl Gene

ENSMUSG00000052212

Gene Name

CD177 antigen

Synonyms

1190003K14Rik, Pdp3

MMRRC Submission

040772-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.587) question?

Stock #

R3818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24443408-24459736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24453817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 358 (V358A)

Ref Sequence

ENSEMBL: ENSMUSP00000064934 (fasta)

Gene Model

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

AlphaFold

Q8R2S8

Predicted Effect

probably benign
Transcript: ENSMUST00000063956
AA Change: V358A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000064934
Gene: ENSMUSG00000052212
AA Change: V358A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (34/34)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	C	10: 80,155,351 (GRCm39)	D54G	probably damaging	Het
Adra2b	G	T	2: 127,205,755 (GRCm39)	E86*	probably null	Het
Cachd1	A	T	4: 100,848,062 (GRCm39)	D1059V	probably damaging	Het
Col25a1	A	G	3: 130,343,720 (GRCm39)	K396R	possibly damaging	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Cyp4a30b	G	T	4: 115,316,206 (GRCm39)	A311S	probably damaging	Het
Dse	T	C	10: 34,029,429 (GRCm39)	I554V	probably benign	Het
Gabrg3	G	A	7: 57,031,412 (GRCm39)	Q43*	probably null	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Gpr21	C	A	2: 37,408,324 (GRCm39)	T290N	probably damaging	Het
Gsdme	A	C	6: 50,196,391 (GRCm39)	S340A	probably benign	Het
Hivep2	T	C	10: 14,019,685 (GRCm39)	V2152A	possibly damaging	Het
Mamdc4	C	T	2: 25,455,785 (GRCm39)	S840N	probably benign	Het
Or5p59	A	G	7: 107,702,705 (GRCm39)	Y63C	possibly damaging	Het
Or8i2	G	A	2: 86,852,054 (GRCm39)	T278I	probably benign	Het
Pah	A	G	10: 87,357,866 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,284,917 (GRCm39)	S794T	probably damaging	Het
Plekhn1	T	C	4: 156,309,990 (GRCm39)	H108R	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Prkd1	A	T	12: 50,466,667 (GRCm39)		probably benign	Het
Pwp1	C	T	10: 85,723,993 (GRCm39)	P498L	possibly damaging	Het
Rasa4	A	G	5: 136,131,147 (GRCm39)	T414A	possibly damaging	Het
Rbm26	A	T	14: 105,378,706 (GRCm39)	L594I	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Sorcs3	A	G	19: 48,592,343 (GRCm39)	N336S	probably benign	Het
Sspo	A	T	6: 48,458,037 (GRCm39)	E3269V	possibly damaging	Het
Tlr4	A	G	4: 66,759,553 (GRCm39)	E782G	probably benign	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttl	T	C	2: 128,934,914 (GRCm39)	V358A	probably damaging	Het
Wdhd1	A	G	14: 47,481,258 (GRCm39)		probably null	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het
Zfp939	T	C	7: 39,122,792 (GRCm39)		noncoding transcript	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
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'- TAAATGGCCACTGTGGGTAG -3'
(R):5'- ACTGCTACAGTGGAGTCCTC -3'

Sequencing Primer
(F):5'- CCACTGTGGGTAGCCTCTG -3'
(R):5'- TACAGTGGAGTCCTCAGCCTC -3'

Posted On

2015-04-02