Mutagenetix > Incidental Mutation

Incidental Mutation 'R4222:Ptx3'

319385

Institutional Source

Beutler Lab

Gene Symbol

Ptx3

Ensembl Gene

ENSMUSG00000027832

Gene Name

pentraxin related gene

Synonyms

TSG-14, pentraxin 3

MMRRC Submission

041042-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R4222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66127331-66133226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66132127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 216 (T216I)

Ref Sequence

ENSEMBL: ENSMUSP00000029421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029419] [ENSMUST00000029421]

AlphaFold

P48759

Predicted Effect

probably benign
Transcript: ENSMUST00000029419

SMART Domains

Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
Blast:PH	586	626	1e-5	BLAST
PH	717	821	1.44e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000029421
AA Change: T216I

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

SMART Domains

Protein: ENSMUSP00000029421
Gene: ENSMUSG00000027832
AA Change: T216I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	123	144	N/A	INTRINSIC
PTX	175	381	5.82e-89	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182521

Meta Mutation Damage Score

0.3648

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

91% (49/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice display female subfertility due to abnormalities of the cumulus oophorus and are susceptible to invasive pulmonary aspergillosis associated with defective recognition of conidia by alveolar macrophages and dendritic cells and impaired induction of adaptive type 2 responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	G	17: 56,092,121 (GRCm39)	Y127C	probably damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Alkal1	A	G	1: 6,458,839 (GRCm39)	K76R	probably damaging	Het
Atm	T	C	9: 53,391,969 (GRCm39)	S1807G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm39)		noncoding transcript	Het
Brd10	A	T	19: 29,696,149 (GRCm39)	S1115T	probably benign	Het
Cyp3a11	A	T	5: 145,797,276 (GRCm39)	Y368N	probably damaging	Het
Gar1	A	T	3: 129,624,455 (GRCm39)		probably benign	Het
Gm5265	A	T	1: 169,281,370 (GRCm39)		noncoding transcript	Het
Gm7964	T	G	7: 83,406,030 (GRCm39)	N281K	probably damaging	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
H1f5	A	T	13: 21,964,147 (GRCm39)		probably benign	Het
Hapln4	T	A	8: 70,539,610 (GRCm39)	W214R	probably damaging	Het
Ift56	A	G	6: 38,372,010 (GRCm39)	Y200C	probably damaging	Het
Irgq	C	A	7: 24,233,050 (GRCm39)	A297D	possibly damaging	Het
Kri1	T	C	9: 21,192,359 (GRCm39)	E145G	probably benign	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Mrpl22	T	A	11: 58,062,693 (GRCm39)		probably benign	Het
Myo7a	T	A	7: 97,722,436 (GRCm39)	Q1163L	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm39)	D172E	probably benign	Het
Nrxn3	G	T	12: 89,499,762 (GRCm39)	G718*	probably null	Het
Olfm3	C	T	3: 114,883,820 (GRCm39)	Q41*	probably null	Het
Or52z12	A	G	7: 103,233,966 (GRCm39)	T246A	probably damaging	Het
Or8u8	G	T	2: 86,012,341 (GRCm39)	T38K	probably damaging	Het
Parm1	G	A	5: 91,741,726 (GRCm39)	M31I	probably benign	Het
Phc3	A	T	3: 30,990,968 (GRCm39)	S383R	probably damaging	Het
Pkn2	A	T	3: 142,499,627 (GRCm39)	L950*	probably null	Het
Plec	C	T	15: 76,061,519 (GRCm39)	R2671H	probably damaging	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Ptk7	A	T	17: 46,885,389 (GRCm39)	M679K	probably benign	Het
Rrp8	T	C	7: 105,383,229 (GRCm39)	I346V	possibly damaging	Het
Rsrc1	A	G	3: 66,901,900 (GRCm39)	K17E	unknown	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Semp2l2a	T	C	8: 13,888,061 (GRCm39)	E10G	probably benign	Het
Slc25a45	A	T	19: 5,930,146 (GRCm39)	I39F	probably damaging	Het
Spag5	G	A	11: 78,195,337 (GRCm39)	V215I	probably damaging	Het
Ston1	A	G	17: 88,944,199 (GRCm39)	Y535C	probably damaging	Het
Tbc1d14	A	T	5: 36,650,452 (GRCm39)	S395T	probably benign	Het
Tlr11	C	T	14: 50,599,306 (GRCm39)	P431S	probably damaging	Het
Trerf1	G	T	17: 47,625,727 (GRCm39)		noncoding transcript	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Vmn1r49	A	G	6: 90,049,228 (GRCm39)	F258S	probably benign	Het
Vmn1r-ps103	C	A	13: 22,626,198 (GRCm39)		noncoding transcript	Het
Vmn2r14	A	G	5: 109,364,149 (GRCm39)	M589T	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Zbtb5	A	G	4: 44,993,855 (GRCm39)		probably null	Het
Zfp35	T	G	18: 24,136,246 (GRCm39)	F197V	possibly damaging	Het

Other mutations in Ptx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02877:Ptx3	APN	3	66,132,196 (GRCm39)	missense	probably damaging	1.00
R0674:Ptx3	UTSW	3	66,132,148 (GRCm39)	missense	probably damaging	1.00
R1966:Ptx3	UTSW	3	66,132,042 (GRCm39)	missense	probably damaging	1.00
R2114:Ptx3	UTSW	3	66,132,187 (GRCm39)	missense	probably damaging	1.00
R2116:Ptx3	UTSW	3	66,132,187 (GRCm39)	missense	probably damaging	1.00
R3717:Ptx3	UTSW	3	66,132,376 (GRCm39)	missense	probably benign	0.01
R4898:Ptx3	UTSW	3	66,132,412 (GRCm39)	missense	probably damaging	1.00
R5426:Ptx3	UTSW	3	66,128,143 (GRCm39)	missense	probably damaging	0.99
R5942:Ptx3	UTSW	3	66,127,484 (GRCm39)	start codon destroyed	probably null	1.00
R6061:Ptx3	UTSW	3	66,132,130 (GRCm39)	missense	possibly damaging	0.95
R6216:Ptx3	UTSW	3	66,132,265 (GRCm39)	missense	probably damaging	1.00
R7165:Ptx3	UTSW	3	66,132,391 (GRCm39)	missense	probably benign	0.03
R7253:Ptx3	UTSW	3	66,132,368 (GRCm39)	missense	probably benign	0.03
R8411:Ptx3	UTSW	3	66,132,201 (GRCm39)	missense	probably benign	0.14
R8458:Ptx3	UTSW	3	66,128,419 (GRCm39)	missense	probably benign	0.02
R8958:Ptx3	UTSW	3	66,128,391 (GRCm39)	missense	probably benign	0.11
R9046:Ptx3	UTSW	3	66,132,153 (GRCm39)	missense	probably damaging	0.99
Z1176:Ptx3	UTSW	3	66,128,256 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCCCCATGAGTCATAACACAG -3'
(R):5'- TTGGCCATCTCTACAGTGGTAG -3'

Sequencing Primer
(F):5'- TCCAGGTTGTGAAACAGC -3'
(R):5'- TGCTCTGAACTCCAGGTGC -3'

Posted On

2015-06-10