Mutagenetix > Incidental Mutation

Incidental Mutation 'R1966:Ptx3'

218927

Institutional Source

Beutler Lab

Gene Symbol

Ptx3

Ensembl Gene

ENSMUSG00000027832

Gene Name

pentraxin related gene

Synonyms

TSG-14, pentraxin 3

MMRRC Submission

039979-MU

Accession Numbers

Essential gene?

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

Stock #

R1966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66127331-66133226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66132042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 188 (R188C)

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: R188C

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

SMART Domains

Protein: ENSMUSP00000029421
Gene: ENSMUSG00000027832
AA Change: R188C

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,650 (GRCm39)	V185E	probably benign	Het
Abca1	A	C	4: 53,050,409 (GRCm39)	V1608G	probably damaging	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arhgef15	G	T	11: 68,845,501 (GRCm39)	P117Q	probably damaging	Het
Arhgef39	T	C	4: 43,496,710 (GRCm39)	S335G	probably benign	Het
Blm	A	T	7: 80,162,934 (GRCm39)	F139Y	possibly damaging	Het
Cacna2d1	C	T	5: 16,538,783 (GRCm39)	R581*	probably null	Het
Cadps	C	A	14: 12,822,450 (GRCm38)	E97*	probably null	Het
Cavin2	T	A	1: 51,328,801 (GRCm39)	L86Q	probably damaging	Het
Ccdc136	A	G	6: 29,418,091 (GRCm39)	E787G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cdh23	T	C	10: 60,159,361 (GRCm39)	Y2138C	probably damaging	Het
Cdk12	T	A	11: 98,094,916 (GRCm39)	Y241*	probably null	Het
Clcn4	T	A	7: 7,287,184 (GRCm39)	*688L	probably null	Het
Cntnap1	T	C	11: 101,071,212 (GRCm39)	V375A	possibly damaging	Het
Coq5	T	A	5: 115,432,890 (GRCm39)		probably null	Het
Cyp4b1	A	G	4: 115,483,076 (GRCm39)	I405T	probably benign	Het
Det1	T	C	7: 78,492,966 (GRCm39)	Y346C	probably damaging	Het
Enpp3	A	T	10: 24,683,389 (GRCm39)	V276E	probably damaging	Het
Epb41l2	G	A	10: 25,317,666 (GRCm39)	R61Q	probably benign	Het
Fam76b	G	A	9: 13,739,362 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,052,048 (GRCm39)	D238E	probably benign	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gnao1	C	A	8: 94,670,827 (GRCm39)	T102K	probably benign	Het
Gpatch2	T	A	1: 187,054,498 (GRCm39)	D76E	probably damaging	Het
Gpd1l	A	G	9: 114,743,462 (GRCm39)	I146T	probably benign	Het
Grik2	A	T	10: 49,232,005 (GRCm39)	H508Q	probably damaging	Het
Hapstr1	A	G	16: 8,648,445 (GRCm39)	E41G	possibly damaging	Het
Hk3	A	T	13: 55,162,268 (GRCm39)	F112Y	probably damaging	Het
Hmcn2	T	G	2: 31,279,341 (GRCm39)	I1781S	probably damaging	Het
Inhba	A	T	13: 16,201,221 (GRCm39)	K261M	probably damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcna2	T	C	3: 107,011,946 (GRCm39)	S176P	probably damaging	Het
Kcnj3	A	T	2: 55,327,343 (GRCm39)	Q44L	probably damaging	Het
Kcns1	G	T	2: 164,010,455 (GRCm39)	F101L	probably damaging	Het
Kdm5b	T	A	1: 134,541,611 (GRCm39)		probably null	Het
Klhl14	C	T	18: 21,687,730 (GRCm39)	G564D	probably damaging	Het
Klhl18	A	T	9: 110,305,658 (GRCm39)	V2E	probably benign	Het
Klhl6	T	C	16: 19,801,572 (GRCm39)	E61G	probably damaging	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lama5	C	A	2: 179,830,145 (GRCm39)	C1896F	probably damaging	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Lrch3	A	G	16: 32,734,755 (GRCm39)	T82A	possibly damaging	Het
Maml3	C	G	3: 52,011,560 (GRCm39)	G2A	unknown	Het
Mapkap1	T	A	2: 34,408,691 (GRCm39)	N34K	probably damaging	Het
Muc13	A	T	16: 33,634,909 (GRCm39)	I488F	probably damaging	Het
Muc5ac	A	G	7: 141,357,113 (GRCm39)	D1129G	possibly damaging	Het
Nacc1	A	T	8: 85,403,010 (GRCm39)	N288K	probably damaging	Het
Nek1	T	G	8: 61,469,330 (GRCm39)	I129R	probably damaging	Het
Nf1	T	A	11: 79,302,390 (GRCm39)	S319R	possibly damaging	Het
Nle1	C	T	11: 82,792,614 (GRCm39)	G432D	probably damaging	Het
Nol4l	A	G	2: 153,371,375 (GRCm39)	V103A	probably benign	Het
Oca2	A	G	7: 56,064,215 (GRCm39)	I737V	probably damaging	Het
Or12k5	A	T	2: 36,894,960 (GRCm39)	F222Y	possibly damaging	Het
Or1j17	G	A	2: 36,578,796 (GRCm39)	V261I	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or51l4	G	T	7: 103,404,375 (GRCm39)	T139K	probably damaging	Het
Or52ac1	A	G	7: 104,246,008 (GRCm39)	C127R	probably damaging	Het
Or6k6	G	T	1: 173,944,817 (GRCm39)	S255*	probably null	Het
Or6s1	T	A	14: 51,308,614 (GRCm39)	I79F	probably damaging	Het
Orc1	T	A	4: 108,469,414 (GRCm39)	I746N	probably damaging	Het
Pbxip1	A	G	3: 89,352,795 (GRCm39)	D147G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plin5	T	A	17: 56,419,186 (GRCm39)	D412V	probably damaging	Het
Plxna2	A	T	1: 194,327,008 (GRCm39)	Y314F	possibly damaging	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Prss38	T	C	11: 59,264,310 (GRCm39)	Y219C	probably damaging	Het
Ralgds	T	A	2: 28,435,887 (GRCm39)	V504E	probably damaging	Het
Rere	T	C	4: 150,701,330 (GRCm39)	Y1237H	probably damaging	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Rrp15	C	T	1: 186,468,402 (GRCm39)	V205I	possibly damaging	Het
Scpep1	A	G	11: 88,843,240 (GRCm39)	W73R	probably damaging	Het
Sec23ip	A	G	7: 128,357,077 (GRCm39)	H376R	probably damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Shtn1	T	G	19: 58,963,470 (GRCm39)	Y615S	probably benign	Het
Slc20a2	C	A	8: 23,035,553 (GRCm39)	P184T	probably damaging	Het
Slc22a29	C	A	19: 8,195,772 (GRCm39)	R89L	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Tas2r122	A	T	6: 132,688,157 (GRCm39)	Y245*	probably null	Het
Ticrr	C	A	7: 79,344,483 (GRCm39)	C1449*	probably null	Het
Tmem181a	T	C	17: 6,353,501 (GRCm39)	V412A	probably benign	Het
Tmtc4	T	A	14: 123,165,011 (GRCm39)	E616V	probably benign	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Trpm8	T	A	1: 88,260,470 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,265,845 (GRCm39)	T1163A	probably benign	Het
Ubr4	A	G	4: 139,178,555 (GRCm39)		probably null	Het
Ulk2	A	T	11: 61,710,297 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,086,182 (GRCm39)	M350L	probably benign	Het
Vmn1r185	T	C	7: 26,310,956 (GRCm39)	E183G	probably benign	Het
Vmn1r76	T	A	7: 11,664,441 (GRCm39)	I223F	probably damaging	Het
Wdr27	T	C	17: 15,154,861 (GRCm39)	T19A	possibly damaging	Het
Wdr59	T	G	8: 112,177,535 (GRCm39)	T973P	possibly damaging	Het
Wnk2	A	G	13: 49,192,487 (GRCm39)	S664P	probably damaging	Het
Zfp1004	T	A	2: 150,033,827 (GRCm39)	D49E	probably benign	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp30	C	A	7: 29,491,877 (GRCm39)	Q44K	probably benign	Het
Zfp541	T	C	7: 15,812,996 (GRCm39)	S550P	probably benign	Het
Zw10	C	A	9: 48,980,133 (GRCm39)	N421K	probably 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
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
R4222:Ptx3	UTSW	3	66,132,127 (GRCm39)	missense	probably damaging	1.00
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'- AGTTGCTTTACTGAATAAGCCAAGC -3'
(R):5'- CAACACTAGGGACTGGGAAC -3'

Sequencing Primer
(F):5'- ACTTTTACTTTCTTTGCTCTGTAGAG -3'
(R):5'- CTGAGGTACAGCTGAATCTCATAG -3'

Posted On

2014-08-25