Mutagenetix > Incidental Mutation

Incidental Mutation 'R8244:Ptx4'

640887

Institutional Source

Beutler Lab

Gene Symbol

Ptx4

Ensembl Gene

ENSMUSG00000044172

Gene Name

pentraxin 4

Synonyms

1110018H23Rik

MMRRC Submission

067672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25339734-25344266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25341839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 105 (K105E)

Ref Sequence

ENSEMBL: ENSMUSP00000055984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054930]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054930
AA Change: K105E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055984
Gene: ENSMUSG00000044172
AA Change: K105E

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Blast:HOX	32	122	3e-35	BLAST
coiled coil region	147	182	N/A	INTRINSIC
Pfam:Pentaxin	271	460	7.3e-33	PFAM
Pfam:Laminin_G_3	277	440	2.4e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,004 (GRCm39)	I133T	probably damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Alg5	A	G	3: 54,646,221 (GRCm39)	I29V	probably benign	Het
Ankar	A	G	1: 72,690,183 (GRCm39)	I1216T	probably benign	Het
Ap5z1	A	T	5: 142,459,735 (GRCm39)	T462S	possibly damaging	Het
Apc2	A	T	10: 80,151,166 (GRCm39)	R2073S	probably damaging	Het
Apob	A	T	12: 8,060,548 (GRCm39)	E3010V	probably damaging	Het
Arid3c	T	G	4: 41,729,997 (GRCm39)	E66A	possibly damaging	Het
Atf7	A	G	15: 102,437,301 (GRCm39)	S54P	unknown	Het
Cbx3	C	T	6: 51,452,350 (GRCm39)	T55I	probably benign	Het
Clptm1	A	T	7: 19,372,916 (GRCm39)	F205I	possibly damaging	Het
Cramp1	T	A	17: 25,190,384 (GRCm39)	I1117F	probably damaging	Het
Dgkq	A	G	5: 108,796,578 (GRCm39)	*935Q	probably null	Het
Dock2	A	T	11: 34,586,280 (GRCm39)	F511I	probably damaging	Het
Efr3a	G	A	15: 65,687,217 (GRCm39)	R15H	probably damaging	Het
Ehmt2	A	G	17: 35,124,238 (GRCm39)	D385G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Gfpt1	T	A	6: 87,040,613 (GRCm39)		probably benign	Het
Gm21680	T	C	5: 26,173,983 (GRCm39)	E207G	probably damaging	Het
Igsf23	A	T	7: 19,675,798 (GRCm39)	C141S	possibly damaging	Het
Ktn1	A	T	14: 47,912,280 (GRCm39)	E349V	probably null	Het
Lrp1b	T	C	2: 41,396,794 (GRCm39)	D424G		Het
Lrrc9	A	G	12: 72,546,384 (GRCm39)	I1190V	probably benign	Het
Lztfl1	T	A	9: 123,541,514 (GRCm39)	I102F	probably damaging	Het
Mapk11	G	T	15: 89,030,007 (GRCm39)	T203K	possibly damaging	Het
Mgam	T	A	6: 40,727,520 (GRCm39)	I1315N	probably damaging	Het
Nf1	T	C	11: 79,331,750 (GRCm39)	M695T	probably benign	Het
Pdcd4	A	G	19: 53,895,965 (GRCm39)	T8A	probably benign	Het
Pramel27	T	C	4: 143,579,854 (GRCm39)	Y480H	probably damaging	Het
Pxn	C	T	5: 115,690,302 (GRCm39)	P381L	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,276 (GRCm39)	L236P	probably damaging	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sh2b2	G	T	5: 136,256,291 (GRCm39)	S247*	probably null	Het
Sim2	T	A	16: 93,910,222 (GRCm39)	V208E	probably damaging	Het
Slc44a4	T	C	17: 35,140,548 (GRCm39)	L247P	probably damaging	Het
Sox1	GGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGG	8: 12,446,468 (GRCm39)		probably benign	Het
Tacc2	A	G	7: 130,330,406 (GRCm39)	D1937G	probably damaging	Het
Tmem131	T	C	1: 36,847,974 (GRCm39)	N1158S	probably benign	Het
Tns1	G	T	1: 73,976,410 (GRCm39)	A1146E	probably damaging	Het
Tom1l1	T	C	11: 90,548,647 (GRCm39)	E308G	probably benign	Het
Ttn	T	A	2: 76,659,051 (GRCm39)	K12262*	probably null	Het
Vps13b	G	T	15: 35,917,349 (GRCm39)	G3731V	probably damaging	Het
Wdr20	G	A	12: 110,760,076 (GRCm39)	E321K	probably benign	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zfp979	A	T	4: 147,697,933 (GRCm39)	C259S	possibly damaging	Het
Zscan20	T	C	4: 128,479,759 (GRCm39)	T911A	probably benign	Het

Other mutations in Ptx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Ptx4	APN	17	25,344,022 (GRCm39)	missense	possibly damaging	0.81
IGL03373:Ptx4	APN	17	25,339,873 (GRCm39)	missense	probably benign	0.02
IGL03394:Ptx4	APN	17	25,343,649 (GRCm39)	missense	probably damaging	1.00
R0559:Ptx4	UTSW	17	25,342,082 (GRCm39)	nonsense	probably null
R3765:Ptx4	UTSW	17	25,341,842 (GRCm39)	missense	probably benign	0.02
R4629:Ptx4	UTSW	17	25,341,737 (GRCm39)	missense	probably damaging	1.00
R4677:Ptx4	UTSW	17	25,342,100 (GRCm39)	missense	probably benign	0.05
R4938:Ptx4	UTSW	17	25,342,139 (GRCm39)	nonsense	probably null
R5170:Ptx4	UTSW	17	25,342,152 (GRCm39)	missense	probably benign	0.01
R5517:Ptx4	UTSW	17	25,343,760 (GRCm39)	missense	possibly damaging	0.58
R6614:Ptx4	UTSW	17	25,341,676 (GRCm39)	missense	possibly damaging	0.70
R6993:Ptx4	UTSW	17	25,343,898 (GRCm39)	missense	possibly damaging	0.70
R7070:Ptx4	UTSW	17	25,341,971 (GRCm39)	missense	probably benign	0.04
R7230:Ptx4	UTSW	17	25,342,077 (GRCm39)	missense	possibly damaging	0.95
R7501:Ptx4	UTSW	17	25,344,166 (GRCm39)	missense	possibly damaging	0.95
R7845:Ptx4	UTSW	17	25,343,928 (GRCm39)	missense	possibly damaging	0.95
R8069:Ptx4	UTSW	17	25,341,753 (GRCm39)	missense	probably damaging	1.00
R8370:Ptx4	UTSW	17	25,342,314 (GRCm39)	missense	possibly damaging	0.90
R8388:Ptx4	UTSW	17	25,339,897 (GRCm39)	missense	probably damaging	0.99
R8798:Ptx4	UTSW	17	25,343,716 (GRCm39)	missense	probably damaging	1.00
R9140:Ptx4	UTSW	17	25,344,180 (GRCm39)	missense	probably damaging	1.00
R9166:Ptx4	UTSW	17	25,343,546 (GRCm39)	critical splice acceptor site	probably null
R9190:Ptx4	UTSW	17	25,342,257 (GRCm39)	missense	possibly damaging	0.90
R9225:Ptx4	UTSW	17	25,341,696 (GRCm39)	missense	probably benign	0.38
R9285:Ptx4	UTSW	17	25,343,930 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCCATAAGAGCTGTGTTC -3'
(R):5'- ACTTGCTGTGTAAGGCTGGC -3'

Sequencing Primer
(F):5'- CCATAAGAGCTGTGTTCTCTTTACAG -3'
(R):5'- TAAGGCTGGCCAGTGCATC -3'

Posted On

2020-07-28