Mutagenetix > Incidental Mutation

Incidental Mutation 'R7501:Ptx4'

581504

Institutional Source

Beutler Lab

Gene Symbol

Ptx4

Ensembl Gene

ENSMUSG00000044172

Gene Name

pentraxin 4

Synonyms

1110018H23Rik

MMRRC Submission

045574-MU

Accession Numbers

Essential gene?

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

Stock #

R7501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25339734-25344266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25344166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 472 (T472I)

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: T472I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055984
Gene: ENSMUSG00000044172
AA Change: T472I

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	G	3: 36,142,974 (GRCm39)	N503S	probably benign	Het
Adam1a	C	T	5: 121,657,011 (GRCm39)	A761T	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd44	T	C	1: 54,688,522 (GRCm39)	E238G		Het
Ap3b2	A	T	7: 81,123,194 (GRCm39)	I440K	probably damaging	Het
Atp2a1	G	A	7: 126,049,344 (GRCm39)	T566I	probably benign	Het
B3galnt1	T	C	3: 69,482,632 (GRCm39)	I210V	probably benign	Het
Bag5	T	C	12: 111,676,722 (GRCm39)	K367R	probably benign	Het
Cdc25b	T	C	2: 131,036,080 (GRCm39)	Y410H	probably damaging	Het
Cgref1	G	T	5: 31,102,800 (GRCm39)	P7Q	probably damaging	Het
Cnot6	T	C	11: 49,576,159 (GRCm39)	I136V	probably benign	Het
Comp	A	G	8: 70,832,059 (GRCm39)	D500G	possibly damaging	Het
Dnah7b	T	C	1: 46,395,714 (GRCm39)	L3872P	probably damaging	Het
Dync2h1	A	T	9: 7,175,336 (GRCm39)	L91Q	possibly damaging	Het
Fancd2	T	C	6: 113,525,364 (GRCm39)	V280A	possibly damaging	Het
Fat4	T	A	3: 39,012,597 (GRCm39)	Y2297*	probably null	Het
Fem1c	A	T	18: 46,638,868 (GRCm39)	M378K	probably damaging	Het
Gata6	A	G	18: 11,054,082 (GRCm39)	T4A	probably damaging	Het
Gatb	G	C	3: 85,544,297 (GRCm39)	V422L	probably damaging	Het
Gfpt1	T	A	6: 87,059,508 (GRCm39)	D510E	probably benign	Het
Gria4	A	T	9: 4,502,436 (GRCm39)	Y366N	probably benign	Het
Gucy1b1	T	C	3: 81,942,666 (GRCm39)	H492R	probably damaging	Het
H2bc6	A	G	13: 23,769,776 (GRCm39)	I55T	possibly damaging	Het
Hecw2	T	C	1: 53,953,031 (GRCm39)		probably null	Het
Hnrnph1	A	C	11: 50,270,383 (GRCm39)	E62D	probably benign	Het
Itga2	A	G	13: 115,012,095 (GRCm39)	V274A	probably damaging	Het
Kdm5d	T	A	Y: 941,488 (GRCm39)	W1230R	probably damaging	Het
Lctl	A	T	9: 64,038,861 (GRCm39)	M317L	probably benign	Het
Lrp6	T	C	6: 134,463,471 (GRCm39)	D570G	probably damaging	Het
Lrrc9	G	T	12: 72,496,490 (GRCm39)	M39I	probably damaging	Het
Ltbp2	A	T	12: 84,877,419 (GRCm39)	I402N	probably damaging	Het
Mst1	G	A	9: 107,959,748 (GRCm39)	G297D	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nbr1	G	A	11: 101,457,026 (GRCm39)	R163Q	probably damaging	Het
Nlrp4f	A	G	13: 65,342,143 (GRCm39)	F501L	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Oacyl	T	G	18: 65,858,369 (GRCm39)		probably null	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,326,203 (GRCm39)	R46C	possibly damaging	Het
Ppp1r26	T	A	2: 28,340,749 (GRCm39)	D126E	probably damaging	Het
Prl6a1	A	T	13: 27,500,282 (GRCm39)	R84S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,746 (GRCm39)	Q1279*	probably null	Het
Rabgap1l	A	G	1: 160,528,358 (GRCm39)	V416A	probably damaging	Het
Rbfox2	A	T	15: 76,989,834 (GRCm39)	D231E	probably benign	Het
Reln	A	T	5: 22,432,636 (GRCm39)	F121L	possibly damaging	Het
Rfx7	G	A	9: 72,524,054 (GRCm39)	V415I	probably benign	Het
Scaf4	A	T	16: 90,026,964 (GRCm39)	M951K	unknown	Het
Sdf4	T	C	4: 156,080,977 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,331,863 (GRCm39)	T51A	probably damaging	Het
Sema3a	A	G	5: 13,607,008 (GRCm39)	N281S	probably damaging	Het
Snai2	G	A	16: 14,524,754 (GRCm39)	V87I	possibly damaging	Het
Spata31f1e	T	C	4: 42,791,357 (GRCm39)	E925G	probably damaging	Het
Synj2	T	A	17: 6,040,514 (GRCm39)	S197T	possibly damaging	Het
Syt6	A	T	3: 103,495,018 (GRCm39)	M328L	probably benign	Het
Tdrd12	A	G	7: 35,177,516 (GRCm39)	V946A	unknown	Het
Trat1	A	T	16: 48,574,657 (GRCm39)		probably null	Het
Vmn1r75	T	A	7: 11,614,997 (GRCm39)	I243K	possibly damaging	Het
Vmn2r83	G	A	10: 79,327,771 (GRCm39)	C793Y	probably damaging	Het
Wnt9a	G	A	11: 59,219,583 (GRCm39)	G203D	probably damaging	Het
Xrn2	T	C	2: 146,871,676 (GRCm39)	I366T	probably damaging	Het
Zfp280d	A	G	9: 72,269,224 (GRCm39)	D787G	possibly damaging	Het
Zfp706	T	C	15: 37,002,169 (GRCm39)	T53A	probably damaging	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
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
R8244:Ptx4	UTSW	17	25,341,839 (GRCm39)	missense	possibly damaging	0.87
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'- TTGACAGCTCTGAGGCCTTC -3'
(R):5'- GCTCCTACATCAGAGTGCAG -3'

Sequencing Primer
(F):5'- AGGCCTTCGTAGGGAGCATATC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2019-10-17