Mutagenetix > Incidental Mutation

Incidental Mutation 'R8798:Ptx4'

671409

Institutional Source

Beutler Lab

Gene Symbol

Ptx4

Ensembl Gene

ENSMUSG00000044172

Gene Name

pentraxin 4

Synonyms

1110018H23Rik

MMRRC Submission

068724-MU

Accession Numbers

Essential gene?

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

Stock #

R8798 (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 25343716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 322 (D322G)

Ref Sequence

ENSEMBL: ENSMUSP00000055984 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000054930
AA Change: D322G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055984
Gene: ENSMUSG00000044172
AA Change: D322G

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	G	A	8: 79,937,380 (GRCm39)	R176*	probably null	Het
4921539E11Rik	A	C	4: 103,123,574 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,797,105 (GRCm39)	N492S	probably benign	Het
Acox1	T	C	11: 116,065,183 (GRCm39)	Y624C	probably damaging	Het
Aff4	T	C	11: 53,291,335 (GRCm39)		probably benign	Het
Ak9	T	A	10: 41,258,847 (GRCm39)	D781E		Het
Arfgef3	T	C	10: 18,522,799 (GRCm39)	D409G	probably damaging	Het
Arhgef18	T	A	8: 3,414,645 (GRCm39)	Y8N	probably benign	Het
Blnk	A	G	19: 40,950,795 (GRCm39)	Y119H	probably damaging	Het
Brsk2	T	C	7: 141,541,601 (GRCm39)	L310P	probably damaging	Het
Cgas	G	A	9: 78,350,348 (GRCm39)	R5C	probably benign	Het
Cit	T	A	5: 116,107,102 (GRCm39)	L1078Q	probably damaging	Het
Cpn1	A	T	19: 43,974,675 (GRCm39)	V18D	possibly damaging	Het
Csmd3	A	T	15: 47,595,382 (GRCm39)	Y1115N		Het
Dnah9	A	C	11: 65,796,057 (GRCm39)	V3589G	probably damaging	Het
Dpp9	T	C	17: 56,506,037 (GRCm39)	Y454C	probably damaging	Het
Eif3i	A	G	4: 129,490,717 (GRCm39)	V67A	probably benign	Het
Eif6	T	C	2: 155,664,886 (GRCm39)	N200S	probably damaging	Het
Fbxo10	T	C	4: 45,051,605 (GRCm39)	H502R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,047 (GRCm39)	Y50H	probably benign	Het
Filip1	G	A	9: 79,727,372 (GRCm39)	H416Y	possibly damaging	Het
Frmpd1	A	T	4: 45,285,424 (GRCm39)	N1415I	possibly damaging	Het
Gdpgp1	C	T	7: 79,888,725 (GRCm39)	P252L	probably damaging	Het
Gsap	T	C	5: 21,476,248 (GRCm39)		probably null	Het
Hgs	T	C	11: 120,370,938 (GRCm39)	V598A	probably benign	Het
Irf2	G	T	8: 47,260,349 (GRCm39)	V94L	probably benign	Het
Kalrn	G	T	16: 33,803,225 (GRCm39)	H2675Q	possibly damaging	Het
Klhl33	C	A	14: 51,130,565 (GRCm39)	A50S	possibly damaging	Het
Klk1b11	T	C	7: 43,645,372 (GRCm39)	I15T	probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrn3	A	G	12: 41,503,174 (GRCm39)	M381T	possibly damaging	Het
Ltbr	A	G	6: 125,284,258 (GRCm39)	Y395H	probably benign	Het
Ltf	A	G	9: 110,852,828 (GRCm39)		probably benign	Het
Ly75	A	G	2: 60,154,270 (GRCm39)	F1059S	probably benign	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Map1a	G	A	2: 121,132,768 (GRCm39)	V1195M	probably benign	Het
Mroh2b	A	T	15: 4,978,191 (GRCm39)	I1320F	probably damaging	Het
Mug2	A	G	6: 122,058,569 (GRCm39)	T1324A	probably damaging	Het
Mylk	G	A	16: 34,719,772 (GRCm39)	V562M	possibly damaging	Het
Myo15b	G	A	11: 115,754,232 (GRCm39)	G911R		Het
Neo1	A	G	9: 58,820,449 (GRCm39)	Y825H	probably damaging	Het
Nfat5	T	G	8: 108,074,321 (GRCm39)	V343G	probably damaging	Het
Nlrp2	A	T	7: 5,330,887 (GRCm39)	I503K	possibly damaging	Het
Or10d5	G	A	9: 39,862,013 (GRCm39)	T18I	probably benign	Het
Or13d1	C	A	4: 52,970,790 (GRCm39)	H56Q	possibly damaging	Het
Or5k16	A	T	16: 58,736,307 (GRCm39)	D232E	probably benign	Het
Or8d2	G	A	9: 38,760,213 (GRCm39)	E268K	probably benign	Het
Pdcl2	T	C	5: 76,472,947 (GRCm39)	D7G	probably damaging	Het
Phyh	C	T	2: 4,923,893 (GRCm39)	R5C	probably damaging	Het
Prr11	A	C	11: 86,996,881 (GRCm39)	S28A	unknown	Het
Psmd13	T	A	7: 140,477,663 (GRCm39)	L190*	probably null	Het
Rnf40	T	C	7: 127,188,954 (GRCm39)	L109P	probably damaging	Het
Rrp1	T	C	10: 78,245,024 (GRCm39)	T102A	probably damaging	Het
Sema4a	T	G	3: 88,344,004 (GRCm39)	D749A	possibly damaging	Het
Serpina3f	A	T	12: 104,183,702 (GRCm39)	D188V	probably benign	Het
Smarca5	C	A	8: 81,443,137 (GRCm39)	A570S	probably damaging	Het
Spocd1	G	C	4: 129,823,997 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,535,212 (GRCm39)	G3823D	probably benign	Het
Suco	A	G	1: 161,648,004 (GRCm39)	L1094S	probably damaging	Het
Tcf7	T	C	11: 52,151,421 (GRCm39)	D79G	probably damaging	Het
Tdrd12	A	G	7: 35,228,605 (GRCm39)	M39T	probably damaging	Het
Thnsl1	A	G	2: 21,217,209 (GRCm39)	N321S	probably benign	Het
Tmem132c	T	A	5: 127,437,217 (GRCm39)	Y235*	probably null	Het
Tnfaip6	T	C	2: 51,933,824 (GRCm39)	F60L	probably benign	Het
Tnpo3	T	C	6: 29,572,620 (GRCm39)	I411V	probably benign	Het
Trio	A	C	15: 27,851,923 (GRCm39)	V856G	possibly damaging	Het
Trpc2	C	G	7: 101,733,767 (GRCm39)	R239G	probably benign	Het
Ttn	C	T	2: 76,656,476 (GRCm39)	V12502I	unknown	Het
Usf3	A	G	16: 44,040,536 (GRCm39)	D1672G	probably damaging	Het
Usp24	A	G	4: 106,236,436 (GRCm39)	N1011S	probably benign	Het
Vac14	A	G	8: 111,446,519 (GRCm39)	E756G	probably benign	Het
Vmn2r41	A	G	7: 8,164,522 (GRCm39)	L10P	probably damaging	Het
Xrcc5	T	C	1: 72,353,337 (GRCm39)	M115T	probably damaging	Het
Zfp1006	G	A	8: 129,945,779 (GRCm39)	H349Y	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zmym1	A	T	4: 126,943,664 (GRCm39)	N241K	possibly 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
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
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
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'- GATCTGCCTCATGCTCAGAG -3'
(R):5'- TGGCTACTAACCTTCGGTCTATG -3'

Sequencing Primer
(F):5'- TGCCTCATGCTCAGAGCTGAC -3'
(R):5'- ACTAACCTTCGGTCTATGTGGAGC -3'

Posted On

2021-04-30