Mutagenetix > Incidental Mutation

Incidental Mutation 'R6124:Mptx2'

485855

Institutional Source

Beutler Lab

Gene Symbol

Mptx2

Ensembl Gene

ENSMUSG00000079180

Gene Name

mucosal pentraxin 2

Synonyms

Gm11062

MMRRC Submission

044271-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6124 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173102028-173105323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173102414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 92 (L92F)

Ref Sequence

ENSEMBL: ENSMUSP00000106855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059754] [ENSMUST00000111224] [ENSMUST00000213420]

AlphaFold

D3YYJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000059754

SMART Domains

Protein: ENSMUSP00000052418
Gene: ENSMUSG00000049605

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.6e-55	PFAM
Pfam:7tm_1	41	289	5.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111224
AA Change: L92F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180
AA Change: L92F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PTX	20	219	1.93e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213420

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,622 (GRCm39)	N864S	probably benign	Het
Ank2	C	T	3: 127,041,800 (GRCm39)	V35M	probably benign	Het
Apc2	T	C	10: 80,142,185 (GRCm39)	M368T	probably damaging	Het
Atp8b3	G	A	10: 80,365,515 (GRCm39)	T413M	probably damaging	Het
Cxcr4	A	G	1: 128,517,397 (GRCm39)	L86P	probably damaging	Het
Cyfip1	A	G	7: 55,547,691 (GRCm39)	Y598C	probably benign	Het
Epg5	A	G	18: 78,073,260 (GRCm39)	N2428D	probably benign	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm5422	A	G	10: 31,125,396 (GRCm39)		noncoding transcript	Het
Gm9913	T	A	2: 125,348,393 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,201,728 (GRCm39)	N287S	probably benign	Het
Hook3	A	T	8: 26,549,300 (GRCm39)	N181K	probably benign	Het
Hormad1	A	G	3: 95,483,613 (GRCm39)	T142A	probably benign	Het
Klrh1	A	T	6: 129,745,098 (GRCm39)	F166Y	probably benign	Het
Kplce	G	T	3: 92,776,365 (GRCm39)	P106Q	probably damaging	Het
Lonrf1	T	A	8: 36,696,354 (GRCm39)	N565I	probably damaging	Het
Mast1	A	G	8: 85,651,936 (GRCm39)	S349P	probably benign	Het
Mcee	T	A	7: 64,050,023 (GRCm39)	N51K	probably damaging	Het
Mfsd6	A	C	1: 52,747,411 (GRCm39)	F485V	probably damaging	Het
Nlrp6	T	A	7: 140,503,160 (GRCm39)	V422E	probably damaging	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Nsd2	T	A	5: 34,000,610 (GRCm39)	H42Q	probably benign	Het
Obscn	A	T	11: 58,969,870 (GRCm39)	S91T	probably benign	Het
Or10ak13	C	A	4: 118,639,392 (GRCm39)	C130F	probably damaging	Het
Or10j2	T	A	1: 173,097,846 (GRCm39)	Y35N	probably damaging	Het
Or13a20	A	T	7: 140,232,507 (GRCm39)	D205V	probably damaging	Het
Or5p72	A	T	7: 108,022,725 (GRCm39)		probably null	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or6d15	T	C	6: 116,559,446 (GRCm39)	I154V	probably benign	Het
Papss2	T	A	19: 32,614,528 (GRCm39)	N81K	probably damaging	Het
Plekhn1	A	G	4: 156,309,696 (GRCm39)	I147T	possibly damaging	Het
Ptgfrn	C	T	3: 100,980,405 (GRCm39)	E312K	probably damaging	Het
Serpinb1b	T	C	13: 33,277,796 (GRCm39)	V343A	probably benign	Het
Sis	T	C	3: 72,860,544 (GRCm39)	N261S	possibly damaging	Het
Slc41a2	T	C	10: 83,133,116 (GRCm39)	N310S	probably damaging	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Snrnp48	T	A	13: 38,400,439 (GRCm39)	I182N	possibly damaging	Het
Tppp2	A	T	14: 52,156,937 (GRCm39)	T105S	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vmn1r19	A	C	6: 57,381,602 (GRCm39)	M52L	probably benign	Het
Vmn2r94	T	A	17: 18,464,321 (GRCm39)	R656S	probably benign	Het

Other mutations in Mptx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Mptx2	APN	1	173,102,455 (GRCm39)	missense	probably damaging	1.00
IGL01737:Mptx2	APN	1	173,102,408 (GRCm39)	missense	probably damaging	0.99
IGL02212:Mptx2	APN	1	173,102,248 (GRCm39)	missense	possibly damaging	0.69
IGL03185:Mptx2	APN	1	173,102,356 (GRCm39)	missense	possibly damaging	0.68
R1772:Mptx2	UTSW	1	173,102,040 (GRCm39)	missense	probably damaging	0.98
R2070:Mptx2	UTSW	1	173,102,145 (GRCm39)	nonsense	probably null
R3792:Mptx2	UTSW	1	173,102,240 (GRCm39)	missense	probably damaging	1.00
R5673:Mptx2	UTSW	1	173,102,414 (GRCm39)	missense	probably benign	0.05
R5700:Mptx2	UTSW	1	173,102,414 (GRCm39)	missense	probably benign	0.05
R5701:Mptx2	UTSW	1	173,102,414 (GRCm39)	missense	probably benign	0.05
R6110:Mptx2	UTSW	1	173,102,414 (GRCm39)	missense	probably benign	0.05
R6118:Mptx2	UTSW	1	173,102,414 (GRCm39)	missense	probably benign	0.05
R6738:Mptx2	UTSW	1	173,102,422 (GRCm39)	missense	probably benign	0.05
R6895:Mptx2	UTSW	1	173,105,252 (GRCm39)	missense	probably benign
R8288:Mptx2	UTSW	1	173,102,356 (GRCm39)	missense	probably benign	0.00
R8737:Mptx2	UTSW	1	173,105,256 (GRCm39)	missense	probably benign	0.00
R8857:Mptx2	UTSW	1	173,102,452 (GRCm39)	missense	probably benign	0.32
R9070:Mptx2	UTSW	1	173,102,119 (GRCm39)	missense	probably benign	0.01
RF001:Mptx2	UTSW	1	173,102,536 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAATGATCTTTGCATCACCCC -3'
(R):5'- TTCCTCTCCATAGACATGAAGGG -3'

Sequencing Primer
(F):5'- CCCACCACGTATCCCTTCTTCAAG -3'
(R):5'- TCAAGAATCATCCACTGCCTATGTG -3'

Posted On

2017-08-16