Mutagenetix > Incidental Mutation

Incidental Mutation 'R8288:Mptx2'

638512

Institutional Source

Beutler Lab

Gene Symbol

Mptx2

Ensembl Gene

ENSMUSG00000079180

Gene Name

mucosal pentraxin 2

Synonyms

Gm11062

MMRRC Submission

067710-MU

Accession Numbers

Essential gene?

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

Stock #

R8288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173102028-173105323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 173102356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 111 (V111A)

Ref Sequence

ENSEMBL: ENSMUSP00000106855 (fasta)

Gene Model

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

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: V111A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180
AA Change: V111A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	C	T	8: 23,283,153 (GRCm39)	A200T	probably benign	Het
Arpp19	T	C	9: 74,944,914 (GRCm39)	M1T	probably null	Het
Baiap2	T	A	11: 119,888,465 (GRCm39)	V407E	probably damaging	Het
Cdh18	A	G	15: 23,446,073 (GRCm39)	T508A	probably damaging	Het
Cnnm3	C	A	1: 36,551,074 (GRCm39)	A28E	possibly damaging	Het
Cpb1	A	T	3: 20,319,531 (GRCm39)	C184*	probably null	Het
Ddb1	T	C	19: 10,585,712 (GRCm39)	V142A	probably benign	Het
Disp2	T	C	2: 118,620,762 (GRCm39)	V498A	probably damaging	Het
Dmgdh	T	C	13: 93,845,332 (GRCm39)	Y442H	probably damaging	Het
Dync2i1	A	G	12: 116,177,345 (GRCm39)	F811S	probably damaging	Het
Eef2k	T	A	7: 120,502,604 (GRCm39)	M722K	probably damaging	Het
Erbb4	A	G	1: 68,337,509 (GRCm39)	F603S	probably damaging	Het
Filip1l	C	T	16: 57,390,917 (GRCm39)	R502C	probably damaging	Het
Gbp9	C	T	5: 105,253,599 (GRCm39)	V39M	probably damaging	Het
Gm17079	T	C	14: 51,931,815 (GRCm39)	Y98C		Het
Gstz1	A	G	12: 87,194,604 (GRCm39)	M1V	probably null	Het
Hsd17b13	T	G	5: 104,111,701 (GRCm39)	I281L	probably benign	Het
Hydin	A	G	8: 111,233,661 (GRCm39)	E1833G	probably damaging	Het
Irs1	G	A	1: 82,265,682 (GRCm39)	Q845*	probably null	Het
Kctd11	C	T	11: 69,770,883 (GRCm39)	G52R	probably damaging	Het
Kit	T	C	5: 75,815,149 (GRCm39)	S962P	probably damaging	Het
Lrrn1	C	T	6: 107,543,955 (GRCm39)		probably benign	Het
Mastl	T	C	2: 23,023,371 (GRCm39)	K451E	probably damaging	Het
Nuak2	G	T	1: 132,255,579 (GRCm39)	C178F	probably damaging	Het
Pah	G	A	10: 87,374,047 (GRCm39)	R71H	probably benign	Het
Pclo	C	A	5: 14,762,885 (GRCm39)	T501K		Het
Pla2g4e	C	T	2: 120,018,990 (GRCm39)		probably null	Het
Polq	A	G	16: 36,848,272 (GRCm39)	E293G	probably damaging	Het
Rptor	G	A	11: 119,748,763 (GRCm39)	E782K	probably benign	Het
Scn7a	T	A	2: 66,506,318 (GRCm39)	R1524W	probably damaging	Het
Slc4a5	T	C	6: 83,203,237 (GRCm39)	S46P	probably benign	Het
Srcap	T	A	7: 127,130,528 (GRCm39)	I664N	probably damaging	Het
Stk24	A	C	14: 121,530,841 (GRCm39)	F372V	possibly damaging	Het
Szt2	T	C	4: 118,246,973 (GRCm39)	S881G	probably damaging	Het
Trim40	T	C	17: 37,194,210 (GRCm39)	D161G	probably benign	Het
Trip11	T	C	12: 101,860,643 (GRCm39)	H234R	possibly damaging	Het
Trpc1	T	C	9: 95,603,434 (GRCm39)	K366R	probably damaging	Het
Ugt2b35	T	C	5: 87,149,316 (GRCm39)	L189P	probably damaging	Het
Unc80	A	G	1: 66,512,509 (GRCm39)	S140G	probably benign	Het
Zfp446	A	G	7: 12,711,885 (GRCm39)	E36G	probably benign	Het
Zfp738	T	A	13: 67,818,908 (GRCm39)	H361L	possibly damaging	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
R6124: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
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'- TGCACCTCTTTTATGGGGAC -3'
(R):5'- TGTATAAAGGCCTTCACAGACC -3'

Sequencing Primer
(F):5'- GGGACCACATAGTTCCACAAGG -3'
(R):5'- AGACCTGACTCGCCCTTATAG -3'

Posted On

2020-07-28