Mutagenetix > Incidental Mutation

Incidental Mutation 'R5700:Mptx2'

450826

Institutional Source

Beutler Lab

Gene Symbol

Mptx2

Ensembl Gene

ENSMUSG00000079180

Gene Name

mucosal pentraxin 2

Synonyms

Gm11062

MMRRC Submission

043328-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173274382-173277777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173274847 bp (GRCm38)

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,798,194	Q155L	probably benign	Het
Acadvl	A	C	11: 70,013,203	Y242D	probably damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Barx2	A	T	9: 31,858,765	F156I	probably damaging	Het
Best1	T	C	19: 9,997,199		probably benign	Het
Btbd8	T	C	5: 107,503,648	S136P	possibly damaging	Het
Btla	T	A	16: 45,250,573	Y298*	probably null	Het
Casr	T	A	16: 36,509,617	I452F	probably damaging	Het
Ccser1	C	A	6: 61,311,276	P141H	probably benign	Het
Cr2	A	G	1: 195,159,757	V296A	probably damaging	Het
Csl	T	A	10: 99,759,015	I63F	probably damaging	Het
Dbt	G	A	3: 116,520,303	V40M	probably damaging	Het
Fam53b	A	T	7: 132,760,020	L93Q	probably damaging	Het
Fdps	T	C	3: 89,095,649	I105V	probably damaging	Het
Gm4884	A	G	7: 41,043,219	D204G	probably benign	Het
Gm5592	A	G	7: 41,158,579		probably benign	Het
Gm7367	A	T	7: 60,155,762		noncoding transcript	Het
Grid2	T	A	6: 64,094,432	V413D	possibly damaging	Het
Hgf	C	T	5: 16,610,124	P471L	probably damaging	Het
Hoxc9	T	C	15: 102,981,881	Y77H	possibly damaging	Het
Hs6st3	C	T	14: 119,138,787	R125*	probably null	Het
Kdm4b	T	C	17: 56,351,700	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,518,040	N93S	probably benign	Het
Klhl6	G	A	16: 19,957,218	Q197*	probably null	Het
Medag	T	C	5: 149,422,217	V7A	probably benign	Het
Nckap5	C	T	1: 125,976,925		probably null	Het
Obscn	T	C	11: 59,133,194	K550R	probably benign	Het
Olfr1369-ps1	T	A	13: 21,116,001	V103E	probably damaging	Het
Olfr193	T	A	16: 59,109,993	I206F	probably damaging	Het
Olfr716	A	G	7: 107,147,541	N75S	probably benign	Het
Olfr8	T	C	10: 78,955,484	I93T	probably damaging	Het
Parp6	T	C	9: 59,624,727	S101P	probably damaging	Het
Plcd3	T	C	11: 103,073,763	N594S	probably benign	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Ppp2r1b	T	C	9: 50,878,157	Y443H	probably damaging	Het
Pqlc2	C	T	4: 139,300,254	S259N	probably damaging	Het
Prnd	G	A	2: 131,953,343	V128I	probably benign	Het
Rftn1	G	T	17: 50,002,669	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,516,946	V445A	probably benign	Het
Serpinb6c	A	T	13: 33,899,308	M41K	probably damaging	Het
Spns1	A	G	7: 126,372,469	V303A	possibly damaging	Het
Ston1	T	A	17: 88,644,339	S639R	probably damaging	Het
Thbs4	T	C	13: 92,776,953	D153G	probably benign	Het
Timm44	T	C	8: 4,274,171	Y36C	probably damaging	Het
Trim34b	G	T	7: 104,336,411	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,670,423	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084	V412A	probably benign	Het
Zfand1	T	A	3: 10,341,019	N210I	probably damaging	Het
Zfhx3	A	G	8: 108,933,867	H1251R	probably damaging	Het

Other mutations in Mptx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Mptx2	APN	1	173274888	missense	probably damaging	1.00
IGL01737:Mptx2	APN	1	173274841	missense	probably damaging	0.99
IGL02212:Mptx2	APN	1	173274681	missense	possibly damaging	0.69
IGL03185:Mptx2	APN	1	173274789	missense	possibly damaging	0.68
R1772:Mptx2	UTSW	1	173274473	missense	probably damaging	0.98
R2070:Mptx2	UTSW	1	173274578	nonsense	probably null
R3792:Mptx2	UTSW	1	173274673	missense	probably damaging	1.00
R5673:Mptx2	UTSW	1	173274847	missense	probably benign	0.05
R5701:Mptx2	UTSW	1	173274847	missense	probably benign	0.05
R6110:Mptx2	UTSW	1	173274847	missense	probably benign	0.05
R6118:Mptx2	UTSW	1	173274847	missense	probably benign	0.05
R6124:Mptx2	UTSW	1	173274847	missense	probably benign	0.05
R6738:Mptx2	UTSW	1	173274855	missense	probably benign	0.05
R6895:Mptx2	UTSW	1	173277685	missense	probably benign
R8288:Mptx2	UTSW	1	173274789	missense	probably benign	0.00
R8737:Mptx2	UTSW	1	173277689	missense	probably benign	0.00
R8857:Mptx2	UTSW	1	173274885	missense	probably benign	0.32
R9070:Mptx2	UTSW	1	173274552	missense	probably benign	0.01
RF001:Mptx2	UTSW	1	173274969	missense	probably benign	0.01

Predicted Primers

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

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

Posted On

2017-01-03