Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Mmrn2'

326433

Institutional Source

Beutler Lab

Gene Symbol

Mmrn2

Ensembl Gene

ENSMUSG00000041445

Gene Name

multimerin 2

Synonyms

Emilin3, EndoGlyx-1, ENDOGLYX1

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34375465-34404287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34397616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 184 (L184H)

Ref Sequence

ENSEMBL: ENSMUSP00000107539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111908]

AlphaFold

A6H6E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111908
AA Change: L184H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: L184H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	55	127	1.1e-15	PFAM
low complexity region	174	186	N/A	INTRINSIC
low complexity region	356	362	N/A	INTRINSIC
coiled coil region	387	480	N/A	INTRINSIC
coiled coil region	533	583	N/A	INTRINSIC
coiled coil region	688	715	N/A	INTRINSIC
Pfam:C1q	821	940	1.5e-27	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000227130
AA Change: L105H

Meta Mutation Damage Score

0.7344

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978		probably null	Het
Abca13	A	C	11: 9,309,034	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249		probably null	Het
Bmp7	T	G	2: 172,916,542	D178A	probably benign	Het
Brsk1	T	A	7: 4,698,750	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464		probably benign	Het
Col12a1	T	A	9: 79,662,488	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229	R1188H	probably benign	Het
Dopey1	T	C	9: 86,503,143		probably benign	Het
Efcab5	T	A	11: 77,090,458	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641		probably null	Het
Elmsan1	A	T	12: 84,173,111	D356E	probably benign	Het
Erlec1	A	G	11: 30,943,697		probably null	Het
Esp24	T	C	17: 39,040,077		probably benign	Het
Esp34	T	C	17: 38,559,491	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,568,232		probably benign	Het
Foxc2	T	C	8: 121,117,452	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,260,629	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Lhx4	A	G	1: 155,710,134	Y83H	probably damaging	Het
Mdga1	T	C	17: 29,850,656	T413A	probably damaging	Het
Mroh2a	C	T	1: 88,259,589	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881		probably null	Het
Nkain3	C	A	4: 20,282,985	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272	Q212P	probably damaging	Het
Olfr268-ps1	T	C	2: 111,844,345		noncoding transcript	Het
Olfr726	A	G	14: 50,084,603	F26S	probably benign	Het
Otog	T	C	7: 46,285,124	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452		probably benign	Het
Slc10a1	C	A	12: 80,967,804	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752	T631I	probably benign	Het
Tmprss15	A	G	16: 79,024,438	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,795,509		probably null	Het
Trpm7	A	T	2: 126,848,538	W207R	probably damaging	Het
Ttc26	A	G	6: 38,381,557		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643	C419*	probably null	Het

Other mutations in Mmrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01523:Mmrn2	APN	14	34403217	missense	probably damaging	1.00
IGL02529:Mmrn2	APN	14	34398613	missense	possibly damaging	0.74
IGL02590:Mmrn2	APN	14	34399267	nonsense	probably null
P0037:Mmrn2	UTSW	14	34403065	missense	probably damaging	1.00
R0323:Mmrn2	UTSW	14	34398034	missense	probably damaging	0.97
R0499:Mmrn2	UTSW	14	34397956	missense	probably damaging	1.00
R1073:Mmrn2	UTSW	14	34396294	critical splice donor site	probably null
R1422:Mmrn2	UTSW	14	34396239	missense	probably damaging	1.00
R1455:Mmrn2	UTSW	14	34399132	missense	probably benign	0.00
R1584:Mmrn2	UTSW	14	34375685	missense	probably benign	0.19
R1702:Mmrn2	UTSW	14	34397914	missense	probably benign	0.34
R1919:Mmrn2	UTSW	14	34397643	missense	probably benign	0.10
R1961:Mmrn2	UTSW	14	34398475	splice site	probably null
R2267:Mmrn2	UTSW	14	34399492	missense	probably benign	0.41
R2268:Mmrn2	UTSW	14	34399492	missense	probably benign	0.41
R2516:Mmrn2	UTSW	14	34398802	missense	probably benign	0.12
R2571:Mmrn2	UTSW	14	34402939	missense	probably damaging	0.99
R2696:Mmrn2	UTSW	14	34398415	missense	probably damaging	1.00
R2892:Mmrn2	UTSW	14	34396630	missense	probably benign	0.01
R2919:Mmrn2	UTSW	14	34402922	missense	possibly damaging	0.72
R3611:Mmrn2	UTSW	14	34398675	missense	probably benign	0.00
R3898:Mmrn2	UTSW	14	34399560	splice site	probably null
R3899:Mmrn2	UTSW	14	34399560	splice site	probably null
R3900:Mmrn2	UTSW	14	34399560	splice site	probably null
R4363:Mmrn2	UTSW	14	34397977	missense	probably damaging	0.99
R4510:Mmrn2	UTSW	14	34403059	missense	possibly damaging	0.67
R4511:Mmrn2	UTSW	14	34403059	missense	possibly damaging	0.67
R4993:Mmrn2	UTSW	14	34396398	missense	probably damaging	1.00
R5026:Mmrn2	UTSW	14	34399201	missense	probably benign	0.07
R5263:Mmrn2	UTSW	14	34399584	missense	probably benign
R5478:Mmrn2	UTSW	14	34396582	missense	probably benign	0.11
R5606:Mmrn2	UTSW	14	34397624	missense	probably damaging	1.00
R6059:Mmrn2	UTSW	14	34397591	nonsense	probably null
R6279:Mmrn2	UTSW	14	34397657	missense	probably benign
R6300:Mmrn2	UTSW	14	34397657	missense	probably benign
R6938:Mmrn2	UTSW	14	34398714	missense	probably benign	0.22
R7491:Mmrn2	UTSW	14	34399417	missense	probably damaging	1.00
R7607:Mmrn2	UTSW	14	34398940	missense	possibly damaging	0.58
R7979:Mmrn2	UTSW	14	34396181	nonsense	probably null
R7999:Mmrn2	UTSW	14	34397922	missense	probably benign	0.30
R8113:Mmrn2	UTSW	14	34397636	missense	probably benign	0.39
R9063:Mmrn2	UTSW	14	34398610	missense	probably benign	0.04
R9092:Mmrn2	UTSW	14	34396630	missense	probably benign	0.00
R9180:Mmrn2	UTSW	14	34399201	missense	probably benign	0.07
R9327:Mmrn2	UTSW	14	34375516	unclassified	probably benign
R9476:Mmrn2	UTSW	14	34398450	missense	possibly damaging	0.94
R9510:Mmrn2	UTSW	14	34398450	missense	possibly damaging	0.94
R9606:Mmrn2	UTSW	14	34397697	missense	possibly damaging	0.58
X0064:Mmrn2	UTSW	14	34399152	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACATTCCAGCTTAGGAGGGG -3'
(R):5'- GCCAGGAAACTCTGCAACAG -3'

Sequencing Primer
(F):5'- TTAGGAGGGGCCAACGTACTTC -3'
(R):5'- GTTTCAGAAAAGCCTGCTGC -3'

Posted On

2015-07-06