Mutagenetix > Incidental Mutation

Incidental Mutation 'R1584:Mmrn2'

177376

Institutional Source

Beutler Lab

Gene Symbol

Mmrn2

Ensembl Gene

ENSMUSG00000041445

Gene Name

multimerin 2

Synonyms

Emilin3, EndoGlyx-1, ENDOGLYX1

MMRRC Submission

039621-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R1584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34375465-34404287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34375685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 24 (D24G)

Ref Sequence

ENSEMBL: ENSMUSP00000107539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023826] [ENSMUST00000111908]

AlphaFold

A6H6E2

Predicted Effect

probably benign
Transcript: ENSMUST00000023826

SMART Domains

Protein: ENSMUSP00000023826
Gene: ENSMUSG00000023064

Domain	Start	End	E-Value	Type
Pfam:Synuclein	1	123	6.6e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111908
AA Change: D24G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: D24G

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

probably benign
Transcript: ENSMUST00000227130

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

99% (106/107)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,515,410	A71V	probably damaging	Het
Ager	A	G	17: 34,600,718	E357G	probably damaging	Het
Akap13	T	C	7: 75,729,049	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337		probably null	Het
Arrdc1	T	C	2: 24,925,795	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065	Y2250H	probably damaging	Het
BC005561	T	A	5: 104,518,257	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258	A2478T	probably damaging	Het
Btrc	T	A	19: 45,513,382		probably benign	Het
C8g	C	T	2: 25,500,216	A6T	probably benign	Het
Cdc123	T	A	2: 5,803,977		probably null	Het
Cilp	G	A	9: 65,279,715	G1031S	probably damaging	Het
Cldn5	G	A	16: 18,777,477	G161D	probably damaging	Het
Cndp2	G	A	18: 84,677,315		probably benign	Het
Cntnap1	C	A	11: 101,180,360	F366L	probably damaging	Het
Corin	C	T	5: 72,302,790		probably null	Het
Ctdspl2	G	A	2: 122,003,929	R332K	probably benign	Het
Dido1	G	A	2: 180,662,328	P1261L	probably damaging	Het
Dopey1	A	T	9: 86,548,172	R2200*	probably null	Het
Dtx3l	G	A	16: 35,932,728	L503F	probably damaging	Het
Dysf	A	G	6: 84,067,047	K259R	probably benign	Het
Enpep	T	A	3: 129,319,448	T203S	probably damaging	Het
Epha2	T	A	4: 141,322,047		probably null	Het
Fam20b	T	C	1: 156,686,188		probably benign	Het
Fbln7	A	G	2: 128,877,429	T49A	probably benign	Het
Fgf14	T	A	14: 124,676,539	K60M	probably benign	Het
Fhad1	T	C	4: 141,985,511	I206V	probably benign	Het
Figla	A	G	6: 86,020,782	E164G	probably benign	Het
Gimap4	C	A	6: 48,691,282	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964	T6I	probably damaging	Het
Gm6583	C	T	5: 112,354,764	G358D	probably benign	Het
Grk4	T	C	5: 34,694,750	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566	E220K	probably damaging	Het
Hecw1	A	G	13: 14,340,743		probably null	Het
Helz2	G	A	2: 181,236,297	P903S	probably damaging	Het
Hydin	T	C	8: 110,580,815	V3942A	probably benign	Het
Irs1	G	T	1: 82,289,444	H350Q	probably benign	Het
Kdm1b	G	A	13: 47,064,054	E46K	probably damaging	Het
Klf11	A	G	12: 24,655,305	N253D	probably damaging	Het
Klhl23	T	C	2: 69,833,888	I527T	probably damaging	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542		probably null	Het
Lilra6	T	A	7: 3,912,662	D358V	probably damaging	Het
Mpp5	A	G	12: 78,829,727	I482V	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mrps35	C	T	6: 147,055,984	T169M	probably damaging	Het
Muc4	G	A	16: 32,753,595	G1157D	probably benign	Het
Naga	T	A	15: 82,334,788	M237L	probably null	Het
Nfu1	G	A	6: 87,020,809	E225K	probably damaging	Het
Nin	A	T	12: 70,042,669	L1324Q	probably benign	Het
Oc90	T	A	15: 65,897,720	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995	F251I	probably damaging	Het
Olfr1253	C	T	2: 89,752,267	C187Y	probably damaging	Het
Olfr1471	T	C	19: 13,445,659	Y216H	probably damaging	Het
Olfr25	G	A	9: 38,330,131	M181I	possibly damaging	Het
Olfr522	A	G	7: 140,162,203	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494	C324S	possibly damaging	Het
Pdzrn4	T	C	15: 92,770,537	S857P	probably benign	Het
Plec	C	T	15: 76,185,908	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481	V149D	probably benign	Het
Pm20d2	A	T	4: 33,174,772	N371K	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,684	Y480H	probably benign	Het
Prkd1	A	T	12: 50,425,515	V205E	probably damaging	Het
R3hdm2	A	G	10: 127,476,690	I434V	probably benign	Het
Rel	T	A	11: 23,745,546	T246S	probably damaging	Het
Rnf215	T	A	11: 4,136,719	V172E	probably damaging	Het
Scara3	T	C	14: 65,921,104	D485G	probably damaging	Het
Sec16a	A	T	2: 26,431,157	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060	D824E	possibly damaging	Het
Slc27a4	T	A	2: 29,811,190	V331E	probably damaging	Het
Srebf1	C	T	11: 60,200,702	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662	M1R	probably null	Het
Tapbp	C	T	17: 33,919,940		probably null	Het
Tep1	A	T	14: 50,866,037	N265K	probably damaging	Het
Tln2	T	A	9: 67,296,414	N470I	probably damaging	Het
Trim43a	G	T	9: 88,588,158	W339L	probably damaging	Het
Ttc22	T	C	4: 106,622,780	F77S	probably damaging	Het
Ttc8	A	G	12: 98,920,764	E32G	probably benign	Het
Uhmk1	A	T	1: 170,208,653		probably null	Het
Usp17lc	A	G	7: 103,418,941	H481R	possibly damaging	Het
Vamp8	G	A	6: 72,385,634	T35M	probably damaging	Het
Vill	A	G	9: 119,065,586	Y53C	probably damaging	Het
Vmn1r222	A	T	13: 23,232,762	S94T	probably damaging	Het
Vmn2r93	A	G	17: 18,305,151	Y357C	possibly damaging	Het
Vps13c	T	A	9: 67,893,112	V536D	possibly damaging	Het
Vrtn	G	A	12: 84,650,081	C535Y	probably damaging	Het
Vwa3a	A	G	7: 120,768,165	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895	T140I	probably damaging	Het
Ykt6	T	A	11: 5,962,349	F101I	probably damaging	Het
Zfp277	C	T	12: 40,378,826	G174D	probably benign	Het
Zfp638	A	G	6: 83,978,065		probably null	Het
Zzef1	C	T	11: 72,924,679	P2942S	probably damaging	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
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
R4392:Mmrn2	UTSW	14	34397616	missense	probably damaging	1.00
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'- CCAAATCCCGTGTCCCTGATTCAAG -3'
(R):5'- CCAAAGCCCCTGCTATAGGTCAAG -3'

Sequencing Primer
(F):5'- TGATTCAAGTGCCCTCAGGAC -3'
(R):5'- GCATCCCTTAGCTATAGAGATAGCC -3'

Posted On

2014-04-24