Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Mmrn2'

588394

Institutional Source

Beutler Lab

Gene Symbol

Mmrn2

Ensembl Gene

ENSMUSG00000041445

Gene Name

multimerin 2

Synonyms

Emilin3, EndoGlyx-1, ENDOGLYX1

MMRRC Submission

045677-MU

Accession Numbers

Essential gene?

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

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34375465-34404287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34398940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 589 (I589T)

Ref Sequence

ENSEMBL: ENSMUSP00000107539 (fasta)

Gene Model

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

AlphaFold

A6H6E2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111908
AA Change: I589T

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: I589T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989		probably null	Het
Abca7	T	C	10: 80,011,833	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011		probably null	Het
Atp7b	T	G	8: 22,011,506	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936	L156*	probably null	Het
Gk5	A	T	9: 96,153,210		probably null	Het
Gm3573	A	G	14: 42,189,750	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269		probably null	Het
Knl1	T	C	2: 119,095,133	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890	S689P	probably damaging	Het
Mtmr12	C	T	15: 12,257,708	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783	E128G	probably benign	Het
Radil	A	T	5: 142,494,795	M635K	probably damaging	Het
Radil	A	G	5: 142,506,613	I420T	probably damaging	Het
Rnase11	G	A	14: 51,049,572	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738	P13S		Het
Slc18a2	C	A	19: 59,284,358	A364D	probably benign	Het
Snph	C	T	2: 151,594,586	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829	T40A	unknown	Het
Terb2	G	T	2: 122,186,475	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn1r48	C	A	6: 90,035,980	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742	D992E	possibly 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
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
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
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'- CCTAGAAGAGACCCAAGTGAGC -3'
(R):5'- AATCGCCTGTTCCTGTAGC -3'

Sequencing Primer
(F):5'- GCACCAGCTAGACGGTTCTTC -3'
(R):5'- TGTTCCTGTAGCCCACTGG -3'

Posted On

2019-10-24