Mutagenetix > Incidental Mutation

Incidental Mutation 'R4993:Mmrn2'

385047

Institutional Source

Beutler Lab

Gene Symbol

Mmrn2

Ensembl Gene

ENSMUSG00000041445

Gene Name

multimerin 2

Synonyms

ENDOGLYX1, EndoGlyx-1, Emilin3

MMRRC Submission

042587-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34097461-34126244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34118355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 107 (Y107F)

Ref Sequence

ENSEMBL: ENSMUSP00000107539 (fasta)

Gene Model

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

AlphaFold

A6H6E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111908
AA Change: Y107F

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

SMART Domains

Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: Y107F

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: Y28F

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Akap11	A	G	14: 78,750,408 (GRCm39)	F660L	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fanci	T	C	7: 79,085,126 (GRCm39)	*851Q	probably null	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Gale	C	A	4: 135,694,171 (GRCm39)	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,202,935 (GRCm39)	I210V	probably benign	Het
Nek9	A	G	12: 85,357,194 (GRCm39)	C657R	probably damaging	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,639,867 (GRCm39)	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,464,465 (GRCm39)	K599N	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	probably benign	Het

Other mutations in Mmrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01523:Mmrn2	APN	14	34,125,174 (GRCm39)	missense	probably damaging	1.00
IGL02529:Mmrn2	APN	14	34,120,570 (GRCm39)	missense	possibly damaging	0.74
IGL02590:Mmrn2	APN	14	34,121,224 (GRCm39)	nonsense	probably null
P0037:Mmrn2	UTSW	14	34,125,022 (GRCm39)	missense	probably damaging	1.00
R0323:Mmrn2	UTSW	14	34,119,991 (GRCm39)	missense	probably damaging	0.97
R0499:Mmrn2	UTSW	14	34,119,913 (GRCm39)	missense	probably damaging	1.00
R1073:Mmrn2	UTSW	14	34,118,251 (GRCm39)	critical splice donor site	probably null
R1422:Mmrn2	UTSW	14	34,118,196 (GRCm39)	missense	probably damaging	1.00
R1455:Mmrn2	UTSW	14	34,121,089 (GRCm39)	missense	probably benign	0.00
R1584:Mmrn2	UTSW	14	34,097,642 (GRCm39)	missense	probably benign	0.19
R1702:Mmrn2	UTSW	14	34,119,871 (GRCm39)	missense	probably benign	0.34
R1919:Mmrn2	UTSW	14	34,119,600 (GRCm39)	missense	probably benign	0.10
R1961:Mmrn2	UTSW	14	34,120,432 (GRCm39)	splice site	probably null
R2267:Mmrn2	UTSW	14	34,121,449 (GRCm39)	missense	probably benign	0.41
R2268:Mmrn2	UTSW	14	34,121,449 (GRCm39)	missense	probably benign	0.41
R2516:Mmrn2	UTSW	14	34,120,759 (GRCm39)	missense	probably benign	0.12
R2571:Mmrn2	UTSW	14	34,124,896 (GRCm39)	missense	probably damaging	0.99
R2696:Mmrn2	UTSW	14	34,120,372 (GRCm39)	missense	probably damaging	1.00
R2892:Mmrn2	UTSW	14	34,118,587 (GRCm39)	missense	probably benign	0.01
R2919:Mmrn2	UTSW	14	34,124,879 (GRCm39)	missense	possibly damaging	0.72
R3611:Mmrn2	UTSW	14	34,120,632 (GRCm39)	missense	probably benign	0.00
R3898:Mmrn2	UTSW	14	34,121,517 (GRCm39)	splice site	probably null
R3899:Mmrn2	UTSW	14	34,121,517 (GRCm39)	splice site	probably null
R3900:Mmrn2	UTSW	14	34,121,517 (GRCm39)	splice site	probably null
R4363:Mmrn2	UTSW	14	34,119,934 (GRCm39)	missense	probably damaging	0.99
R4392:Mmrn2	UTSW	14	34,119,573 (GRCm39)	missense	probably damaging	1.00
R4510:Mmrn2	UTSW	14	34,125,016 (GRCm39)	missense	possibly damaging	0.67
R4511:Mmrn2	UTSW	14	34,125,016 (GRCm39)	missense	possibly damaging	0.67
R5026:Mmrn2	UTSW	14	34,121,158 (GRCm39)	missense	probably benign	0.07
R5263:Mmrn2	UTSW	14	34,121,541 (GRCm39)	missense	probably benign
R5478:Mmrn2	UTSW	14	34,118,539 (GRCm39)	missense	probably benign	0.11
R5606:Mmrn2	UTSW	14	34,119,581 (GRCm39)	missense	probably damaging	1.00
R6059:Mmrn2	UTSW	14	34,119,548 (GRCm39)	nonsense	probably null
R6279:Mmrn2	UTSW	14	34,119,614 (GRCm39)	missense	probably benign
R6300:Mmrn2	UTSW	14	34,119,614 (GRCm39)	missense	probably benign
R6938:Mmrn2	UTSW	14	34,120,671 (GRCm39)	missense	probably benign	0.22
R7491:Mmrn2	UTSW	14	34,121,374 (GRCm39)	missense	probably damaging	1.00
R7607:Mmrn2	UTSW	14	34,120,897 (GRCm39)	missense	possibly damaging	0.58
R7979:Mmrn2	UTSW	14	34,118,138 (GRCm39)	nonsense	probably null
R7999:Mmrn2	UTSW	14	34,119,879 (GRCm39)	missense	probably benign	0.30
R8113:Mmrn2	UTSW	14	34,119,593 (GRCm39)	missense	probably benign	0.39
R9063:Mmrn2	UTSW	14	34,120,567 (GRCm39)	missense	probably benign	0.04
R9092:Mmrn2	UTSW	14	34,118,587 (GRCm39)	missense	probably benign	0.00
R9180:Mmrn2	UTSW	14	34,121,158 (GRCm39)	missense	probably benign	0.07
R9327:Mmrn2	UTSW	14	34,097,473 (GRCm39)	unclassified	probably benign
R9476:Mmrn2	UTSW	14	34,120,407 (GRCm39)	missense	possibly damaging	0.94
R9510:Mmrn2	UTSW	14	34,120,407 (GRCm39)	missense	possibly damaging	0.94
R9606:Mmrn2	UTSW	14	34,119,654 (GRCm39)	missense	possibly damaging	0.58
X0064:Mmrn2	UTSW	14	34,121,109 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATTCCTGGTCCATTCACAGC -3'
(R):5'- TCCATCGAGTCCCAAGTCTC -3'

Sequencing Primer
(F):5'- GGTCCATTCACAGCAGCCATG -3'
(R):5'- AAGTCTCCTGGAGTTTACCACTTGG -3'

Posted On

2016-05-10