Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:Mmrn2'

580793

Institutional Source

Beutler Lab

Gene Symbol

Mmrn2

Ensembl Gene

ENSMUSG00000041445

Gene Name

multimerin 2

Synonyms

ENDOGLYX1, EndoGlyx-1, Emilin3

MMRRC Submission

045565-MU

Accession Numbers

Essential gene?

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

Stock #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34097461-34126244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34121374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 748 (H748R)

Ref Sequence

ENSEMBL: ENSMUSP00000107539 (fasta)

Gene Model

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

AlphaFold

A6H6E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111908
AA Change: H748R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: H748R

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,445,099 (GRCm39)		probably null	Het
5730522E02Rik	A	T	11: 25,719,014 (GRCm39)	V44E	unknown	Het
Adcy9	A	G	16: 4,236,673 (GRCm39)	L246S	possibly damaging	Het
Adk	C	T	14: 21,284,997 (GRCm39)	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,726,794 (GRCm39)	D41V	probably benign	Het
Ankib1	T	G	5: 3,751,911 (GRCm39)	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,219,203 (GRCm39)	V542D	probably benign	Het
Arhgef28	T	C	13: 98,081,194 (GRCm39)	N1221S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,898,631 (GRCm39)	V353A	probably benign	Het
Cacna1a	C	A	8: 85,285,922 (GRCm39)	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,590,304 (GRCm39)	M1559V		Het
Cdh10	G	C	15: 19,013,445 (GRCm39)	E682Q	probably damaging	Het
Celsr1	T	C	15: 85,916,719 (GRCm39)	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,291,111 (GRCm39)	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Col2a1	C	T	15: 97,874,040 (GRCm39)	V1449I	not run	Het
Cpt2	A	G	4: 107,764,339 (GRCm39)	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,235,487 (GRCm39)	T502A	probably benign	Het
Creb3l2	G	T	6: 37,356,794 (GRCm39)	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,119,601 (GRCm39)	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,379,379 (GRCm39)	V246F	probably damaging	Het
Dse	A	G	10: 34,028,561 (GRCm39)	V843A	probably benign	Het
Ern2	C	A	7: 121,769,756 (GRCm39)	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,472,281 (GRCm39)	D906N	probably damaging	Het
Fry	A	G	5: 150,389,791 (GRCm39)	E140G		Het
Galnt7	A	G	8: 58,005,552 (GRCm39)	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,249,763 (GRCm39)	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm826	A	T	2: 160,153,942 (GRCm39)	S34T	unknown	Het
Gzmk	A	T	13: 113,308,535 (GRCm39)	I222N	probably benign	Het
Hivep3	A	T	4: 119,956,027 (GRCm39)	T1448S	probably benign	Het
Hk1	T	C	10: 62,131,524 (GRCm39)	D278G	probably damaging	Het
Ipo7	C	A	7: 109,638,401 (GRCm39)	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,598,179 (GRCm39)	I571N	probably damaging	Het
Itgb6	T	C	2: 60,450,720 (GRCm39)	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,489,562 (GRCm39)	H4459L	probably damaging	Het
Limch1	T	G	5: 67,211,580 (GRCm39)	S894R	probably damaging	Het
Lrit2	A	T	14: 36,790,867 (GRCm39)	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,867,100 (GRCm39)	H374L	possibly damaging	Het
Mrpl58	T	C	11: 115,301,092 (GRCm39)	V134A	possibly damaging	Het
Nae1	A	T	8: 105,244,871 (GRCm39)	D353E	probably benign	Het
Naip5	A	C	13: 100,353,579 (GRCm39)	F1227V	probably benign	Het
Nln	A	T	13: 104,205,831 (GRCm39)	F108I	probably damaging	Het
Nop16	C	T	13: 54,736,417 (GRCm39)	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,424,903 (GRCm39)	T150S	probably benign	Het
Or10d4b	T	G	9: 39,535,268 (GRCm39)	I281S	possibly damaging	Het
Pcdha4	T	C	18: 37,087,689 (GRCm39)	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,483 (GRCm39)	I513T	probably benign	Het
Prc1	A	T	7: 79,959,239 (GRCm39)		probably null	Het
Prpf4	T	A	4: 62,336,113 (GRCm39)	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,051,392 (GRCm39)	E43G	probably benign	Het
Pum1	T	A	4: 130,446,485 (GRCm39)	D181E	probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Rgs1	T	C	1: 144,121,134 (GRCm39)	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,103,764 (GRCm39)	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528 (GRCm39)	L1484Q	probably damaging	Het
Sall3	C	T	18: 81,015,920 (GRCm39)	M669I	probably benign	Het
Saxo1	A	C	4: 86,363,644 (GRCm39)	F280V	probably benign	Het
Scn2a	T	C	2: 65,532,352 (GRCm39)	S655P	probably damaging	Het
Senp6	G	T	9: 80,031,010 (GRCm39)	E571*	probably null	Het
Sin3b	C	G	8: 73,473,069 (GRCm39)	T463S	probably damaging	Het
Sirt7	C	A	11: 120,509,837 (GRCm39)	R349L	probably benign	Het
Skor1	T	C	9: 63,053,730 (GRCm39)	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,359,822 (GRCm39)	R310*	probably null	Het
Slco6c1	A	T	1: 97,055,579 (GRCm39)	H107Q	probably benign	Het
Slit2	A	G	5: 48,377,336 (GRCm39)	E455G	probably benign	Het
Smo	G	C	6: 29,736,119 (GRCm39)	G37A	probably damaging	Het
St6galnac1	T	C	11: 116,660,010 (GRCm39)	K101R	probably benign	Het
Stat1	C	A	1: 52,191,530 (GRCm39)	N628K	probably benign	Het
Syn2	A	T	6: 115,231,615 (GRCm39)	Y302F	probably benign	Het
Tapt1	T	G	5: 44,345,978 (GRCm39)	Q324P	probably damaging	Het
Tgoln1	C	T	6: 72,593,403 (GRCm39)	A26T	unknown	Het
Timm13	T	A	10: 80,736,378 (GRCm39)	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,242,654 (GRCm39)	P77S	possibly damaging	Het
Trem3	T	G	17: 48,564,969 (GRCm39)	F157V	probably benign	Het
Trgv3	T	A	13: 19,427,016 (GRCm39)	M1K	probably null	Het
Trim33	T	A	3: 103,233,464 (GRCm39)	S420T	probably benign	Het
Trip11	T	C	12: 101,851,694 (GRCm39)	K790R	probably damaging	Het
Trnt1	A	G	6: 106,755,865 (GRCm39)	T307A	probably benign	Het
Tshz1	T	C	18: 84,033,766 (GRCm39)	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,827 (GRCm39)	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,484,342 (GRCm39)	Y488H	probably benign	Het
Vwa8	A	T	14: 79,320,254 (GRCm39)	K1088N	probably benign	Het
Wdr35	T	C	12: 9,036,000 (GRCm39)	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569 (GRCm39)	S3T	probably benign	Het
Zscan22	G	A	7: 12,640,833 (GRCm39)	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,812 (GRCm39)	R283*	probably null	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
R4993:Mmrn2	UTSW	14	34,118,355 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGAGGAAGCCATGACTTTG -3'
(R):5'- ATTCGTAGAGTCAGTCTCCAGG -3'

Sequencing Primer
(F):5'- GATGTCAAGCAGATTGGG -3'
(R):5'- CAGACCTTTGGCGTGTGCATC -3'

Posted On

2019-10-17