Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Mmrn2'

47053

Institutional Source

Beutler Lab

Gene Symbol

Mmrn2

Ensembl Gene

ENSMUSG00000041445

Gene Name

multimerin 2

Synonyms

ENDOGLYX1, EndoGlyx-1, Emilin3

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

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

Stock #

R0499 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

34097461-34126244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34119913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 261 (N261S)

Ref Sequence

ENSEMBL: ENSMUSP00000107539 (fasta)

Gene Model

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

AlphaFold

A6H6E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111908
AA Change: N261S

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

SMART Domains

Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: N261S

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

0.0897

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		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
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
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'- GCAGCAGGCTTTTCTGAAACATGG -3'
(R):5'- GACAAGCTGCTTTAACTTGGTGCTC -3'

Sequencing Primer
(F):5'- CTGAAACATGGTATCTGTTGCAGAG -3'
(R):5'- CTCAGCCTGGACATCAGAGAG -3'

Posted On

2013-06-12