Incidental Mutation 'R4776:March2'
ID367976
Institutional Source Beutler Lab
Gene Symbol March2
Ensembl Gene ENSMUSG00000079557
Gene Namemembrane-associated ring finger (C3HC4) 2
Synonyms
MMRRC Submission 042413-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R4776 (G1)
Quality Score147
Status Validated
Chromosome17
Chromosomal Location33685692-33718670 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 33709916 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 2 (T2K)
Ref Sequence ENSEMBL: ENSMUSP00000134255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066121] [ENSMUST00000167611] [ENSMUST00000172767] [ENSMUST00000172934] [ENSMUST00000173015] [ENSMUST00000173329] [ENSMUST00000173392] [ENSMUST00000174040] [ENSMUST00000186022]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066121
AA Change: T2K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065225
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
RINGv 63 110 2.86e-23 SMART
transmembrane domain 143 160 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167611
AA Change: T2K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127601
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
RINGv 63 110 2.86e-23 SMART
transmembrane domain 143 160 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172767
AA Change: T2K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134220
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
RINGv 63 110 2.86e-23 SMART
transmembrane domain 143 160 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000172934
AA Change: T2K

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134026
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
RINGv 63 110 2.86e-23 SMART
transmembrane domain 142 161 N/A INTRINSIC
transmembrane domain 176 195 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173015
AA Change: T2K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133802
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
RINGv 63 110 2.86e-23 SMART
transmembrane domain 142 164 N/A INTRINSIC
transmembrane domain 179 201 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173329
AA Change: T2K

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133825
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
RINGv 63 110 2.86e-23 SMART
transmembrane domain 142 164 N/A INTRINSIC
transmembrane domain 174 196 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173392
AA Change: T2K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134255
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
Blast:RINGv 63 82 6e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174040
AA Change: T22K

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134437
Gene: ENSMUSG00000079557
AA Change: T22K

DomainStartEndE-ValueType
RINGv 83 130 2.86e-23 SMART
transmembrane domain 158 180 N/A INTRINSIC
transmembrane domain 193 215 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186022
AA Change: T2K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139724
Gene: ENSMUSG00000079557
AA Change: T2K

DomainStartEndE-ValueType
RINGv 63 110 2.86e-23 SMART
transmembrane domain 143 160 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
Meta Mutation Damage Score 0.1645 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (94/96)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,719,535 Y683* probably null Het
2610028H24Rik A T 10: 76,457,512 M156L probably benign Het
4930470P17Rik C T 2: 170,579,724 A79T unknown Het
4930522L14Rik A G 5: 109,736,873 I373T probably benign Het
A830010M20Rik C A 5: 107,510,451 A1117E probably damaging Het
Amotl1 G A 9: 14,593,373 Q217* probably null Het
Ankrd28 A T 14: 31,732,054 C254S probably damaging Het
Ap2a1 A G 7: 44,901,546 probably benign Het
Arfgef3 A T 10: 18,654,247 S245T probably benign Het
Arntl A T 7: 113,285,037 K94I probably damaging Het
Atp1b2 A T 11: 69,601,561 D224E probably damaging Het
Boc G A 16: 44,487,721 R924W probably damaging Het
Car14 C T 3: 95,898,873 G292D probably benign Het
Cenpb T C 2: 131,178,183 probably benign Het
Ces1b A T 8: 93,063,030 D423E possibly damaging Het
Cfap54 T A 10: 92,972,694 N1373I possibly damaging Het
Chrdl2 T C 7: 100,006,541 probably benign Het
Cic T G 7: 25,282,883 S12A possibly damaging Het
Csmd2 A T 4: 128,442,892 Q1421L probably benign Het
D630039A03Rik T C 4: 57,910,452 H120R possibly damaging Het
Dicer1 T A 12: 104,692,446 D1779V probably damaging Het
Dock9 G T 14: 121,610,097 H1016N possibly damaging Het
Dxo T C 17: 34,838,998 L352P probably damaging Het
Eif2b5 T A 16: 20,500,233 F78I probably damaging Het
Eri2 A G 7: 119,784,946 probably benign Het
Fam208b A G 13: 3,570,391 F2170S probably damaging Het
Fbxw7 T G 3: 84,925,689 L13V possibly damaging Het
Fgf7 T A 2: 126,035,783 C23* probably null Het
Fubp1 T A 3: 152,222,068 probably null Het
Gm2663 A T 6: 40,995,953 I240N probably damaging Het
Gnb1l C T 16: 18,548,096 Q140* probably null Het
Gnptab G A 10: 88,436,528 R1010Q probably damaging Het
Gtf2h1 G A 7: 46,822,878 W544* probably null Het
Gucy2c C T 6: 136,722,514 E586K probably damaging Het
Hc T A 2: 35,039,734 E232V probably benign Het
Ifi207 T A 1: 173,730,056 D372V unknown Het
Igkv8-28 A T 6: 70,144,118 V15E probably benign Het
Il1rap A G 16: 26,692,799 S198G possibly damaging Het
Lct A G 1: 128,300,387 I1123T probably damaging Het
Lhcgr T C 17: 88,742,697 E467G probably damaging Het
Macf1 C T 4: 123,476,015 R86K probably benign Het
Maml3 T A 3: 51,856,532 Q337L probably benign Het
March10 T A 11: 105,390,037 D474V probably benign Het
Mast1 A G 8: 84,937,193 probably null Het
Med12l T C 3: 59,233,212 I868T probably damaging Het
Msrb1 T C 17: 24,740,173 S100P probably damaging Het
Nlrp4c T C 7: 6,066,126 L342P probably benign Het
Nrxn3 T A 12: 90,331,956 V417E possibly damaging Het
Ntng1 T A 3: 109,934,713 D248V probably damaging Het
Oaz3 T C 3: 94,434,998 Q117R probably benign Het
Olfr1311 A G 2: 112,020,931 Y308H probably benign Het
Olfr444 A G 6: 42,955,521 I8V probably benign Het
Olfr589 A G 7: 103,155,414 L111P probably benign Het
Osbpl3 A C 6: 50,300,973 S767A probably benign Het
Pafah1b1 A T 11: 74,685,871 probably benign Het
Pard6b A G 2: 168,098,788 T232A probably damaging Het
Paxip1 A T 5: 27,765,206 C596S probably damaging Het
Pnpla6 T C 8: 3,523,818 V422A probably benign Het
Psmd6 A T 14: 14,120,932 probably benign Het
Rock2 T A 12: 16,977,740 C1353S probably damaging Het
Rpl31-ps17 C T 12: 54,701,612 noncoding transcript Het
Sel1l T A 12: 91,813,893 H658L probably damaging Het
Sh3yl1 T A 12: 30,940,314 L105Q probably damaging Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Sirt1 T C 10: 63,335,722 K227E probably benign Het
Slc25a34 A T 4: 141,623,588 F37I possibly damaging Het
Slc39a5 T A 10: 128,397,049 I378F probably damaging Het
Smarcad1 A T 6: 65,098,824 D731V probably null Het
Sox6 T G 7: 115,541,670 K483N probably damaging Het
Sp140 T A 1: 85,610,828 D95E possibly damaging Het
Srgap1 G T 10: 121,792,351 D882E probably benign Het
Syne4 T C 7: 30,316,833 probably benign Het
Tec T C 5: 72,768,776 Y289C probably benign Het
Tmem102 A T 11: 69,804,802 Y115N probably damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trav17 T A 14: 53,806,640 M1K probably null Het
Trdn T A 10: 33,399,082 probably null Het
Trp53 A T 11: 69,586,921 I8F probably benign Het
Ttn T A 2: 76,754,662 D22064V probably damaging Het
Ube3c G A 5: 29,632,838 probably null Het
Ulk1 C T 5: 110,788,947 probably null Het
Upp1 T C 11: 9,135,976 V271A probably damaging Het
Vmn2r4 T C 3: 64,388,661 E901G probably damaging Het
Vmn2r96 G A 17: 18,597,508 G449D probably damaging Het
Vps37b T C 5: 124,006,612 K165E probably damaging Het
Vwf A T 6: 125,566,305 I185F possibly damaging Het
Wasf2 A G 4: 133,185,004 T56A probably benign Het
Zdhhc23 C G 16: 43,973,589 D241H possibly damaging Het
Zfp276 T C 8: 123,254,884 S57P probably benign Het
Zxdc A G 6: 90,370,518 H287R probably damaging Het
Other mutations in March2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:March2 APN 17 33703096 missense probably damaging 1.00
IGL02562:March2 APN 17 33696074 missense probably damaging 1.00
R1022:March2 UTSW 17 33709788 missense probably damaging 1.00
R1024:March2 UTSW 17 33709788 missense probably damaging 1.00
R1398:March2 UTSW 17 33696122 missense probably damaging 1.00
R4384:March2 UTSW 17 33696193 missense probably benign 0.34
R4760:March2 UTSW 17 33709916 missense probably damaging 1.00
R7541:March2 UTSW 17 33703058 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCTGGCTACTAATGGTCAC -3'
(R):5'- TTGCACATGTTCACTTGCAC -3'

Sequencing Primer
(F):5'- GGCTACTAATGGTCACTACTCAC -3'
(R):5'- AGGTTTCTGGGACCATG -3'
Posted On2015-12-29