Incidental Mutation 'R4760:March2'
ID356843
Institutional Source Beutler Lab
Gene Symbol March2
Ensembl Gene ENSMUSG00000079557
Gene Namemembrane-associated ring finger (C3HC4) 2
Synonyms
MMRRC Submission 041974-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R4760 (G1)
Quality Score225
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 0.256 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,721,305 M723K probably benign Het
A530053G22Rik A G 6: 60,402,101 noncoding transcript Het
Abcc2 A T 19: 43,810,481 Y512F probably benign Het
Adgrb1 T A 15: 74,571,463 I51N probably damaging Het
Adhfe1 A G 1: 9,563,523 Y332C probably damaging Het
Ambn C T 5: 88,467,707 L317F probably damaging Het
Amn1 T C 6: 149,185,113 Y17C probably benign Het
Apoa5 T C 9: 46,270,295 V223A probably damaging Het
BC048403 T C 10: 121,740,007 V11A probably damaging Het
Best3 A T 10: 117,024,794 H653L probably benign Het
Btnl2 C A 17: 34,363,195 S245Y probably damaging Het
Camk1d A G 2: 5,362,056 L116P probably damaging Het
Catsperg2 T A 7: 29,705,635 D698V probably damaging Het
Cd33 T C 7: 43,529,495 T307A probably benign Het
Cdk8 C T 5: 146,292,666 S230L probably benign Het
Cfap69 C T 5: 5,646,939 C119Y probably damaging Het
Chat T C 14: 32,453,737 N122S probably benign Het
Col20a1 A T 2: 180,984,403 probably benign Het
Cyp2j9 A T 4: 96,568,791 L481Q probably damaging Het
Dab1 A C 4: 104,732,145 S550R probably damaging Het
Dlgap2 A C 8: 14,773,380 Q533P probably damaging Het
Eif4g3 A T 4: 138,084,318 Q31L possibly damaging Het
Ets2 G A 16: 95,719,043 V438M probably damaging Het
Eva1c G A 16: 90,904,250 D258N probably benign Het
Fastkd2 A G 1: 63,745,886 H477R probably benign Het
Fga T G 3: 83,031,514 S399A probably benign Het
Fmo4 T A 1: 162,809,827 E32V probably damaging Het
Gm13083 G A 4: 143,617,231 R367K probably benign Het
Gm1840 G A 8: 5,640,473 noncoding transcript Het
Gm7204 T A 16: 48,218,688 noncoding transcript Het
Hhipl1 A G 12: 108,320,077 I548V probably damaging Het
Hsfy2 T C 1: 56,637,190 T63A probably benign Het
Igf2r A G 17: 12,703,465 V1254A possibly damaging Het
Ighv8-4 A T 12: 115,024,047 D110E probably damaging Het
Igkv14-130 T C 6: 67,791,462 S101P probably benign Het
Igkv9-120 G T 6: 68,050,367 R88S possibly damaging Het
Ipo5 T C 14: 120,941,642 V779A probably benign Het
Itpr1 C T 6: 108,349,632 T105I probably benign Het
Kalrn T C 16: 34,198,487 M670V probably damaging Het
Kdm8 T A 7: 125,455,259 probably null Het
L3hypdh T C 12: 72,077,242 I281V probably benign Het
Lins1 T G 7: 66,714,687 probably benign Het
Map4k5 T A 12: 69,824,598 I517L possibly damaging Het
Mlkl C G 8: 111,319,716 probably null Het
Mllt1 A G 17: 56,902,630 M160T probably benign Het
Mmp15 G A 8: 95,368,196 A233T possibly damaging Het
Moxd2 C A 6: 40,891,603 T23N probably benign Het
Nop53 C A 7: 15,942,887 K100N probably benign Het
Nrg1 C A 8: 31,918,200 E2* probably null Het
Olfr654 T A 7: 104,588,489 H228Q probably benign Het
Pank4 A G 4: 154,974,634 D408G possibly damaging Het
Pcdhb10 T C 18: 37,411,942 W24R probably benign Het
Pcm1 C T 8: 41,287,738 T968I probably damaging Het
Pkib G T 10: 57,708,150 M19I probably benign Het
Ppy A G 11: 102,100,519 probably null Het
Prdx3 A C 19: 60,873,183 C39W possibly damaging Het
Qrfpr T G 3: 36,221,924 N106H probably benign Het
Rai14 G A 15: 10,575,690 T394M possibly damaging Het
Ralgapa2 A T 2: 146,346,749 L1371Q probably benign Het
Rbm12 A G 2: 156,097,128 L408P probably damaging Het
Rdx T C 9: 52,065,874 I141T probably benign Het
Reep1 T A 6: 71,708,001 V11E possibly damaging Het
Sall4 A G 2: 168,750,427 S936P probably damaging Het
Serac1 A G 17: 6,051,790 M403T possibly damaging Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc35g2 T G 9: 100,553,496 I41L probably benign Het
Slc39a12 G A 2: 14,400,323 S242N probably benign Het
Slc9a2 T A 1: 40,761,916 D535E probably damaging Het
Spata31d1a G T 13: 59,701,645 P890T probably damaging Het
Sync A G 4: 129,293,439 Q88R probably benign Het
Tdrp A G 8: 13,974,527 probably benign Het
Tg G T 15: 66,693,319 C1170F probably damaging Het
Tnks A T 8: 34,851,783 D781E probably benign Het
Tnp2 T A 16: 10,788,343 T87S possibly damaging Het
Tpp2 T C 1: 43,971,715 V554A probably benign Het
Traf3ip2 T C 10: 39,645,739 I431T probably damaging Het
Trav9d-4 A T 14: 52,983,801 H84L probably damaging Het
Vmn2r42 T A 7: 8,184,277 Y782F probably damaging Het
Vwf T C 6: 125,570,604 S231P probably damaging Het
Wdr83os A G 8: 85,081,867 S83G probably damaging Het
Wdr91 T A 6: 34,908,299 Q109L probably damaging Het
Znrf4 A G 17: 56,511,864 C148R possibly 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
R4776:March2 UTSW 17 33709916 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGGCTACTAATGGTCACTACTC -3'
(R):5'- TTGCACATGTTCACTTGCAC -3'

Sequencing Primer
(F):5'- AATGGTCACTACTCACCTCTGTG -3'
(R):5'- AGGTTTCTGGGACCATG -3'
Posted On2015-11-11