Incidental Mutation 'R4760:Marchf2'
ID 356843
Institutional Source Beutler Lab
Gene Symbol Marchf2
Ensembl Gene ENSMUSG00000079557
Gene Name membrane associated ring-CH-type finger 2
Synonyms 9530046H09Rik, March2
MMRRC Submission 041974-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4760 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33904666-33937644 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33928890 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99M02
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: 96.9%
  • 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
A530053G22Rik A G 6: 60,379,086 (GRCm39) noncoding transcript Het
Abcc2 A T 19: 43,798,920 (GRCm39) Y512F probably benign Het
Adgrb1 T A 15: 74,443,312 (GRCm39) I51N probably damaging Het
Adhfe1 A G 1: 9,633,748 (GRCm39) Y332C probably damaging Het
Ambn C T 5: 88,615,566 (GRCm39) L317F probably damaging Het
Amn1 T C 6: 149,086,611 (GRCm39) Y17C probably benign Het
Apoa5 T C 9: 46,181,593 (GRCm39) V223A probably damaging Het
Best3 A T 10: 116,860,699 (GRCm39) H653L probably benign Het
Btnl2 C A 17: 34,582,169 (GRCm39) S245Y probably damaging Het
Camk1d A G 2: 5,366,867 (GRCm39) L116P probably damaging Het
Catsperg2 T A 7: 29,405,060 (GRCm39) D698V probably damaging Het
Cd33 T C 7: 43,178,919 (GRCm39) T307A probably benign Het
Cdk8 C T 5: 146,229,476 (GRCm39) S230L probably benign Het
Cfap69 C T 5: 5,696,939 (GRCm39) C119Y probably damaging Het
Chat T C 14: 32,175,694 (GRCm39) N122S probably benign Het
Col20a1 A T 2: 180,626,196 (GRCm39) probably benign Het
Cyp2j9 A T 4: 96,457,028 (GRCm39) L481Q probably damaging Het
Dab1 A C 4: 104,589,342 (GRCm39) S550R probably damaging Het
Dlgap2 A C 8: 14,823,380 (GRCm39) Q533P probably damaging Het
Eif4g3 A T 4: 137,811,629 (GRCm39) Q31L possibly damaging Het
Ets2 G A 16: 95,520,087 (GRCm39) V438M probably damaging Het
Eva1c G A 16: 90,701,138 (GRCm39) D258N probably benign Het
Fastkd2 A G 1: 63,785,045 (GRCm39) H477R probably benign Het
Fga T G 3: 82,938,821 (GRCm39) S399A probably benign Het
Fmo4 T A 1: 162,637,396 (GRCm39) E32V probably damaging Het
Gm7204 T A 16: 48,039,051 (GRCm39) noncoding transcript Het
Gpi-ps G A 8: 5,690,473 (GRCm39) noncoding transcript Het
Hhipl1 A G 12: 108,286,336 (GRCm39) I548V probably damaging Het
Hsfy2 T C 1: 56,676,349 (GRCm39) T63A probably benign Het
Igf2r A G 17: 12,922,352 (GRCm39) V1254A possibly damaging Het
Ighv8-4 A T 12: 114,987,667 (GRCm39) D110E probably damaging Het
Igkv14-130 T C 6: 67,768,446 (GRCm39) S101P probably benign Het
Igkv9-120 G T 6: 68,027,351 (GRCm39) R88S possibly damaging Het
Ipo5 T C 14: 121,179,054 (GRCm39) V779A probably benign Het
Itpr1 C T 6: 108,326,593 (GRCm39) T105I probably benign Het
Kalrn T C 16: 34,018,857 (GRCm39) M670V probably damaging Het
Kdm8 T A 7: 125,054,431 (GRCm39) probably null Het
Kics2 T C 10: 121,575,912 (GRCm39) V11A probably damaging Het
L3hypdh T C 12: 72,124,016 (GRCm39) I281V probably benign Het
Lins1 T G 7: 66,364,435 (GRCm39) probably benign Het
Map4k5 T A 12: 69,871,372 (GRCm39) I517L possibly damaging Het
Mlkl C G 8: 112,046,348 (GRCm39) probably null Het
Mllt1 A G 17: 57,209,630 (GRCm39) M160T probably benign Het
Mmp15 G A 8: 96,094,824 (GRCm39) A233T possibly damaging Het
Moxd2 C A 6: 40,868,537 (GRCm39) T23N probably benign Het
Nop53 C A 7: 15,676,812 (GRCm39) K100N probably benign Het
Nrg1 C A 8: 32,408,228 (GRCm39) E2* probably null Het
Or52u1 T A 7: 104,237,696 (GRCm39) H228Q probably benign Het
Pank4 A G 4: 155,059,091 (GRCm39) D408G possibly damaging Het
Pcdhb10 T C 18: 37,544,995 (GRCm39) W24R probably benign Het
Pcm1 C T 8: 41,740,775 (GRCm39) T968I probably damaging Het
Pkib G T 10: 57,584,246 (GRCm39) M19I probably benign Het
Ppy A G 11: 101,991,345 (GRCm39) probably null Het
Pramel21 G A 4: 143,343,801 (GRCm39) R367K probably benign Het
Prdx3 A C 19: 60,861,621 (GRCm39) C39W possibly damaging Het
Qrfpr T G 3: 36,276,073 (GRCm39) N106H probably benign Het
Rai14 G A 15: 10,575,776 (GRCm39) T394M possibly damaging Het
Ralgapa2 A T 2: 146,188,669 (GRCm39) L1371Q probably benign Het
Rbm12 A G 2: 155,939,048 (GRCm39) L408P probably damaging Het
Rdx T C 9: 51,977,174 (GRCm39) I141T probably benign Het
Reep1 T A 6: 71,684,985 (GRCm39) V11E possibly damaging Het
Relch T A 1: 105,649,030 (GRCm39) M723K probably benign Het
Sall4 A G 2: 168,592,347 (GRCm39) S936P probably damaging Het
Serac1 A G 17: 6,102,065 (GRCm39) M403T possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc35g2 T G 9: 100,435,549 (GRCm39) I41L probably benign Het
Slc39a12 G A 2: 14,405,134 (GRCm39) S242N probably benign Het
Slc9a2 T A 1: 40,801,076 (GRCm39) D535E probably damaging Het
Spata31d1a G T 13: 59,849,459 (GRCm39) P890T probably damaging Het
Sync A G 4: 129,187,232 (GRCm39) Q88R probably benign Het
Tdrp A G 8: 14,024,527 (GRCm39) probably benign Het
Tg G T 15: 66,565,168 (GRCm39) C1170F probably damaging Het
Tnks A T 8: 35,318,937 (GRCm39) D781E probably benign Het
Tnp2 T A 16: 10,606,207 (GRCm39) T87S possibly damaging Het
Tpp2 T C 1: 44,010,875 (GRCm39) V554A probably benign Het
Traf3ip2 T C 10: 39,521,735 (GRCm39) I431T probably damaging Het
Trav9d-4 A T 14: 53,221,258 (GRCm39) H84L probably damaging Het
Vmn2r42 T A 7: 8,187,276 (GRCm39) Y782F probably damaging Het
Vwf T C 6: 125,547,567 (GRCm39) S231P probably damaging Het
Wdr83os A G 8: 85,808,496 (GRCm39) S83G probably damaging Het
Wdr91 T A 6: 34,885,234 (GRCm39) Q109L probably damaging Het
Znrf4 A G 17: 56,818,864 (GRCm39) C148R possibly damaging Het
Other mutations in Marchf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:Marchf2 APN 17 33,922,070 (GRCm39) missense probably damaging 1.00
IGL02562:Marchf2 APN 17 33,915,048 (GRCm39) missense probably damaging 1.00
R1022:Marchf2 UTSW 17 33,928,762 (GRCm39) missense probably damaging 1.00
R1024:Marchf2 UTSW 17 33,928,762 (GRCm39) missense probably damaging 1.00
R1398:Marchf2 UTSW 17 33,915,096 (GRCm39) missense probably damaging 1.00
R4384:Marchf2 UTSW 17 33,915,167 (GRCm39) missense probably benign 0.34
R4776:Marchf2 UTSW 17 33,928,890 (GRCm39) missense probably damaging 1.00
R7541:Marchf2 UTSW 17 33,922,032 (GRCm39) nonsense probably null
R8856:Marchf2 UTSW 17 33,915,165 (GRCm39) missense probably benign 0.42
R9005:Marchf2 UTSW 17 33,915,207 (GRCm39) missense probably damaging 1.00
R9555:Marchf2 UTSW 17 33,922,129 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTGGCTACTAATGGTCACTACTC -3'
(R):5'- TTGCACATGTTCACTTGCAC -3'

Sequencing Primer
(F):5'- AATGGTCACTACTCACCTCTGTG -3'
(R):5'- AGGTTTCTGGGACCATG -3'
Posted On 2015-11-11