Incidental Mutation 'R4693:Mdga2'
ID 355058
Institutional Source Beutler Lab
Gene Symbol Mdga2
Ensembl Gene ENSMUSG00000034912
Gene Name MAM domain containing glycosylphosphatidylinositol anchor 2
Synonyms 6720489L24Rik, Mdga2, Adp, 9330209L04Rik, Mamdc1
MMRRC Submission 041944-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4693 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 66512834-67269323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66844407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 197 (V197A)
Ref Sequence ENSEMBL: ENSMUSP00000046761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000222167] [ENSMUST00000223141]
AlphaFold P60755
Predicted Effect possibly damaging
Transcript: ENSMUST00000037181
AA Change: V197A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: V197A

DomainStartEndE-ValueType
IGc2 122 186 1.38e-15 SMART
IG 213 307 1.79e0 SMART
IGc2 324 386 1.56e-14 SMART
IGc2 419 493 4.43e-5 SMART
low complexity region 495 507 N/A INTRINSIC
IGc2 525 591 1.97e-11 SMART
IG_like 621 687 2.5e0 SMART
Blast:FN3 707 795 4e-40 BLAST
MAM 812 990 3.4e-49 SMART
transmembrane domain 999 1021 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101379
SMART Domains Protein: ENSMUSP00000098930
Gene: ENSMUSG00000034912

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCOP:d1cs6a1 40 72 2e-5 SMART
Blast:IG 47 72 9e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177690
Predicted Effect unknown
Transcript: ENSMUST00000178814
AA Change: V187A
SMART Domains Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: V187A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGc2 53 117 1.38e-15 SMART
IG 144 238 1.79e0 SMART
IGc2 255 317 1.56e-14 SMART
IGc2 350 424 4.43e-5 SMART
low complexity region 426 438 N/A INTRINSIC
IGc2 456 522 1.97e-11 SMART
IG_like 552 618 2.5e0 SMART
Blast:FN3 638 726 3e-40 BLAST
MAM 736 914 1.38e-49 SMART
transmembrane domain 923 945 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000222167
AA Change: V128A

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223141
AA Change: V128A

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.2146 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (79/79)
MGI Phenotype PHENOTYPE: Mice that paternally inherit an allele disrupted by transgene insertion exhibit varying degrees of abnormalities in the skull, paw, and tail. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 85,004,125 (GRCm39) Y478H probably damaging Het
Adar A T 3: 89,643,247 (GRCm39) H128L probably damaging Het
Angptl6 G T 9: 20,786,598 (GRCm39) D349E probably damaging Het
Anxa9 T C 3: 95,204,667 (GRCm39) T286A probably benign Het
Apobr A G 7: 126,186,019 (GRCm39) N510S probably damaging Het
Atoh7 G T 10: 62,936,275 (GRCm39) R114L probably benign Het
Bank1 C G 3: 135,953,437 (GRCm39) R106P probably damaging Het
Best1 C T 19: 9,974,499 (GRCm39) G15D probably damaging Het
Best2 A T 8: 85,737,832 (GRCm39) F188I probably damaging Het
Ccdc88a T C 11: 29,432,241 (GRCm39) Y344H probably damaging Het
Col6a5 A G 9: 105,814,371 (GRCm39) L547P unknown Het
Cyp19a1 A T 9: 54,080,617 (GRCm39) S247T possibly damaging Het
Cyp26a1 T C 19: 37,686,925 (GRCm39) S126P probably benign Het
Dab1 G T 4: 104,536,750 (GRCm39) C180F probably damaging Het
Dclk2 T C 3: 86,722,400 (GRCm39) D412G possibly damaging Het
Dspp A T 5: 104,325,928 (GRCm39) S764C unknown Het
Dync1li1 C A 9: 114,535,166 (GRCm39) D143E probably damaging Het
Esm1 A T 13: 113,346,594 (GRCm39) D73V probably damaging Het
Etfdh A T 3: 79,513,110 (GRCm39) V431E probably damaging Het
Fam83c C T 2: 155,672,154 (GRCm39) R427H probably damaging Het
Galnt9 A G 5: 110,763,375 (GRCm39) Y93C probably damaging Het
Gm6818 G A 7: 38,100,126 (GRCm39) noncoding transcript Het
Gosr2 A G 11: 103,574,755 (GRCm39) S114P probably benign Het
Grip1 G A 10: 119,836,459 (GRCm39) V444I probably benign Het
Gvin-ps3 T G 7: 105,681,585 (GRCm39) noncoding transcript Het
Haus4 G T 14: 54,787,256 (GRCm39) A67E probably benign Het
Hectd2 T A 19: 36,591,738 (GRCm39) probably benign Het
Kndc1 T C 7: 139,501,695 (GRCm39) Y911H probably benign Het
Lim2 T C 7: 43,080,105 (GRCm39) Y31H probably damaging Het
Lims2 G A 18: 32,077,552 (GRCm39) R101H probably benign Het
Lrrc2 T A 9: 110,799,161 (GRCm39) M236K probably damaging Het
Lrrc37 T A 11: 103,510,686 (GRCm39) E427D unknown Het
Lrrk1 T C 7: 65,912,235 (GRCm39) Y1775C probably damaging Het
Mfhas1 T A 8: 36,056,329 (GRCm39) L268Q probably damaging Het
Mlh1 A G 9: 111,084,726 (GRCm39) I216T probably damaging Het
Mrc2 G A 11: 105,234,528 (GRCm39) C1016Y probably benign Het
Mvp C A 7: 126,597,500 (GRCm39) V168F probably damaging Het
Mybphl A G 3: 108,282,494 (GRCm39) T176A probably benign Het
Myt1 T A 2: 181,437,532 (GRCm39) L81Q probably damaging Het
Ncbp3 T C 11: 72,966,503 (GRCm39) L453S probably benign Het
Or4c1 T A 2: 89,133,621 (GRCm39) E105V probably benign Het
Or4c114 T C 2: 88,905,412 (GRCm39) T8A possibly damaging Het
Or55b10 T A 7: 102,143,659 (GRCm39) I108F probably damaging Het
Or5b125-ps1 C A 19: 13,056,226 (GRCm39) noncoding transcript Het
Or5l14 A T 2: 87,793,053 (GRCm39) F61Y probably benign Het
Pak4 A T 7: 28,263,674 (GRCm39) M354K probably damaging Het
Pax3 T C 1: 78,173,383 (GRCm39) T2A probably benign Het
Pcdh17 A G 14: 84,770,960 (GRCm39) D1146G probably damaging Het
Pcyt1a T C 16: 32,289,042 (GRCm39) probably benign Het
Pfkp C T 13: 6,650,671 (GRCm39) G467D possibly damaging Het
Plin4 C A 17: 56,410,762 (GRCm39) G1090C probably damaging Het
Pth1r A G 9: 110,560,692 (GRCm39) V25A probably damaging Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Ptprf T A 4: 118,068,219 (GRCm39) E1772D probably benign Het
Sall2 T C 14: 52,551,935 (GRCm39) H420R probably damaging Het
Sbds G A 5: 130,279,816 (GRCm39) R63W probably damaging Het
Sccpdh A G 1: 179,495,975 (GRCm39) T19A possibly damaging Het
Scn8a A T 15: 100,913,572 (GRCm39) D988V probably damaging Het
Slamf6 C T 1: 171,761,680 (GRCm39) Q34* probably null Het
Slc22a6 T A 19: 8,601,016 (GRCm39) I403N probably damaging Het
Sox5 T C 6: 143,781,042 (GRCm39) Y574C probably damaging Het
Sptbn5 T A 2: 119,889,897 (GRCm39) probably benign Het
Srcap T A 7: 127,137,716 (GRCm39) V1022E probably damaging Het
Tbx3 G A 5: 119,815,635 (GRCm39) E292K possibly damaging Het
Tbx5 A T 5: 119,979,964 (GRCm39) H170L probably damaging Het
Tcf12 A T 9: 71,776,249 (GRCm39) probably benign Het
Themis G A 10: 28,658,647 (GRCm39) R558H probably damaging Het
Tiam1 T C 16: 89,640,170 (GRCm39) E849G possibly damaging Het
Vav3 A G 3: 109,470,534 (GRCm39) probably benign Het
Vmn2r90 T A 17: 17,953,956 (GRCm39) C707S possibly damaging Het
Vmn2r96 T G 17: 18,803,270 (GRCm39) N201K probably benign Het
Zfp148 C T 16: 33,288,505 (GRCm39) R207C probably damaging Het
Zfp648 G T 1: 154,080,152 (GRCm39) A104S probably benign Het
Other mutations in Mdga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Mdga2 APN 12 66,769,883 (GRCm39) missense probably damaging 0.97
IGL01632:Mdga2 APN 12 66,676,672 (GRCm39) splice site probably benign
IGL01843:Mdga2 APN 12 66,769,905 (GRCm39) critical splice acceptor site probably null
IGL02230:Mdga2 APN 12 66,702,197 (GRCm39) nonsense probably null
IGL02348:Mdga2 APN 12 66,597,349 (GRCm39) missense probably damaging 1.00
IGL02473:Mdga2 APN 12 66,597,385 (GRCm39) missense possibly damaging 0.73
IGL02795:Mdga2 APN 12 66,736,206 (GRCm39) missense probably benign 0.00
IGL02901:Mdga2 APN 12 66,844,583 (GRCm39) splice site probably benign
IGL03373:Mdga2 APN 12 66,763,496 (GRCm39) missense probably damaging 0.99
PIT4362001:Mdga2 UTSW 12 66,844,542 (GRCm39) missense possibly damaging 0.83
PIT4377001:Mdga2 UTSW 12 66,763,469 (GRCm39) missense probably damaging 0.99
R0106:Mdga2 UTSW 12 66,763,480 (GRCm39) missense probably damaging 1.00
R0106:Mdga2 UTSW 12 66,763,480 (GRCm39) missense probably damaging 1.00
R0110:Mdga2 UTSW 12 66,517,700 (GRCm39) missense possibly damaging 0.66
R0218:Mdga2 UTSW 12 66,701,894 (GRCm39) missense probably damaging 1.00
R0450:Mdga2 UTSW 12 66,517,700 (GRCm39) missense possibly damaging 0.66
R0801:Mdga2 UTSW 12 66,533,507 (GRCm39) missense probably damaging 1.00
R0847:Mdga2 UTSW 12 66,769,854 (GRCm39) missense probably damaging 1.00
R1056:Mdga2 UTSW 12 66,769,894 (GRCm39) missense probably damaging 0.97
R1086:Mdga2 UTSW 12 66,552,876 (GRCm39) splice site probably benign
R1335:Mdga2 UTSW 12 66,763,516 (GRCm39) splice site probably null
R1382:Mdga2 UTSW 12 66,517,690 (GRCm39) missense possibly damaging 0.68
R1490:Mdga2 UTSW 12 66,844,530 (GRCm39) missense probably benign 0.01
R1521:Mdga2 UTSW 12 66,615,700 (GRCm39) missense probably benign 0.00
R1556:Mdga2 UTSW 12 66,597,367 (GRCm39) missense possibly damaging 0.92
R1676:Mdga2 UTSW 12 66,615,547 (GRCm39) nonsense probably null
R1676:Mdga2 UTSW 12 66,615,546 (GRCm39) missense probably damaging 1.00
R1698:Mdga2 UTSW 12 66,736,109 (GRCm39) missense probably damaging 0.97
R1954:Mdga2 UTSW 12 66,533,482 (GRCm39) splice site probably benign
R2069:Mdga2 UTSW 12 66,615,691 (GRCm39) nonsense probably null
R2077:Mdga2 UTSW 12 66,702,136 (GRCm39) missense probably damaging 1.00
R2118:Mdga2 UTSW 12 66,915,526 (GRCm39) missense probably damaging 1.00
R2146:Mdga2 UTSW 12 66,915,515 (GRCm39) missense probably damaging 1.00
R2158:Mdga2 UTSW 12 66,736,155 (GRCm39) missense possibly damaging 0.64
R2189:Mdga2 UTSW 12 66,519,970 (GRCm39) splice site probably null
R2293:Mdga2 UTSW 12 66,615,759 (GRCm39) nonsense probably null
R2886:Mdga2 UTSW 12 66,553,044 (GRCm39) splice site probably benign
R2960:Mdga2 UTSW 12 66,676,752 (GRCm39) nonsense probably null
R3937:Mdga2 UTSW 12 67,267,980 (GRCm39) unclassified probably benign
R4437:Mdga2 UTSW 12 66,519,972 (GRCm39) splice site probably null
R4514:Mdga2 UTSW 12 66,763,496 (GRCm39) missense probably damaging 0.99
R4719:Mdga2 UTSW 12 66,517,775 (GRCm39) unclassified probably benign
R4744:Mdga2 UTSW 12 66,844,501 (GRCm39) missense probably benign 0.01
R4756:Mdga2 UTSW 12 66,844,427 (GRCm39) missense probably damaging 1.00
R4781:Mdga2 UTSW 12 66,844,396 (GRCm39) splice site probably null
R5022:Mdga2 UTSW 12 66,517,534 (GRCm39) missense possibly damaging 0.83
R5108:Mdga2 UTSW 12 66,533,515 (GRCm39) missense probably benign 0.43
R5479:Mdga2 UTSW 12 66,701,950 (GRCm39) missense probably damaging 1.00
R5710:Mdga2 UTSW 12 66,553,556 (GRCm39) missense probably damaging 1.00
R5816:Mdga2 UTSW 12 66,701,956 (GRCm39) missense probably damaging 1.00
R5822:Mdga2 UTSW 12 66,702,109 (GRCm39) missense probably damaging 1.00
R5996:Mdga2 UTSW 12 66,844,537 (GRCm39) missense probably benign 0.00
R6038:Mdga2 UTSW 12 66,676,827 (GRCm39) missense probably damaging 1.00
R6038:Mdga2 UTSW 12 66,676,827 (GRCm39) missense probably damaging 1.00
R6297:Mdga2 UTSW 12 66,553,027 (GRCm39) missense probably damaging 1.00
R6484:Mdga2 UTSW 12 66,676,843 (GRCm39) missense possibly damaging 0.90
R6830:Mdga2 UTSW 12 66,769,775 (GRCm39) missense probably damaging 1.00
R6912:Mdga2 UTSW 12 66,552,889 (GRCm39) missense probably benign 0.01
R6971:Mdga2 UTSW 12 66,597,335 (GRCm39) missense probably damaging 1.00
R7053:Mdga2 UTSW 12 66,736,158 (GRCm39) missense probably benign 0.41
R7069:Mdga2 UTSW 12 66,533,526 (GRCm39) missense probably benign 0.31
R7381:Mdga2 UTSW 12 66,615,670 (GRCm39) missense probably benign 0.44
R7474:Mdga2 UTSW 12 66,533,535 (GRCm39) nonsense probably null
R7559:Mdga2 UTSW 12 66,520,003 (GRCm39) missense probably damaging 1.00
R7581:Mdga2 UTSW 12 66,553,029 (GRCm39) missense probably damaging 0.99
R7596:Mdga2 UTSW 12 66,552,897 (GRCm39) missense probably damaging 0.99
R7745:Mdga2 UTSW 12 66,736,125 (GRCm39) missense possibly damaging 0.63
R7745:Mdga2 UTSW 12 66,736,124 (GRCm39) missense probably damaging 0.99
R7852:Mdga2 UTSW 12 66,517,724 (GRCm39) missense possibly damaging 0.66
R8144:Mdga2 UTSW 12 66,702,037 (GRCm39) missense probably damaging 1.00
R8319:Mdga2 UTSW 12 67,267,803 (GRCm39) missense unknown
R8715:Mdga2 UTSW 12 66,915,526 (GRCm39) missense probably damaging 1.00
R8977:Mdga2 UTSW 12 66,844,409 (GRCm39) missense possibly damaging 0.88
R9138:Mdga2 UTSW 12 66,615,663 (GRCm39) missense possibly damaging 0.89
R9177:Mdga2 UTSW 12 66,517,481 (GRCm39) missense possibly damaging 0.66
R9223:Mdga2 UTSW 12 66,615,634 (GRCm39) missense possibly damaging 0.81
R9248:Mdga2 UTSW 12 66,736,226 (GRCm39) missense possibly damaging 0.87
R9264:Mdga2 UTSW 12 66,560,057 (GRCm39) missense probably damaging 1.00
R9381:Mdga2 UTSW 12 66,597,304 (GRCm39) missense possibly damaging 0.64
R9456:Mdga2 UTSW 12 66,615,532 (GRCm39) missense probably benign 0.44
R9633:Mdga2 UTSW 12 66,736,206 (GRCm39) missense probably benign 0.00
Z1176:Mdga2 UTSW 12 66,736,217 (GRCm39) missense probably damaging 1.00
Z1186:Mdga2 UTSW 12 66,615,727 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ATACCTATCCATGTGCAGAAGC -3'
(R):5'- TCAGGTGGACCAAAACAGC -3'

Sequencing Primer
(F):5'- GGTCTAGCAAACTTTATATGCCCCAG -3'
(R):5'- CAGGAAGCGCCTCTGACAG -3'
Posted On 2015-10-21