Incidental Mutation 'R0110:Mdga2'
ID 20404
Institutional Source Beutler Lab
Gene Symbol Mdga2
Ensembl Gene ENSMUSG00000034912
Gene Name MAM domain containing glycosylphosphatidylinositol anchor 2
Synonyms Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2
MMRRC Submission 038396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0110 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 66466060-67222549 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66470926 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 45 (K45E)
Ref Sequence ENSEMBL: ENSMUSP00000109575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000113942] [ENSMUST00000222167] [ENSMUST00000222623] [ENSMUST00000222987] [ENSMUST00000223141]
AlphaFold P60755
Predicted Effect probably benign
Transcript: ENSMUST00000037181
SMART Domains Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912

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 possibly damaging
Transcript: ENSMUST00000113942
AA Change: K45E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109575
Gene: ENSMUSG00000034912
AA Change: K45E

DomainStartEndE-ValueType
transmembrane domain 60 91 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178814
SMART Domains Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912

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 probably benign
Transcript: ENSMUST00000222167
Predicted Effect probably benign
Transcript: ENSMUST00000222623
Predicted Effect probably benign
Transcript: ENSMUST00000222987
Predicted Effect probably benign
Transcript: ENSMUST00000223141
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.0%
Validation Efficiency 98% (105/107)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 60,853,506 (GRCm38) probably benign Het
Abcg3 A G 5: 104,977,616 (GRCm38) I67T probably damaging Het
Adam10 T A 9: 70,748,248 (GRCm38) W333R probably damaging Het
Ahnak C T 19: 9,018,232 (GRCm38) R5627* probably null Het
AI606181 A C 19: 41,593,731 (GRCm38) K113N unknown Het
Alms1 A T 6: 85,620,369 (GRCm38) R1195* probably null Het
Ankrd11 T C 8: 122,892,175 (GRCm38) D1646G possibly damaging Het
Ap2m1 T A 16: 20,542,240 (GRCm38) I334N possibly damaging Het
Arpc1b T A 5: 145,127,715 (GRCm38) W361R probably damaging Het
Baiap2l1 T C 5: 144,275,891 (GRCm38) Y438C probably damaging Het
Brd8dc A T 18: 34,596,151 (GRCm38) D42E probably damaging Het
Ccdc110 T A 8: 45,935,157 (GRCm38) N50K probably benign Het
Ccdc168 C A 1: 44,059,224 (GRCm38) V905F probably benign Het
Cdhr1 T C 14: 37,080,676 (GRCm38) Y610C probably damaging Het
Celsr3 G A 9: 108,827,005 (GRCm38) C229Y possibly damaging Het
Clca4b A T 3: 144,913,351 (GRCm38) Y676N probably damaging Het
Cntln C T 4: 85,096,757 (GRCm38) T1095I probably damaging Het
Cog2 T C 8: 124,529,058 (GRCm38) probably null Het
Col11a1 A T 3: 114,105,456 (GRCm38) probably benign Het
Cpe T A 8: 64,611,467 (GRCm38) I233F probably damaging Het
Dcaf11 T C 14: 55,569,080 (GRCm38) V446A probably damaging Het
Defa34 A G 8: 21,665,972 (GRCm38) probably null Het
Dnah12 A G 14: 26,798,899 (GRCm38) R1892G probably damaging Het
Dock4 A G 12: 40,621,312 (GRCm38) probably benign Het
Dync1h1 C A 12: 110,639,944 (GRCm38) Q2483K probably benign Het
Enpp3 A T 10: 24,776,781 (GRCm38) D759E probably damaging Het
Epyc A G 10: 97,649,763 (GRCm38) T22A probably benign Het
Fam227b T A 2: 126,100,921 (GRCm38) S319C probably damaging Het
Fam83a C A 15: 58,009,926 (GRCm38) Q384K probably benign Het
Fam83b G T 9: 76,492,826 (GRCm38) L332I possibly damaging Het
Gal3st2c C T 1: 94,009,497 (GRCm38) P388L probably benign Het
Ggn C T 7: 29,171,296 (GRCm38) P47S probably damaging Het
Gli3 T G 13: 15,724,785 (GRCm38) L919R probably damaging Het
Gm5134 C A 10: 75,974,245 (GRCm38) T120N probably benign Het
Gmip C T 8: 69,815,609 (GRCm38) probably benign Het
Gpr39 C T 1: 125,677,500 (GRCm38) T55M probably damaging Het
Grk4 A G 5: 34,716,213 (GRCm38) T208A probably damaging Het
Gsdme C A 6: 50,246,127 (GRCm38) probably benign Het
Gucy2e T C 11: 69,235,576 (GRCm38) D326G probably benign Het
Hadhb T C 5: 30,169,485 (GRCm38) probably benign Het
Hectd4 G A 5: 121,305,673 (GRCm38) E1319K possibly damaging Het
Hectd4 T A 5: 121,281,896 (GRCm38) Y635N possibly damaging Het
Ikbkb A T 8: 22,671,635 (GRCm38) C412* probably null Het
Itpa A T 2: 130,679,418 (GRCm38) probably benign Het
Klhl10 A G 11: 100,456,932 (GRCm38) T605A probably benign Het
Krt74 T C 15: 101,763,316 (GRCm38) noncoding transcript Het
Krt81 C A 15: 101,463,627 (GRCm38) R24L possibly damaging Het
Lap3 T C 5: 45,495,290 (GRCm38) probably benign Het
Lrrc10 T A 10: 117,045,790 (GRCm38) L123Q probably damaging Het
Map3k6 T C 4: 133,243,794 (GRCm38) L273P probably damaging Het
Mbl1 A G 14: 41,158,749 (GRCm38) N198S probably damaging Het
Mcf2l A G 8: 12,997,337 (GRCm38) D233G probably damaging Het
Mdn1 A G 4: 32,738,619 (GRCm38) N3524S probably benign Het
Mrc1 T A 2: 14,238,542 (GRCm38) probably benign Het
Msto1 A G 3: 88,911,541 (GRCm38) L269P probably benign Het
Mtcl1 C T 17: 66,358,114 (GRCm38) E1149K possibly damaging Het
Naca C T 10: 128,044,790 (GRCm38) A1897V probably benign Het
Ncapg T C 5: 45,693,147 (GRCm38) probably benign Het
Neb A T 2: 52,290,743 (GRCm38) probably benign Het
Or5p5 T C 7: 107,814,688 (GRCm38) Y35H probably damaging Het
Or8b12i T C 9: 20,171,265 (GRCm38) Y102C probably benign Het
Or8g27 G A 9: 39,217,728 (GRCm38) V124I possibly damaging Het
Parp2 T A 14: 50,819,673 (GRCm38) Y361N probably damaging Het
Parp3 A G 9: 106,471,796 (GRCm38) F466L possibly damaging Het
Pcdh15 A T 10: 74,290,976 (GRCm38) N296Y probably damaging Het
Pcf11 G A 7: 92,657,831 (GRCm38) P1043L probably damaging Het
Pdzrn3 A T 6: 101,151,053 (GRCm38) I884N probably damaging Het
Phf24 G T 4: 42,933,761 (GRCm38) V48L possibly damaging Het
Pla2g4a T A 1: 149,840,647 (GRCm38) M688L possibly damaging Het
Plcl2 T C 17: 50,607,982 (GRCm38) L673P probably damaging Het
Ppp1r3c A T 19: 36,734,217 (GRCm38) F51Y possibly damaging Het
Prmt1 A G 7: 44,978,801 (GRCm38) probably benign Het
Proc G A 18: 32,125,118 (GRCm38) T258I probably benign Het
Prom2 T G 2: 127,531,113 (GRCm38) S679R possibly damaging Het
Psen2 T C 1: 180,238,914 (GRCm38) T153A probably damaging Het
Rem2 T C 14: 54,476,297 (GRCm38) probably benign Het
Rin2 A G 2: 145,861,033 (GRCm38) K550E probably benign Het
Rtn4 T A 11: 29,733,849 (GRCm38) probably benign Het
Semp2l1 T A 1: 32,545,875 (GRCm38) N318I possibly damaging Het
Ssh1 A T 5: 113,946,705 (GRCm38) D448E probably benign Het
Ssmem1 A T 6: 30,519,548 (GRCm38) probably null Het
Stam2 A T 2: 52,719,986 (GRCm38) probably benign Het
Syne1 A G 10: 5,367,600 (GRCm38) L498P probably damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,097,960 (GRCm38) probably null Het
Taf6l G T 19: 8,778,521 (GRCm38) H254Q probably benign Het
Tas2r123 T C 6: 132,847,332 (GRCm38) V64A probably benign Het
Tnnc1 A G 14: 31,211,408 (GRCm38) D149G probably damaging Het
Tpp2 T A 1: 43,978,504 (GRCm38) V756E probably benign Het
Tpp2 A G 1: 43,999,693 (GRCm38) D1133G probably damaging Het
Traf3ip3 T A 1: 193,178,231 (GRCm38) probably null Het
Tsen15 A G 1: 152,371,797 (GRCm38) V148A probably damaging Het
Ttn T A 2: 76,864,328 (GRCm38) probably benign Het
Ube2u A G 4: 100,486,673 (GRCm38) I90V probably benign Het
Unc79 T A 12: 103,079,070 (GRCm38) probably null Het
Usp47 T C 7: 112,056,580 (GRCm38) S155P possibly damaging Het
Wdr41 T C 13: 95,018,111 (GRCm38) probably benign Het
Zfp217 C T 2: 170,115,462 (GRCm38) A539T probably benign Het
Zfp423 A G 8: 87,782,259 (GRCm38) S486P possibly damaging Het
Zfp628 A T 7: 4,919,733 (GRCm38) Q318L probably benign Het
Other mutations in Mdga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Mdga2 APN 12 66,723,109 (GRCm38) missense probably damaging 0.97
IGL01632:Mdga2 APN 12 66,629,898 (GRCm38) splice site probably benign
IGL01843:Mdga2 APN 12 66,723,131 (GRCm38) critical splice acceptor site probably null
IGL02230:Mdga2 APN 12 66,655,423 (GRCm38) nonsense probably null
IGL02348:Mdga2 APN 12 66,550,575 (GRCm38) missense probably damaging 1.00
IGL02473:Mdga2 APN 12 66,550,611 (GRCm38) missense possibly damaging 0.73
IGL02795:Mdga2 APN 12 66,689,432 (GRCm38) missense probably benign 0.00
IGL02901:Mdga2 APN 12 66,797,809 (GRCm38) splice site probably benign
IGL03373:Mdga2 APN 12 66,716,722 (GRCm38) missense probably damaging 0.99
PIT4362001:Mdga2 UTSW 12 66,797,768 (GRCm38) missense possibly damaging 0.83
PIT4377001:Mdga2 UTSW 12 66,716,695 (GRCm38) missense probably damaging 0.99
R0106:Mdga2 UTSW 12 66,716,706 (GRCm38) missense probably damaging 1.00
R0106:Mdga2 UTSW 12 66,716,706 (GRCm38) missense probably damaging 1.00
R0218:Mdga2 UTSW 12 66,655,120 (GRCm38) missense probably damaging 1.00
R0450:Mdga2 UTSW 12 66,470,926 (GRCm38) missense possibly damaging 0.66
R0801:Mdga2 UTSW 12 66,486,733 (GRCm38) missense probably damaging 1.00
R0847:Mdga2 UTSW 12 66,723,080 (GRCm38) missense probably damaging 1.00
R1056:Mdga2 UTSW 12 66,723,120 (GRCm38) missense probably damaging 0.97
R1086:Mdga2 UTSW 12 66,506,102 (GRCm38) splice site probably benign
R1335:Mdga2 UTSW 12 66,716,742 (GRCm38) splice site probably null
R1382:Mdga2 UTSW 12 66,470,916 (GRCm38) missense possibly damaging 0.68
R1490:Mdga2 UTSW 12 66,797,756 (GRCm38) missense probably benign 0.01
R1521:Mdga2 UTSW 12 66,568,926 (GRCm38) missense probably benign 0.00
R1556:Mdga2 UTSW 12 66,550,593 (GRCm38) missense possibly damaging 0.92
R1676:Mdga2 UTSW 12 66,568,773 (GRCm38) nonsense probably null
R1676:Mdga2 UTSW 12 66,568,772 (GRCm38) missense probably damaging 1.00
R1698:Mdga2 UTSW 12 66,689,335 (GRCm38) missense probably damaging 0.97
R1954:Mdga2 UTSW 12 66,486,708 (GRCm38) splice site probably benign
R2069:Mdga2 UTSW 12 66,568,917 (GRCm38) nonsense probably null
R2077:Mdga2 UTSW 12 66,655,362 (GRCm38) missense probably damaging 1.00
R2118:Mdga2 UTSW 12 66,868,752 (GRCm38) missense probably damaging 1.00
R2146:Mdga2 UTSW 12 66,868,741 (GRCm38) missense probably damaging 1.00
R2158:Mdga2 UTSW 12 66,689,381 (GRCm38) missense possibly damaging 0.64
R2189:Mdga2 UTSW 12 66,473,196 (GRCm38) splice site probably null
R2293:Mdga2 UTSW 12 66,568,985 (GRCm38) nonsense probably null
R2886:Mdga2 UTSW 12 66,506,270 (GRCm38) splice site probably benign
R2960:Mdga2 UTSW 12 66,629,978 (GRCm38) nonsense probably null
R3937:Mdga2 UTSW 12 67,221,206 (GRCm38) unclassified probably benign
R4437:Mdga2 UTSW 12 66,473,198 (GRCm38) splice site probably null
R4514:Mdga2 UTSW 12 66,716,722 (GRCm38) missense probably damaging 0.99
R4693:Mdga2 UTSW 12 66,797,633 (GRCm38) missense possibly damaging 0.81
R4719:Mdga2 UTSW 12 66,471,001 (GRCm38) unclassified probably benign
R4744:Mdga2 UTSW 12 66,797,727 (GRCm38) missense probably benign 0.01
R4756:Mdga2 UTSW 12 66,797,653 (GRCm38) missense probably damaging 1.00
R4781:Mdga2 UTSW 12 66,797,622 (GRCm38) splice site probably null
R5022:Mdga2 UTSW 12 66,470,760 (GRCm38) missense possibly damaging 0.83
R5108:Mdga2 UTSW 12 66,486,741 (GRCm38) missense probably benign 0.43
R5479:Mdga2 UTSW 12 66,655,176 (GRCm38) missense probably damaging 1.00
R5710:Mdga2 UTSW 12 66,506,782 (GRCm38) missense probably damaging 1.00
R5816:Mdga2 UTSW 12 66,655,182 (GRCm38) missense probably damaging 1.00
R5822:Mdga2 UTSW 12 66,655,335 (GRCm38) missense probably damaging 1.00
R5996:Mdga2 UTSW 12 66,797,763 (GRCm38) missense probably benign 0.00
R6038:Mdga2 UTSW 12 66,630,053 (GRCm38) missense probably damaging 1.00
R6038:Mdga2 UTSW 12 66,630,053 (GRCm38) missense probably damaging 1.00
R6297:Mdga2 UTSW 12 66,506,253 (GRCm38) missense probably damaging 1.00
R6484:Mdga2 UTSW 12 66,630,069 (GRCm38) missense possibly damaging 0.90
R6830:Mdga2 UTSW 12 66,723,001 (GRCm38) missense probably damaging 1.00
R6912:Mdga2 UTSW 12 66,506,115 (GRCm38) missense probably benign 0.01
R6971:Mdga2 UTSW 12 66,550,561 (GRCm38) missense probably damaging 1.00
R7053:Mdga2 UTSW 12 66,689,384 (GRCm38) missense probably benign 0.41
R7069:Mdga2 UTSW 12 66,486,752 (GRCm38) missense probably benign 0.31
R7381:Mdga2 UTSW 12 66,568,896 (GRCm38) missense probably benign 0.44
R7474:Mdga2 UTSW 12 66,486,761 (GRCm38) nonsense probably null
R7559:Mdga2 UTSW 12 66,473,229 (GRCm38) missense probably damaging 1.00
R7581:Mdga2 UTSW 12 66,506,255 (GRCm38) missense probably damaging 0.99
R7596:Mdga2 UTSW 12 66,506,123 (GRCm38) missense probably damaging 0.99
R7745:Mdga2 UTSW 12 66,689,351 (GRCm38) missense possibly damaging 0.63
R7745:Mdga2 UTSW 12 66,689,350 (GRCm38) missense probably damaging 0.99
R7852:Mdga2 UTSW 12 66,470,950 (GRCm38) missense possibly damaging 0.66
R8144:Mdga2 UTSW 12 66,655,263 (GRCm38) missense probably damaging 1.00
R8319:Mdga2 UTSW 12 67,221,029 (GRCm38) missense unknown
R8715:Mdga2 UTSW 12 66,868,752 (GRCm38) missense probably damaging 1.00
R8977:Mdga2 UTSW 12 66,797,635 (GRCm38) missense possibly damaging 0.88
R9138:Mdga2 UTSW 12 66,568,889 (GRCm38) missense possibly damaging 0.89
R9177:Mdga2 UTSW 12 66,470,707 (GRCm38) missense possibly damaging 0.66
R9223:Mdga2 UTSW 12 66,568,860 (GRCm38) missense possibly damaging 0.81
R9248:Mdga2 UTSW 12 66,689,452 (GRCm38) missense possibly damaging 0.87
R9264:Mdga2 UTSW 12 66,513,283 (GRCm38) missense probably damaging 1.00
R9381:Mdga2 UTSW 12 66,550,530 (GRCm38) missense possibly damaging 0.64
R9456:Mdga2 UTSW 12 66,568,758 (GRCm38) missense probably benign 0.44
R9633:Mdga2 UTSW 12 66,689,432 (GRCm38) missense probably benign 0.00
Z1176:Mdga2 UTSW 12 66,689,443 (GRCm38) missense probably damaging 1.00
Z1186:Mdga2 UTSW 12 66,568,953 (GRCm38) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GCAAGCAAACTCCGATAAGCCTGTG -3'
(R):5'- TGGAAACCTAATGGCCTGCCAAC -3'

Sequencing Primer
(F):5'- CCAGGTTTACCATCCTGGATAGTAG -3'
(R):5'- CAAAAACCTCACTGTAAACAGGG -3'
Posted On 2013-04-11