Incidental Mutation 'R5108:Mdga2'
ID 393691
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 042696-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5108 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 66512834-67269323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66533515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 223 (H223Q)
Ref Sequence ENSEMBL: ENSMUSP00000152049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000222167] [ENSMUST00000222623] [ENSMUST00000222987] [ENSMUST00000223141]
AlphaFold P60755
Predicted Effect probably benign
Transcript: ENSMUST00000037181
AA Change: H951Q

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: H951Q

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: ENSMUST00000178724
Predicted Effect unknown
Transcript: ENSMUST00000178814
AA Change: H934Q
SMART Domains Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: H934Q

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
AA Change: H882Q

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000222623
AA Change: H223Q

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222736
Predicted Effect probably benign
Transcript: ENSMUST00000222987
AA Change: H223Q

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000223141
AA Change: H875Q

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.1048 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,094,207 (GRCm39) N94Y probably damaging Het
Ak2 A G 4: 128,896,034 (GRCm39) T104A probably damaging Het
Alox12b G T 11: 69,048,208 (GRCm39) A46S probably benign Het
Ank1 G T 8: 23,622,571 (GRCm39) V1662F probably benign Het
Anxa3 T C 5: 96,978,273 (GRCm39) I219T possibly damaging Het
Aoc1l3 C T 6: 48,965,504 (GRCm39) T504I probably damaging Het
Arhgap40 G A 2: 158,389,599 (GRCm39) V588M probably damaging Het
Arhgef38 T C 3: 132,843,029 (GRCm39) T514A probably benign Het
Ascl4 C A 10: 85,764,422 (GRCm39) A23E probably benign Het
Bcl11b T C 12: 107,931,985 (GRCm39) T196A probably benign Het
C1ra A T 6: 124,499,881 (GRCm39) Y689F probably damaging Het
Ccr3 A G 9: 123,828,968 (GRCm39) N101S probably benign Het
Cep70 A T 9: 99,145,865 (GRCm39) probably null Het
Ces1b A G 8: 93,798,541 (GRCm39) V215A probably damaging Het
Cndp1 A T 18: 84,650,186 (GRCm39) I169N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo2 A G 4: 148,250,486 (GRCm39) Q275R probably damaging Het
Fbxo44 T C 4: 148,243,020 (GRCm39) N133S probably damaging Het
Fzr1 C T 10: 81,205,284 (GRCm39) probably benign Het
Grn T C 11: 102,325,228 (GRCm39) S213P probably benign Het
Ifi203 A T 1: 173,751,580 (GRCm39) C414S probably damaging Het
Igfn1 C T 1: 135,910,179 (GRCm39) R135H probably benign Het
Kcnk10 T C 12: 98,401,560 (GRCm39) M358V probably benign Het
Kcnn2 A T 18: 45,725,122 (GRCm39) Y471F probably damaging Het
Klhl20 A T 1: 160,926,820 (GRCm39) V391E probably damaging Het
Krt1c C T 15: 101,721,721 (GRCm39) G440D possibly damaging Het
Lpin1 A T 12: 16,623,716 (GRCm39) Y223N probably benign Het
Luzp2 G A 7: 54,915,038 (GRCm39) C321Y probably damaging Het
Mcm3ap T C 10: 76,338,536 (GRCm39) V1388A probably benign Het
Mgat4e G T 1: 134,468,961 (GRCm39) P361Q probably benign Het
Mylk3 A T 8: 86,085,721 (GRCm39) I208N possibly damaging Het
Myom2 T A 8: 15,182,667 (GRCm39) V1368E probably damaging Het
Mypn C T 10: 62,972,073 (GRCm39) D656N probably damaging Het
Nat10 C A 2: 103,562,548 (GRCm39) R596L probably damaging Het
Nek8 T C 11: 78,063,353 (GRCm39) D137G probably damaging Het
Neurl1a A G 19: 47,246,074 (GRCm39) K552E probably damaging Het
Npdc1 C T 2: 25,298,667 (GRCm39) H260Y probably damaging Het
Nuggc A T 14: 65,876,129 (GRCm39) I581F probably damaging Het
Or8d23 T A 9: 38,842,151 (GRCm39) I228N probably damaging Het
P2rx6 T C 16: 17,380,037 (GRCm39) Y54H probably damaging Het
Pcmtd2 A G 2: 181,486,216 (GRCm39) E112G probably damaging Het
Pcnx4 G A 12: 72,620,855 (GRCm39) V892I probably benign Het
Pdss1 T A 2: 22,796,895 (GRCm39) V136E possibly damaging Het
Pias3 T C 3: 96,612,253 (GRCm39) L561P possibly damaging Het
Pomgnt1 G A 4: 116,013,453 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Sec24d T A 3: 123,099,434 (GRCm39) probably null Het
Sftpb T G 6: 72,281,640 (GRCm39) L11R probably damaging Het
Slc22a19 A G 19: 7,688,536 (GRCm39) I8T probably benign Het
Slc22a30 A G 19: 8,363,790 (GRCm39) S266P probably damaging Het
Slc36a2 C A 11: 55,050,214 (GRCm39) G465W probably damaging Het
Slc4a2 G A 5: 24,644,331 (GRCm39) M976I probably damaging Het
Smcr8 C T 11: 60,670,696 (GRCm39) Q615* probably null Het
Sobp T C 10: 43,036,815 (GRCm39) E41G probably damaging Het
Spopfm1 C T 3: 94,173,142 (GRCm39) S50L probably damaging Het
Spz1 A T 13: 92,711,554 (GRCm39) C307* probably null Het
Sult1d1 C T 5: 87,711,728 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,668 (GRCm39) M233T probably damaging Het
Tmc3 C A 7: 83,269,156 (GRCm39) S781R probably damaging Het
Tmem234 G T 4: 129,495,730 (GRCm39) probably benign Het
Trpm3 A T 19: 22,882,078 (GRCm39) Q645L probably benign Het
Ttn C A 2: 76,565,055 (GRCm39) V28391F probably damaging Het
Txnrd3 G T 6: 89,650,016 (GRCm39) A425S probably benign Het
Ubr1 C T 2: 120,793,903 (GRCm39) G94R probably benign Het
Ufl1 A G 4: 25,269,026 (GRCm39) probably null Het
Utp20 T C 10: 88,604,735 (GRCm39) D1720G probably benign Het
Vmn1r13 T A 6: 57,186,901 (GRCm39) M20K probably benign Het
Vmn1r61 A G 7: 5,613,519 (GRCm39) I265T probably benign Het
Zfp120 T C 2: 149,961,862 (GRCm39) T29A probably damaging 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
R4693:Mdga2 UTSW 12 66,844,407 (GRCm39) missense possibly damaging 0.81
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
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'- GATTACTATGCAAATACCTTGAGGG -3'
(R):5'- TGCTCATAAATGTTTGACCAAAGAG -3'

Sequencing Primer
(F):5'- CATGAAGGCATGTGTCACTATGC -3'
(R):5'- TGACCAAAGAGAAATAAACTTGAAGC -3'
Posted On 2016-06-15