Incidental Mutation 'R7559:Mdga2'
ID 584971
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 045653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7559 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 66512834-67269323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 66520003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 988 (C988G)
Ref Sequence ENSEMBL: ENSMUSP00000046761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000113942] [ENSMUST00000222167] [ENSMUST00000222623] [ENSMUST00000222987] [ENSMUST00000223141]
AlphaFold P60755
Predicted Effect probably damaging
Transcript: ENSMUST00000037181
AA Change: C988G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: C988G

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 probably benign
Transcript: ENSMUST00000113942
SMART Domains Protein: ENSMUSP00000109575
Gene: ENSMUSG00000034912

DomainStartEndE-ValueType
transmembrane domain 60 91 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: C971G

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 damaging
Transcript: ENSMUST00000222167
AA Change: C919G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222623
AA Change: C260G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222987
AA Change: C260G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223141
AA Change: C912G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C A 5: 139,265,295 (GRCm39) R206L probably damaging Het
Adcy3 A G 12: 4,248,440 (GRCm39) K501E probably benign Het
Agl T C 3: 116,545,764 (GRCm39) D679G Het
Ankrd10 A T 8: 11,662,548 (GRCm39) V395D probably damaging Het
Ano5 A G 7: 51,224,636 (GRCm39) I531V probably damaging Het
Apol9a T A 15: 77,288,761 (GRCm39) H202L possibly damaging Het
Atp6v1c2 A C 12: 17,351,215 (GRCm39) I105M probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Coro1b T C 19: 4,200,220 (GRCm39) probably null Het
D930020B18Rik A G 10: 121,492,131 (GRCm39) probably benign Het
Dcst2 T C 3: 89,276,021 (GRCm39) F384S possibly damaging Het
Ddx39a T A 8: 84,447,595 (GRCm39) F147I possibly damaging Het
Drosha A G 15: 12,842,508 (GRCm39) E393G probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fam20c G T 5: 138,778,954 (GRCm39) E287D possibly damaging Het
Flnc T A 6: 29,459,009 (GRCm39) D2463E probably damaging Het
Flt4 A T 11: 49,535,198 (GRCm39) I1209F possibly damaging Het
Foxp1 T C 6: 98,922,521 (GRCm39) D437G unknown Het
Fras1 T C 5: 96,888,713 (GRCm39) V2753A possibly damaging Het
Ftsj3 T C 11: 106,143,813 (GRCm39) D277G possibly damaging Het
Gad1 T C 2: 70,394,256 (GRCm39) probably null Het
Gal3st2c A G 1: 93,937,075 (GRCm39) Y340C probably damaging Het
Gbp9 A G 5: 105,232,975 (GRCm39) F226L probably damaging Het
Gm11992 C T 11: 9,002,747 (GRCm39) P37S possibly damaging Het
Gm19668 G T 10: 77,634,572 (GRCm39) C132* probably null Het
Hdac3 A T 18: 38,078,569 (GRCm39) F139I possibly damaging Het
Hectd4 A G 5: 121,453,573 (GRCm39) probably null Het
Helz T A 11: 107,491,104 (GRCm39) S162T possibly damaging Het
Hspb6 C A 7: 30,253,712 (GRCm39) S75Y probably damaging Het
Il17rb T A 14: 29,719,000 (GRCm39) I361F probably damaging Het
Iqsec3 A T 6: 121,364,739 (GRCm39) V850D probably damaging Het
Knl1 A G 2: 118,924,487 (GRCm39) E1840G possibly damaging Het
Lamc3 A G 2: 31,812,380 (GRCm39) K939R probably benign Het
Lmo7 C T 14: 102,124,662 (GRCm39) R496* probably null Het
Lsm14a A T 7: 34,052,826 (GRCm39) C374* probably null Het
Luc7l T C 17: 26,474,089 (GRCm39) L49P probably damaging Het
Mtf1 T C 4: 124,713,999 (GRCm39) V136A probably damaging Het
Myo7b T A 18: 32,116,413 (GRCm39) I1016F probably benign Het
Nadsyn1 C A 7: 143,361,804 (GRCm39) A306S probably benign Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Opcml A T 9: 28,814,620 (GRCm39) T291S probably benign Het
Or13a24 T A 7: 140,154,356 (GRCm39) C97S probably damaging Het
Or52u1 C A 7: 104,237,087 (GRCm39) H25Q probably damaging Het
Or56b1b C T 7: 108,164,763 (GRCm39) A80T probably damaging Het
Osbp2 C G 11: 3,662,493 (GRCm39) K196N probably damaging Het
Otoa T C 7: 120,743,149 (GRCm39) V792A probably damaging Het
Pcmtd1 A G 1: 7,239,766 (GRCm39) D245G probably damaging Het
Pcnx1 T C 12: 82,039,896 (GRCm39) V1428A unknown Het
Pik3r4 A G 9: 105,555,352 (GRCm39) H1103R probably benign Het
Pjvk C T 2: 76,486,154 (GRCm39) H185Y probably benign Het
Pkd1l3 T C 8: 110,351,072 (GRCm39) V639A probably benign Het
Pklr T C 3: 89,050,365 (GRCm39) S405P probably damaging Het
Pla2g12a T A 3: 129,672,569 (GRCm39) Y68N probably damaging Het
Proz A G 8: 13,113,455 (GRCm39) H92R probably benign Het
Sec23ip G T 7: 128,379,074 (GRCm39) V844F possibly damaging Het
Sema3f A G 9: 107,561,777 (GRCm39) V520A possibly damaging Het
Serpinb12 A G 1: 106,881,453 (GRCm39) I197V probably damaging Het
Sim2 A T 16: 93,910,218 (GRCm39) I207F possibly damaging Het
Slc15a2 C T 16: 36,572,259 (GRCm39) V702I probably benign Het
Slc35f4 T C 14: 49,541,732 (GRCm39) I341V probably benign Het
Spam1 A G 6: 24,800,452 (GRCm39) Y397C probably damaging Het
Spire1 A T 18: 67,634,187 (GRCm39) M417K probably benign Het
Srcap T C 7: 127,129,722 (GRCm39) S515P unknown Het
Tfrc T A 16: 32,440,235 (GRCm39) probably null Het
Topors A G 4: 40,261,401 (GRCm39) S628P unknown Het
Trim71 T C 9: 114,342,110 (GRCm39) Y724C probably damaging Het
Ttn C T 2: 76,623,199 (GRCm39) V15413I probably damaging Het
Vmn1r21 A T 6: 57,821,227 (GRCm39) N72K probably damaging Het
Vmn2r80 A T 10: 79,030,459 (GRCm39) M762L probably benign Het
Wdr62 A G 7: 29,970,198 (GRCm39) I203T 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
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
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'- ATGGCCACATTGCACTAGC -3'
(R):5'- TCTGGGCTTTAACAGATATGCAAAC -3'

Sequencing Primer
(F):5'- GCTTTTTGACTTAAGCATACCTTGG -3'
(R):5'- GGCTTTAACAGATATGCAAACCATTG -3'
Posted On 2019-10-17