Incidental Mutation 'R9381:Mdga2'
ID 710053
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 068992-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9381 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 66512834-67269323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66597304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 730 (N730S)
Ref Sequence ENSEMBL: ENSMUSP00000046761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000222167] [ENSMUST00000222623] [ENSMUST00000222987] [ENSMUST00000223141]
AlphaFold P60755
Predicted Effect possibly damaging
Transcript: ENSMUST00000037181
AA Change: N730S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: N730S

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
SMART Domains Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: N720S

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: N661S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222623
AA Change: N2S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000222987
AA Change: N2S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223141
AA Change: N661S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
9930111J21Rik1 T A 11: 48,839,204 (GRCm39) K461M probably damaging Het
Abhd16b A G 2: 181,135,881 (GRCm39) Y261C probably damaging Het
Acadl T C 1: 66,893,805 (GRCm39) T117A probably benign Het
Adamts15 A G 9: 30,813,816 (GRCm39) V783A probably damaging Het
Aff1 A T 5: 103,981,733 (GRCm39) Q624L possibly damaging Het
Afg3l2 T G 18: 67,575,451 (GRCm39) E74A probably damaging Het
Aig1 T C 10: 13,523,417 (GRCm39) E238G probably benign Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Anks1 A T 17: 28,272,979 (GRCm39) Y958F probably damaging Het
Arhgef28 C A 13: 98,036,269 (GRCm39) Q1663H possibly damaging Het
Asb3 T C 11: 31,051,088 (GRCm39) L475P probably damaging Het
Atg9a T A 1: 75,162,726 (GRCm39) M430L probably benign Het
Bco1 T A 8: 117,837,631 (GRCm39) V164E probably benign Het
Bhlhe40 T C 6: 108,642,244 (GRCm39) L396P probably damaging Het
C5ar2 A T 7: 15,970,887 (GRCm39) S347T probably damaging Het
Cdc42bpa T C 1: 179,969,048 (GRCm39) S1212P probably damaging Het
Ceacam3 C G 7: 16,893,715 (GRCm39) Q409E Het
Ces3b T C 8: 105,811,670 (GRCm39) V62A probably benign Het
Dalrd3 A G 9: 108,448,242 (GRCm39) probably null Het
Ddhd2 G T 8: 26,239,849 (GRCm39) A288E probably benign Het
Dnah17 T A 11: 117,914,219 (GRCm39) M4435L probably benign Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
E030025P04Rik A G 11: 109,030,384 (GRCm39) Y168H unknown Het
Elavl2 T C 4: 91,197,009 (GRCm39) N23S probably benign Het
Elfn1 T C 5: 139,959,462 (GRCm39) V822A probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Exoc5 C T 14: 49,275,194 (GRCm39) S202N probably benign Het
Fryl T C 5: 73,240,637 (GRCm39) D1321G probably benign Het
Gm12258 C T 11: 58,750,007 (GRCm39) T394I unknown Het
Gm28363 T A 1: 117,654,615 (GRCm39) S85T probably damaging Het
H2-Q1 A G 17: 35,542,138 (GRCm39) T237A probably damaging Het
Hectd4 A T 5: 121,472,492 (GRCm39) I2743F possibly damaging Het
Hs3st3b1 C T 11: 63,812,692 (GRCm39) G8S probably benign Het
Ighv1-16 T C 12: 114,629,598 (GRCm39) N63S probably benign Het
Il20rb A G 9: 100,343,541 (GRCm39) F238L possibly damaging Het
Il31ra A T 13: 112,668,253 (GRCm39) F439I possibly damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kat2a T C 11: 100,602,692 (GRCm39) Q132R possibly damaging Het
Kcnq2 A G 2: 180,751,562 (GRCm39) I278T probably damaging Het
Lama1 T C 17: 68,044,479 (GRCm39) V126A Het
Lama2 T A 10: 27,064,023 (GRCm39) R1285* probably null Het
Larp1 A G 11: 57,949,532 (GRCm39) T1054A probably benign Het
Lrp1 A T 10: 127,441,337 (GRCm39) M262K probably benign Het
Lrrd1 A G 5: 3,901,074 (GRCm39) I460V probably benign Het
Ltbp1 A T 17: 75,696,434 (GRCm39) N1606I probably damaging Het
Mpzl1 T C 1: 165,429,323 (GRCm39) H236R probably damaging Het
Mrps31 G A 8: 22,904,752 (GRCm39) R47K probably damaging Het
Nae1 A T 8: 105,250,239 (GRCm39) I218K probably benign Het
Npy2r T C 3: 82,448,356 (GRCm39) T140A probably damaging Het
Nr2e1 T A 10: 42,439,468 (GRCm39) L350F probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or51d1 A T 7: 102,347,654 (GRCm39) M70L probably damaging Het
Or5b124 G T 19: 13,610,647 (GRCm39) M57I probably damaging Het
Or5p50 A C 7: 107,421,812 (GRCm39) L288W probably damaging Het
Pabpc1l G T 2: 163,867,423 (GRCm39) C8F probably benign Het
Pafah1b3 A C 7: 24,994,699 (GRCm39) F172V probably benign Het
Pcdhga6 A T 18: 37,841,371 (GRCm39) T364S probably damaging Het
Ppp3cc T A 14: 70,462,441 (GRCm39) M399L probably benign Het
Prpsap2 T C 11: 61,635,782 (GRCm39) I173V probably benign Het
Rabggtb A T 3: 153,613,817 (GRCm39) W252R probably damaging Het
Raph1 A G 1: 60,540,959 (GRCm39) F351L unknown Het
Rasd2 T C 8: 75,948,589 (GRCm39) S172P probably damaging Het
Rbm15 T C 3: 107,238,752 (GRCm39) T549A probably benign Het
Reln A G 5: 22,549,202 (GRCm39) Y69H possibly damaging Het
Samd3 T A 10: 26,147,643 (GRCm39) N439K probably benign Het
Scap C A 9: 110,207,839 (GRCm39) A516D probably damaging Het
Selplg T C 5: 113,957,917 (GRCm39) T130A probably benign Het
Slc12a7 A G 13: 73,949,063 (GRCm39) M697V probably benign Het
Slc22a29 A G 19: 8,195,841 (GRCm39) I66T probably benign Het
Slco1a7 T C 6: 141,711,490 (GRCm39) I74V probably benign Het
Snrnp48 A C 13: 38,404,667 (GRCm39) I241L probably damaging Het
Sptb C T 12: 76,634,292 (GRCm39) E2140K probably benign Het
Strip2 T C 6: 29,927,333 (GRCm39) S192P probably benign Het
Svil A T 18: 5,099,013 (GRCm39) R1643S probably benign Het
Tbc1d2b A G 9: 90,101,139 (GRCm39) V617A possibly damaging Het
Tmem102 T C 11: 69,695,141 (GRCm39) E277G probably benign Het
Tmtc4 T G 14: 123,163,441 (GRCm39) I648L probably benign Het
Togaram1 T C 12: 65,014,204 (GRCm39) V485A probably damaging Het
Trim43b T C 9: 88,969,642 (GRCm39) I269V probably benign Het
Trpm2 T A 10: 77,747,191 (GRCm39) I1436F possibly damaging Het
Ube2d3 A T 3: 135,168,722 (GRCm39) I106F possibly damaging Het
Vdr G A 15: 97,755,333 (GRCm39) R397C probably damaging Het
Vps50 T C 6: 3,592,433 (GRCm39) S689P probably benign Het
Wipf2 A G 11: 98,787,068 (GRCm39) T366A probably damaging Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zfyve28 G A 5: 34,373,932 (GRCm39) T694I 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
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
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
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'- AGGCTGAGAGGAAATAACTTCAATA -3'
(R):5'- TACAAGCAGAATAGTTCCTTATGGA -3'

Sequencing Primer
(F):5'- AGTCTGAAGAAGGGACTAC -3'
(R):5'- ATTCCTCTAAGCTGGGGCATCAAG -3'
Posted On 2022-04-18