Incidental Mutation 'R9177:Mdga2'
ID 696772
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 068949-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9177 (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 A at 66517481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 118 (T118S)
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: T118S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109575
Gene: ENSMUSG00000034912
AA Change: T118S

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
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,775,677 (GRCm39) V1622D probably damaging Het
Acadsb C T 7: 131,033,763 (GRCm39) T260I probably damaging Het
Acap2 A T 16: 30,955,392 (GRCm39) V161E probably damaging Het
Alk T C 17: 72,181,190 (GRCm39) T1367A probably damaging Het
Atg2a A C 19: 6,291,905 (GRCm39) H27P probably damaging Het
Atp2c1 C T 9: 105,336,858 (GRCm39) probably null Het
C1s1 T G 6: 124,508,362 (GRCm39) K542N probably damaging Het
Camk1d A G 2: 5,303,901 (GRCm39) S351P probably benign Het
Carf C A 1: 60,148,558 (GRCm39) Q85K possibly damaging Het
Caskin2 T C 11: 115,698,683 (GRCm39) N43S probably damaging Het
Cd40 T C 2: 164,905,465 (GRCm39) C161R probably damaging Het
Cdh19 A G 1: 110,877,111 (GRCm39) F76S probably damaging Het
Cdkl1 T C 12: 69,794,100 (GRCm39) N346D probably benign Het
Cdon A G 9: 35,381,230 (GRCm39) D540G probably benign Het
Cep164 T A 9: 45,691,060 (GRCm39) E379V probably damaging Het
Clock T C 5: 76,377,256 (GRCm39) N681S probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T G 9: 105,808,152 (GRCm39) K965N unknown Het
Dctn4 T A 18: 60,659,304 (GRCm39) M1K probably null Het
Dhx30 T C 9: 109,915,750 (GRCm39) D741G probably damaging Het
Dhx37 A G 5: 125,507,958 (GRCm39) V104A probably benign Het
Dnah12 A G 14: 26,571,255 (GRCm39) K2788R possibly damaging Het
Egfr T A 11: 16,855,410 (GRCm39) D898E probably damaging Het
Eif2ak4 G C 2: 118,271,701 (GRCm39) probably null Het
Eif6 A G 2: 155,665,852 (GRCm39) L101P probably damaging Het
Etaa1 A T 11: 17,896,419 (GRCm39) V566E probably damaging Het
Far2 C T 6: 148,060,418 (GRCm39) T257I probably benign Het
Fuca2 G A 10: 13,390,563 (GRCm39) W453* probably null Het
Galntl6 A T 8: 58,310,590 (GRCm39) Y370* probably null Het
Gcn1 T C 5: 115,719,867 (GRCm39) V374A probably benign Het
Hjv T C 3: 96,435,881 (GRCm39) F380L probably benign Het
Hycc2 T C 1: 58,591,361 (GRCm39) D94G probably damaging Het
Ifi202b A T 1: 173,804,949 (GRCm39) M1K probably null Het
Lama4 A G 10: 38,950,688 (GRCm39) Y997C probably damaging Het
Lepr T A 4: 101,602,798 (GRCm39) C195* probably null Het
Lrrc37 T A 11: 103,508,263 (GRCm39) H1235L unknown Het
Lrrc73 T C 17: 46,565,535 (GRCm39) S89P probably benign Het
Macf1 T C 4: 123,367,582 (GRCm39) E2393G probably damaging Het
Msantd5f3 T C 4: 73,575,373 (GRCm39) S351P probably damaging Het
Mtf2 A G 5: 108,234,949 (GRCm39) K124R probably benign Het
Muc5b T C 7: 141,399,075 (GRCm39) Y339H unknown Het
Nes G A 3: 87,887,012 (GRCm39) G1757E probably damaging Het
Nfatc4 A T 14: 56,064,685 (GRCm39) I391F probably damaging Het
Nup93 A T 8: 94,954,371 (GRCm39) I23F probably benign Het
Or4a27 A C 2: 88,559,174 (GRCm39) Y256* probably null Het
Or5h17 T G 16: 58,820,083 (GRCm39) F12V probably damaging Het
Or6y1 A C 1: 174,276,923 (GRCm39) T245P probably damaging Het
Or7g16 G T 9: 18,726,742 (GRCm39) Q283K probably damaging Het
Or9i14 A T 19: 13,792,388 (GRCm39) C189S probably damaging Het
Pak5 A C 2: 135,943,126 (GRCm39) M338R probably benign Het
Papola A G 12: 105,766,032 (GRCm39) E44G probably benign Het
Pcdh15 A T 10: 74,479,455 (GRCm39) E522V probably benign Het
Peli2 A G 14: 48,518,927 (GRCm39) E225G probably benign Het
Pla2g1b T G 5: 115,612,595 (GRCm39) I117S probably damaging Het
Plxnd1 G T 6: 115,943,469 (GRCm39) Q1246K probably benign Het
Pole A G 5: 110,480,288 (GRCm39) E1953G probably benign Het
Pus7l T C 15: 94,431,445 (GRCm39) I395V probably benign Het
Shisa7 T G 7: 4,837,333 (GRCm39) D244A probably damaging Het
Slco3a1 T C 7: 73,952,946 (GRCm39) T538A probably benign Het
Syk T A 13: 52,766,480 (GRCm39) N188K probably benign Het
Tcf20 A G 15: 82,740,705 (GRCm39) S249P probably benign Het
Tmem25 T C 9: 44,709,529 (GRCm39) T91A possibly damaging Het
Trank1 T C 9: 111,221,579 (GRCm39) V2772A probably benign Het
Ttn A T 2: 76,596,447 (GRCm39) Y20155* probably null Het
Uchl4 C T 9: 64,142,986 (GRCm39) H156Y probably benign Het
Ulbp1 A T 10: 7,396,392 (GRCm39) L295Q unknown Het
Vwf G A 6: 125,581,254 (GRCm39) A631T Het
Zfp810 C T 9: 22,189,936 (GRCm39) C324Y probably damaging Het
Zswim8 T C 14: 20,761,908 (GRCm39) L227P 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
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
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'- CAAACCATTGTTAGCAGTGCAAG -3'
(R):5'- AAAGGTTTCATATCCCTCCCCG -3'

Sequencing Primer
(F):5'- TAGCAGTGCAAGCTTCTGAG -3'
(R):5'- ACCCCACTTTTACTGTTGTTTGGG -3'
Posted On 2022-02-07