Incidental Mutation 'PIT4362001:Mdga2'
ID 554644
Institutional Source Beutler Lab
Gene Symbol Mdga2
Ensembl Gene ENSMUSG00000034912
Gene Name MAM domain containing glycosylphosphatidylinositol anchor 2
Synonyms Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4362001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 66466060-67222549 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66797768 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 152 (D152G)
Ref Sequence ENSEMBL: ENSMUSP00000046761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000222167] [ENSMUST00000223141]
AlphaFold P60755
Predicted Effect possibly damaging
Transcript: ENSMUST00000037181
AA Change: D152G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: D152G

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 null
Transcript: ENSMUST00000101379
AA Change: *134W
SMART Domains Protein: ENSMUSP00000098930
Gene: ENSMUSG00000034912
AA Change: *134W

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: D142G

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: D83G

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223141
AA Change: D83G

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.2%
  • 10x: 87.0%
  • 20x: 78.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,064,424 (GRCm38) S28P possibly damaging Het
Akr1c14 T C 13: 4,079,100 (GRCm38) V165A probably damaging Het
Aox2 A T 1: 58,282,680 (GRCm38) T44S probably damaging Het
Arhgap29 T A 3: 122,003,212 (GRCm38) N482K probably benign Het
Arhgef38 T A 3: 133,160,830 (GRCm38) D182V Het
Atad5 C T 11: 80,111,567 (GRCm38) H1062Y probably benign Het
Atp6v0b A G 4: 117,885,256 (GRCm38) S147P possibly damaging Het
Cblb T A 16: 52,139,542 (GRCm38) Y299* probably null Het
Ccdc28b T C 4: 129,621,025 (GRCm38) N97S probably benign Het
Cdh23 A G 10: 60,465,458 (GRCm38) V479A probably benign Het
Chuk A G 19: 44,098,583 (GRCm38) probably null Het
Cmtr2 G A 8: 110,222,336 (GRCm38) G426D probably damaging Het
Cog4 G A 8: 110,866,672 (GRCm38) D472N probably damaging Het
Creb3 T A 4: 43,565,472 (GRCm38) L193* probably null Het
Cxcr6 A T 9: 123,810,461 (GRCm38) I183F probably benign Het
Dbf4 A G 5: 8,403,664 (GRCm38) F253L probably benign Het
Dcaf8 T C 1: 172,172,797 (GRCm38) V174A probably damaging Het
Ddhd2 T C 8: 25,735,752 (GRCm38) Y526C probably damaging Het
Dnal4 A G 15: 79,763,565 (GRCm38) V33A probably benign Het
Egfl7 C T 2: 26,591,040 (GRCm38) P188L probably benign Het
Ephb3 A G 16: 21,220,857 (GRCm38) E707G probably damaging Het
Epn3 C T 11: 94,496,523 (GRCm38) R7H probably damaging Het
Fam198b C A 3: 79,886,939 (GRCm38) S238Y possibly damaging Het
Fbp1 T A 13: 62,867,380 (GRCm38) I262F probably damaging Het
Fgfbp3 G A 19: 36,918,688 (GRCm38) R177* probably null Het
Gbp5 T C 3: 142,500,710 (GRCm38) S52P probably damaging Het
Glb1l2 A T 9: 26,773,981 (GRCm38) S282T probably benign Het
Glg1 A T 8: 111,258,799 (GRCm38) V133E possibly damaging Het
Gm4787 T G 12: 81,377,175 (GRCm38) L736F probably benign Het
Gm5565 A T 5: 146,158,299 (GRCm38) S212R probably benign Het
Grin2c T C 11: 115,249,633 (GRCm38) T1220A probably benign Het
Grp T G 18: 65,886,226 (GRCm38) S133A probably benign Het
Gstp2 C A 19: 4,040,713 (GRCm38) D147Y possibly damaging Het
Igkv14-130 T C 6: 67,791,408 (GRCm38) F84L probably damaging Het
Inppl1 T C 7: 101,826,013 (GRCm38) R944G probably benign Het
Lama2 A T 10: 27,369,136 (GRCm38) N216K probably damaging Het
Lrp2 T A 2: 69,537,538 (GRCm38) D210V probably damaging Het
Lrrc2 A T 9: 110,962,540 (GRCm38) Q120L possibly damaging Het
Lrriq1 A G 10: 103,071,194 (GRCm38) I1555T probably benign Het
Map2 G A 1: 66,412,518 (GRCm38) G189D probably benign Het
Mdc1 A G 17: 35,844,469 (GRCm38) E12G possibly damaging Het
Med23 A G 10: 24,874,571 (GRCm38) M99V probably benign Het
Mutyh G A 4: 116,817,070 (GRCm38) V273M probably damaging Het
Neurod2 T A 11: 98,327,882 (GRCm38) Y152F probably damaging Het
Olfr1002 A C 2: 85,647,724 (GRCm38) L199R probably damaging Het
Olfr1177-ps C T 2: 88,344,013 (GRCm38) A247T probably benign Het
Olfr898 G T 9: 38,349,198 (GRCm38) L32F probably benign Het
Pcdh20 G C 14: 88,467,026 (GRCm38) P946R probably damaging Het
Pde6b T C 5: 108,423,585 (GRCm38) probably null Het
Pdzrn4 A T 15: 92,769,881 (GRCm38) D638V possibly damaging Het
Polr1b A G 2: 129,109,292 (GRCm38) D275G possibly damaging Het
Rnf157 T A 11: 116,360,317 (GRCm38) D127V probably damaging Het
Rspo4 T A 2: 151,867,883 (GRCm38) C69* probably null Het
Scara3 T C 14: 65,936,402 (GRCm38) T63A probably benign Het
Scn2a G A 2: 65,683,838 (GRCm38) E289K probably benign Het
Sh3gl2 A G 4: 85,377,549 (GRCm38) T163A probably benign Het
Slc2a10 T A 2: 165,516,293 (GRCm38) F446Y probably damaging Het
Snapc1 C T 12: 73,982,495 (GRCm38) R351C probably damaging Het
Snx6 A G 12: 54,768,030 (GRCm38) Y169H possibly damaging Het
Stab2 A T 10: 86,861,435 (GRCm38) C1996* probably null Het
Steap4 A G 5: 7,980,337 (GRCm38) T398A probably benign Het
Tep1 A T 14: 50,866,053 (GRCm38) L260Q probably benign Het
Tspan12 A T 6: 21,835,464 (GRCm38) V70D possibly damaging Het
Ttn G A 2: 76,739,018 (GRCm38) A27177V probably damaging Het
Ube3a T C 7: 59,276,122 (GRCm38) V237A possibly damaging Het
Vil1 G A 1: 74,421,383 (GRCm38) R233H probably damaging Het
Xrcc5 A G 1: 72,393,929 (GRCm38) T716A probably benign Het
Zbp1 A G 2: 173,216,990 (GRCm38) I18T probably damaging Het
Zfp292 A G 4: 34,807,524 (GRCm38) V1845A probably benign Het
Zfp407 A T 18: 84,561,268 (GRCm38) N573K possibly damaging Het
Zfp64 T C 2: 168,925,815 (GRCm38) T626A 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
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
R0110:Mdga2 UTSW 12 66,470,926 (GRCm38) missense possibly damaging 0.66
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'- AGTAGGCACAATAGTCAGCC -3'
(R):5'- GTGTACTCTAAAGCGAAGACATTG -3'

Sequencing Primer
(F):5'- GGCACAATAGTCAGCCAAAGTTTAC -3'
(R):5'- CTCTAAAGCGAAGACATTGGTGCTTG -3'
Posted On 2019-06-07