Incidental Mutation 'R5022:Mdga2'
ID 389278
Institutional Source Beutler Lab
Gene Symbol Mdga2
Ensembl Gene ENSMUSG00000034912
Gene Name MAM domain containing glycosylphosphatidylinositol anchor 2
Synonyms Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2
MMRRC Submission 042613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5022 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 66466060-67222549 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66470760 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 100 (C100Y)
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: C100Y

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109575
Gene: ENSMUSG00000034912
AA Change: C100Y

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 99% (110/111)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 TCGACTGC T 4: 53,041,570 (GRCm38) probably null Het
Abca15 T C 7: 120,346,096 (GRCm38) I465T probably damaging Het
Abca3 C T 17: 24,374,300 (GRCm38) R224C probably damaging Het
Abcb4 T A 5: 8,909,054 (GRCm38) probably null Het
Acan T C 7: 79,092,808 (GRCm38) probably null Het
Aebp2 G A 6: 140,637,730 (GRCm38) R109Q possibly damaging Het
Agfg2 A T 5: 137,660,160 (GRCm38) probably null Het
Ankib1 T A 5: 3,734,011 (GRCm38) I322F possibly damaging Het
AW551984 A T 9: 39,597,965 (GRCm38) N293K probably benign Het
BC028528 T A 3: 95,888,823 (GRCm38) probably benign Het
Bicc1 A G 10: 70,947,883 (GRCm38) S393P possibly damaging Het
Birc6 A G 17: 74,692,332 (GRCm38) Y4656C probably damaging Het
Bmp3 A G 5: 98,872,824 (GRCm38) R369G probably damaging Het
C1d T A 11: 17,266,674 (GRCm38) N135K probably benign Het
Ccdc148 G A 2: 58,827,632 (GRCm38) A453V probably damaging Het
Cd163 C T 6: 124,325,288 (GRCm38) T937I probably damaging Het
Celf2 C T 2: 6,607,847 (GRCm38) probably benign Het
Chga T C 12: 102,562,837 (GRCm38) W358R probably damaging Het
Clec4b2 A T 6: 123,200,956 (GRCm38) S77C probably null Het
Crim1 T C 17: 78,280,129 (GRCm38) V221A possibly damaging Het
D630003M21Rik A T 2: 158,217,633 (GRCm38) S116T probably damaging Het
Dlg5 T C 14: 24,136,622 (GRCm38) E1847G probably damaging Het
Dmxl1 T A 18: 49,895,127 (GRCm38) I2206K probably damaging Het
Dusp7 T A 9: 106,373,741 (GRCm38) L355Q probably damaging Het
Exd2 T A 12: 80,496,790 (GRCm38) N582K probably damaging Het
Fbln1 G A 15: 85,237,626 (GRCm38) S316N probably damaging Het
Fchsd1 A G 18: 37,964,810 (GRCm38) I340T possibly damaging Het
Fn1 T C 1: 71,624,179 (GRCm38) Y1050C probably damaging Het
Fsip2 A G 2: 82,979,429 (GRCm38) I2031V probably benign Het
Gm10803 A C 2: 93,564,172 (GRCm38) L96F probably damaging Het
Gm12169 T A 11: 46,528,532 (GRCm38) D58E probably damaging Het
Gm14569 T C X: 36,430,817 (GRCm38) D1413G probably benign Het
Gm15455 T C 1: 33,837,351 (GRCm38) noncoding transcript Het
Gm1818 G C 12: 48,555,535 (GRCm38) noncoding transcript Het
Gm4907 G A X: 23,907,241 (GRCm38) G327E probably damaging Het
Gm5039 T C 12: 88,321,301 (GRCm38) I61V probably benign Het
Gm5420 A T 10: 21,691,727 (GRCm38) noncoding transcript Het
Gm6803 A T 12: 88,018,711 (GRCm38) S21T unknown Het
Gm7104 A T 12: 88,285,759 (GRCm38) noncoding transcript Het
Gp2 A G 7: 119,449,114 (GRCm38) I427T probably damaging Het
Gpc4 G A X: 52,074,563 (GRCm38) R148C probably damaging Het
Gpr142 A C 11: 114,804,388 (GRCm38) S60R probably benign Het
Helz2 T C 2: 181,240,569 (GRCm38) R144G probably benign Het
Herc1 A T 9: 66,470,326 (GRCm38) K3458M possibly damaging Het
Hnf4g G T 3: 3,644,587 (GRCm38) A144S probably damaging Het
Irs2 A C 8: 10,987,012 (GRCm38) *1322G probably null Het
Keg1 A G 19: 12,719,157 (GRCm38) N288S probably damaging Het
Kif19a G A 11: 114,767,227 (GRCm38) M37I probably benign Het
Klhl1 G A 14: 96,136,706 (GRCm38) P635S probably benign Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Lsm11 T C 11: 45,944,839 (GRCm38) D25G probably damaging Het
Manea A T 4: 26,336,630 (GRCm38) Y215* probably null Het
Mthfd1 T G 12: 76,294,374 (GRCm38) V480G probably damaging Het
Mthfd1 T A 12: 76,301,328 (GRCm38) M582K probably damaging Het
Myh7b G C 2: 155,632,373 (GRCm38) R1669S possibly damaging Het
Nanos1 T C 19: 60,756,980 (GRCm38) Y239H probably damaging Het
Nat8 G A 6: 85,830,857 (GRCm38) T98I possibly damaging Het
Ndufs3 C A 2: 90,898,660 (GRCm38) A161S probably benign Het
Nexmif A T X: 104,087,350 (GRCm38) N320K probably damaging Het
Olfr1216 A G 2: 89,014,043 (GRCm38) V7A probably damaging Het
Olfr1228 C T 2: 89,249,417 (GRCm38) M92I probably benign Het
Olfr164 A T 16: 19,286,059 (GRCm38) V228D probably damaging Het
Olfr239 T C 17: 33,199,777 (GRCm38) F239S probably damaging Het
Olfr457 A T 6: 42,471,287 (GRCm38) V297E possibly damaging Het
Olfr589 G A 7: 103,155,735 (GRCm38) P4L probably benign Het
Olfr727 T C 14: 50,127,012 (GRCm38) V145A possibly damaging Het
Olfr822 T C 10: 130,074,593 (GRCm38) L61P probably damaging Het
Pcdhb14 T A 18: 37,450,170 (GRCm38) N776K probably benign Het
Pip5k1c G A 10: 81,310,889 (GRCm38) probably null Het
Plk4 G A 3: 40,802,077 (GRCm38) probably null Het
Prmt8 A G 6: 127,711,163 (GRCm38) Y231H possibly damaging Het
Prpf4b T C 13: 34,883,599 (GRCm38) probably benign Het
Ptpn21 G A 12: 98,679,407 (GRCm38) R1091C probably damaging Het
Pwwp2b C T 7: 139,255,578 (GRCm38) P312S possibly damaging Het
Rad21 A T 15: 51,966,706 (GRCm38) I503K probably benign Het
Rai14 A G 15: 10,574,506 (GRCm38) S789P probably damaging Het
Rbm26 C T 14: 105,144,252 (GRCm38) D486N probably damaging Het
Rnf20 A G 4: 49,642,016 (GRCm38) probably benign Het
Ros1 A G 10: 52,124,075 (GRCm38) V1118A possibly damaging Het
Sema3d A C 5: 12,584,956 (GRCm38) Y663S probably damaging Het
Serpina6 A G 12: 103,651,712 (GRCm38) W281R probably damaging Het
Slc8a3 A G 12: 81,199,558 (GRCm38) V900A probably damaging Het
Spats2l G T 1: 57,879,556 (GRCm38) V30L probably damaging Het
Spg21 A G 9: 65,475,949 (GRCm38) D139G probably damaging Het
Sun3 T C 11: 9,038,314 (GRCm38) T3A probably damaging Het
Tcrg-V1 T A 13: 19,340,231 (GRCm38) S42T probably benign Het
Tep1 A G 14: 50,828,999 (GRCm38) Y2335H probably benign Het
Timm21 C A 18: 84,949,414 (GRCm38) V112L possibly damaging Het
Tlk1 A T 2: 70,742,065 (GRCm38) N386K probably benign Het
Trappc10 G T 10: 78,217,160 (GRCm38) F260L possibly damaging Het
Trmt112 T C 19: 6,910,753 (GRCm38) V91A probably benign Het
Ucp2 A T 7: 100,498,372 (GRCm38) N186I possibly damaging Het
Vmn1r119 A G 7: 21,012,320 (GRCm38) S46P probably benign Het
Vmn2r101 A T 17: 19,611,387 (GRCm38) probably null Het
Vmn2r105 T A 17: 20,208,414 (GRCm38) H800L probably damaging Het
Vmn2r69 T C 7: 85,411,159 (GRCm38) M406V possibly damaging Het
Vmn2r84 A G 10: 130,386,548 (GRCm38) L601P probably damaging Het
Vps16 A G 2: 130,439,452 (GRCm38) S235G probably benign Het
Wap T C 11: 6,637,339 (GRCm38) probably benign Het
Wdr11 A G 7: 129,624,711 (GRCm38) I744M probably benign Het
Xiap T C X: 42,094,465 (GRCm38) F23L probably benign Het
Xkr7 A G 2: 153,054,380 (GRCm38) T385A probably benign Het
Zfp524 A T 7: 5,018,417 (GRCm38) I315F probably benign Het
Zfp62 T A 11: 49,215,729 (GRCm38) S216T probably damaging Het
Znfx1 T C 2: 167,039,826 (GRCm38) Y217C probably damaging 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
PIT4362001:Mdga2 UTSW 12 66,797,768 (GRCm38) missense possibly damaging 0.83
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
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'- AGGCTTGTTTCATTGAAGGCAC -3'
(R):5'- GGCTGTTACCCTTCCTTGAAAATAC -3'

Sequencing Primer
(F):5'- AGGCACTTGGTTTCCATGGC -3'
(R):5'- TTCCTTGAAAATACTCCAAACTCGG -3'
Posted On 2016-06-06