Incidental Mutation 'IGL02323:Synpo2'
ID 288316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Synpo2
Ensembl Gene ENSMUSG00000050315
Gene Name synaptopodin 2
Synonyms 1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02323
Quality Score
Status
Chromosome 3
Chromosomal Location 122870168-123029798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122911183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 154 (E154G)
Ref Sequence ENSEMBL: ENSMUSP00000102034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051443] [ENSMUST00000106426] [ENSMUST00000106427] [ENSMUST00000184590] [ENSMUST00000198584]
AlphaFold Q91YE8
Predicted Effect probably benign
Transcript: ENSMUST00000051443
SMART Domains Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315

DomainStartEndE-ValueType
PDZ 15 88 6.51e-14 SMART
low complexity region 339 357 N/A INTRINSIC
internal_repeat_2 377 398 1.92e-5 PROSPERO
low complexity region 406 424 N/A INTRINSIC
low complexity region 434 448 N/A INTRINSIC
internal_repeat_1 477 503 1.04e-7 PROSPERO
internal_repeat_2 478 499 1.92e-5 PROSPERO
low complexity region 534 549 N/A INTRINSIC
low complexity region 609 621 N/A INTRINSIC
low complexity region 628 651 N/A INTRINSIC
low complexity region 740 777 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
low complexity region 846 854 N/A INTRINSIC
internal_repeat_1 858 884 1.04e-7 PROSPERO
low complexity region 941 950 N/A INTRINSIC
low complexity region 1034 1051 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106426
AA Change: E154G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: E154G

DomainStartEndE-ValueType
PDZ 15 88 6.51e-14 SMART
low complexity region 339 357 N/A INTRINSIC
internal_repeat_2 377 398 4.61e-5 PROSPERO
low complexity region 406 424 N/A INTRINSIC
low complexity region 434 448 N/A INTRINSIC
internal_repeat_1 477 503 2.92e-7 PROSPERO
internal_repeat_2 478 499 4.61e-5 PROSPERO
low complexity region 534 549 N/A INTRINSIC
low complexity region 609 621 N/A INTRINSIC
low complexity region 628 651 N/A INTRINSIC
low complexity region 740 777 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
low complexity region 846 854 N/A INTRINSIC
internal_repeat_1 858 884 2.92e-7 PROSPERO
low complexity region 941 950 N/A INTRINSIC
low complexity region 1034 1051 N/A INTRINSIC
low complexity region 1196 1211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106427
AA Change: E154G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: E154G

DomainStartEndE-ValueType
PDZ 15 88 6.51e-14 SMART
low complexity region 339 357 N/A INTRINSIC
internal_repeat_2 377 398 6.19e-5 PROSPERO
low complexity region 406 424 N/A INTRINSIC
low complexity region 434 448 N/A INTRINSIC
internal_repeat_1 477 503 4.33e-7 PROSPERO
internal_repeat_2 478 499 6.19e-5 PROSPERO
low complexity region 534 549 N/A INTRINSIC
low complexity region 609 621 N/A INTRINSIC
low complexity region 628 651 N/A INTRINSIC
low complexity region 740 777 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
low complexity region 846 854 N/A INTRINSIC
internal_repeat_1 858 884 4.33e-7 PROSPERO
low complexity region 941 950 N/A INTRINSIC
low complexity region 1137 1152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139160
SMART Domains Protein: ENSMUSP00000123396
Gene: ENSMUSG00000050315

DomainStartEndE-ValueType
low complexity region 155 170 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184590
SMART Domains Protein: ENSMUSP00000142426
Gene: ENSMUSG00000050315

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
low complexity region 141 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198584
AA Change: E154G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: E154G

DomainStartEndE-ValueType
PDZ 15 88 6.51e-14 SMART
low complexity region 339 357 N/A INTRINSIC
internal_repeat_2 377 398 1.92e-5 PROSPERO
low complexity region 406 424 N/A INTRINSIC
low complexity region 434 448 N/A INTRINSIC
internal_repeat_1 477 503 1.04e-7 PROSPERO
internal_repeat_2 478 499 1.92e-5 PROSPERO
low complexity region 534 549 N/A INTRINSIC
low complexity region 609 621 N/A INTRINSIC
low complexity region 628 651 N/A INTRINSIC
low complexity region 740 777 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
low complexity region 846 854 N/A INTRINSIC
internal_repeat_1 858 884 1.04e-7 PROSPERO
low complexity region 941 950 N/A INTRINSIC
low complexity region 1034 1051 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,326 (GRCm39) E344G probably damaging Het
Actrt2 T C 4: 154,751,255 (GRCm39) T294A probably benign Het
Afg1l C A 10: 42,330,506 (GRCm39) E54* probably null Het
Ahi1 T C 10: 20,847,933 (GRCm39) I447T probably damaging Het
Akap6 T C 12: 53,187,212 (GRCm39) I1542T probably benign Het
Ankrd34c A C 9: 89,612,033 (GRCm39) S103A possibly damaging Het
Apc C T 18: 34,448,863 (GRCm39) Q1886* probably null Het
Bcas3 A G 11: 85,386,671 (GRCm39) T148A probably damaging Het
Bud13 A G 9: 46,194,350 (GRCm39) T8A probably benign Het
Casr A T 16: 36,330,072 (GRCm39) Y421N probably damaging Het
Ccdc121rt2 A G 5: 112,597,600 (GRCm39) Y49C probably benign Het
Clasp2 T C 9: 113,697,794 (GRCm39) probably benign Het
Clca4b T C 3: 144,619,082 (GRCm39) T686A probably benign Het
Cntln T A 4: 84,968,026 (GRCm39) H748Q probably benign Het
Dmtf1 A T 5: 9,170,056 (GRCm39) D683E possibly damaging Het
Dnmt3l A G 10: 77,899,152 (GRCm39) K117R probably damaging Het
Eif2a T C 3: 58,456,024 (GRCm39) M341T possibly damaging Het
Epg5 T A 18: 78,056,047 (GRCm39) Y1740* probably null Het
Fam149b C T 14: 20,413,369 (GRCm39) T157I possibly damaging Het
Fam89b A G 19: 5,778,899 (GRCm39) probably null Het
Fbxo3 T A 2: 103,878,296 (GRCm39) N232K probably benign Het
Gnl3 A C 14: 30,739,359 (GRCm39) H16Q probably damaging Het
Gpld1 T G 13: 25,166,757 (GRCm39) V669G probably damaging Het
Grik3 A G 4: 125,579,783 (GRCm39) probably benign Het
Gzmg A C 14: 56,394,729 (GRCm39) Y180D probably benign Het
H2-M9 A T 17: 36,951,633 (GRCm39) Y281N probably damaging Het
Katnip T A 7: 125,442,001 (GRCm39) S637T probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mrs2 T A 13: 25,188,940 (GRCm39) I125F probably damaging Het
Nfam1 T A 15: 82,907,152 (GRCm39) N15I probably benign Het
Nol8 T A 13: 49,808,721 (GRCm39) probably benign Het
Obscn A G 11: 58,899,348 (GRCm39) V6483A possibly damaging Het
Or2a56 A T 6: 42,932,917 (GRCm39) I162F probably benign Het
Osbpl3 A G 6: 50,323,306 (GRCm39) probably null Het
Plaat3 G A 19: 7,552,357 (GRCm39) W24* probably null Het
Ppfibp2 A T 7: 107,337,836 (GRCm39) Q652H probably damaging Het
Rbm47 A G 5: 66,183,772 (GRCm39) V277A probably damaging Het
Robo3 G A 9: 37,333,497 (GRCm39) A716V probably benign Het
Scart1 G T 7: 139,808,572 (GRCm39) A828S probably benign Het
Semp2l1 A T 1: 32,584,785 (GRCm39) L375* probably null Het
Slc29a4 A G 5: 142,703,407 (GRCm39) E227G probably damaging Het
Slf1 T C 13: 77,199,413 (GRCm39) D656G possibly damaging Het
Sox1 A G 8: 12,446,692 (GRCm39) H111R possibly damaging Het
Spmip9 A G 6: 70,890,679 (GRCm39) probably benign Het
Svep1 G A 4: 58,070,236 (GRCm39) Q2517* probably null Het
Syndig1 G T 2: 149,741,707 (GRCm39) V98L probably benign Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tmem200a T C 10: 25,869,328 (GRCm39) N314D probably benign Het
Tnfaip8l1 A T 17: 56,479,009 (GRCm39) T100S probably damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trim12c C T 7: 103,997,473 (GRCm39) A28T probably benign Het
Trpc7 C A 13: 56,931,564 (GRCm39) V595L possibly damaging Het
Ttc39c A G 18: 12,869,800 (GRCm39) R575G probably null Het
Ttn T G 2: 76,681,919 (GRCm39) probably benign Het
Ttn C T 2: 76,553,609 (GRCm39) V31003M probably damaging Het
Ugt2b37 A T 5: 87,398,423 (GRCm39) probably benign Het
Uqcrb A T 13: 67,050,874 (GRCm39) probably benign Het
Usp33 T A 3: 152,076,024 (GRCm39) W415R probably benign Het
Vmn2r110 A T 17: 20,816,399 (GRCm39) D41E probably damaging Het
Vmn2r98 A T 17: 19,286,113 (GRCm39) I204F probably damaging Het
Other mutations in Synpo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Synpo2 APN 3 122,906,859 (GRCm39) missense probably damaging 1.00
IGL00742:Synpo2 APN 3 122,907,525 (GRCm39) missense probably damaging 1.00
IGL01890:Synpo2 APN 3 122,906,146 (GRCm39) missense probably damaging 1.00
IGL02268:Synpo2 APN 3 122,910,632 (GRCm39) missense probably damaging 1.00
IGL02745:Synpo2 APN 3 122,907,261 (GRCm39) missense probably damaging 1.00
IGL03001:Synpo2 APN 3 122,873,604 (GRCm39) missense probably benign 0.00
IGL03177:Synpo2 APN 3 122,914,864 (GRCm39) missense probably damaging 1.00
IGL03336:Synpo2 APN 3 122,907,828 (GRCm39) missense possibly damaging 0.60
R0086:Synpo2 UTSW 3 122,910,753 (GRCm39) nonsense probably null
R0126:Synpo2 UTSW 3 122,873,511 (GRCm39) missense possibly damaging 0.71
R0227:Synpo2 UTSW 3 122,907,442 (GRCm39) missense probably benign 0.02
R0284:Synpo2 UTSW 3 122,873,383 (GRCm39) nonsense probably null
R0388:Synpo2 UTSW 3 122,873,546 (GRCm39) missense probably benign
R0457:Synpo2 UTSW 3 122,906,421 (GRCm39) missense probably damaging 1.00
R0483:Synpo2 UTSW 3 122,907,981 (GRCm39) missense probably damaging 1.00
R0615:Synpo2 UTSW 3 122,910,936 (GRCm39) missense probably damaging 1.00
R0646:Synpo2 UTSW 3 122,908,098 (GRCm39) missense probably damaging 1.00
R0666:Synpo2 UTSW 3 122,907,708 (GRCm39) missense probably damaging 0.98
R0743:Synpo2 UTSW 3 122,906,355 (GRCm39) missense probably benign 0.02
R0791:Synpo2 UTSW 3 122,906,835 (GRCm39) missense probably benign
R1531:Synpo2 UTSW 3 122,911,315 (GRCm39) missense probably benign 0.03
R1587:Synpo2 UTSW 3 122,908,047 (GRCm39) missense probably damaging 0.98
R1717:Synpo2 UTSW 3 122,906,203 (GRCm39) missense probably damaging 1.00
R1807:Synpo2 UTSW 3 122,873,906 (GRCm39) missense possibly damaging 0.71
R2114:Synpo2 UTSW 3 122,873,537 (GRCm39) missense probably benign 0.01
R2987:Synpo2 UTSW 3 122,910,622 (GRCm39) missense probably damaging 1.00
R3019:Synpo2 UTSW 3 122,907,228 (GRCm39) missense probably damaging 1.00
R3939:Synpo2 UTSW 3 122,908,239 (GRCm39) missense probably damaging 1.00
R4050:Synpo2 UTSW 3 122,907,927 (GRCm39) missense possibly damaging 0.81
R4119:Synpo2 UTSW 3 122,910,799 (GRCm39) missense probably damaging 1.00
R4669:Synpo2 UTSW 3 122,906,712 (GRCm39) missense probably damaging 1.00
R4724:Synpo2 UTSW 3 122,907,940 (GRCm39) missense probably damaging 1.00
R4825:Synpo2 UTSW 3 122,908,068 (GRCm39) missense probably damaging 0.98
R5152:Synpo2 UTSW 3 123,029,550 (GRCm39) critical splice donor site probably null
R5292:Synpo2 UTSW 3 122,907,709 (GRCm39) missense possibly damaging 0.51
R5396:Synpo2 UTSW 3 122,911,331 (GRCm39) nonsense probably null
R5701:Synpo2 UTSW 3 122,873,879 (GRCm39) missense probably damaging 1.00
R5712:Synpo2 UTSW 3 122,914,859 (GRCm39) missense probably damaging 1.00
R5730:Synpo2 UTSW 3 122,907,768 (GRCm39) missense probably benign 0.04
R5879:Synpo2 UTSW 3 122,907,946 (GRCm39) missense probably damaging 1.00
R5979:Synpo2 UTSW 3 122,911,060 (GRCm39) missense probably damaging 1.00
R6290:Synpo2 UTSW 3 122,910,701 (GRCm39) missense probably damaging 0.98
R6384:Synpo2 UTSW 3 122,906,698 (GRCm39) nonsense probably null
R6498:Synpo2 UTSW 3 122,873,881 (GRCm39) splice site probably null
R7123:Synpo2 UTSW 3 122,906,835 (GRCm39) missense probably benign
R7153:Synpo2 UTSW 3 122,906,053 (GRCm39) makesense probably null
R7233:Synpo2 UTSW 3 122,911,333 (GRCm39) missense probably benign 0.01
R7301:Synpo2 UTSW 3 122,907,702 (GRCm39) missense probably benign 0.10
R7318:Synpo2 UTSW 3 122,910,968 (GRCm39) missense probably benign
R7366:Synpo2 UTSW 3 122,907,690 (GRCm39) missense probably damaging 0.96
R7630:Synpo2 UTSW 3 122,873,681 (GRCm39) missense probably damaging 1.00
R7962:Synpo2 UTSW 3 123,029,635 (GRCm39) missense probably benign 0.09
R8068:Synpo2 UTSW 3 122,911,041 (GRCm39) missense possibly damaging 0.59
R8335:Synpo2 UTSW 3 122,908,183 (GRCm39) missense probably damaging 1.00
R9066:Synpo2 UTSW 3 122,911,133 (GRCm39) missense possibly damaging 0.66
R9269:Synpo2 UTSW 3 122,910,973 (GRCm39) missense probably benign 0.00
R9318:Synpo2 UTSW 3 122,873,705 (GRCm39) missense probably damaging 1.00
R9623:Synpo2 UTSW 3 122,908,047 (GRCm39) missense possibly damaging 0.68
R9685:Synpo2 UTSW 3 122,911,366 (GRCm39) missense probably damaging 1.00
Z1177:Synpo2 UTSW 3 122,906,659 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16