Incidental Mutation 'R5879:Synpo2'
ID 455701
Institutional Source Beutler Lab
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 # R5879 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 122870168-123029798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122907946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 457 (W457R)
Ref Sequence ENSEMBL: ENSMUSP00000142508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051443] [ENSMUST00000106426] [ENSMUST00000106427] [ENSMUST00000184590] [ENSMUST00000198584]
AlphaFold Q91YE8
Predicted Effect probably damaging
Transcript: ENSMUST00000051443
AA Change: W127R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
AA Change: W127R

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 damaging
Transcript: ENSMUST00000106426
AA Change: W457R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: W457R

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 damaging
Transcript: ENSMUST00000106427
AA Change: W457R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: W457R

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 damaging
Transcript: ENSMUST00000198584
AA Change: W457R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: W457R

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C T 7: 44,796,930 (GRCm39) W66* probably null Het
Arhgap39 T C 15: 76,636,007 (GRCm39) D76G probably damaging Het
Arhgef2 G A 3: 88,550,924 (GRCm39) probably null Het
C1qtnf2 T C 11: 43,376,835 (GRCm39) M99T probably damaging Het
Cyren A G 6: 34,851,593 (GRCm39) L87P probably damaging Het
Eml3 G A 19: 8,912,379 (GRCm39) C392Y possibly damaging Het
Ephb4 C A 5: 137,358,678 (GRCm39) P287Q probably benign Het
Fat4 G T 3: 38,941,485 (GRCm39) R126L probably benign Het
Flt3 T C 5: 147,271,719 (GRCm39) M858V probably damaging Het
Gprin3 A C 6: 59,331,698 (GRCm39) I203R probably benign Het
Insr G T 8: 3,248,173 (GRCm39) Y457* probably null Het
Ipo13 G A 4: 117,760,400 (GRCm39) T649I possibly damaging Het
Krba1 A G 6: 48,392,678 (GRCm39) D818G possibly damaging Het
Llgl1 G A 11: 60,603,806 (GRCm39) G1016R probably benign Het
Loxl4 A G 19: 42,596,066 (GRCm39) V142A probably benign Het
Mthfd1 A G 12: 76,340,992 (GRCm39) I464V probably benign Het
Mycs C A X: 5,380,131 (GRCm39) K316N probably damaging Het
Ncor2 A G 5: 125,103,839 (GRCm39) probably benign Het
Nlrc3 A G 16: 3,781,909 (GRCm39) F516S probably damaging Het
Oacyl A G 18: 65,882,743 (GRCm39) S540G probably damaging Het
Olfml2a A T 2: 38,850,242 (GRCm39) T653S probably damaging Het
Or8s16 C T 15: 98,211,369 (GRCm39) V21I probably benign Het
Pcnx2 A T 8: 126,500,685 (GRCm39) N1468K probably damaging Het
Plbd1 A G 6: 136,611,503 (GRCm39) I258T probably damaging Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Pramel21 A T 4: 143,344,161 (GRCm39) Y487F possibly damaging Het
Prop1 C T 11: 50,844,153 (GRCm39) V27M probably damaging Het
Rfx4 T G 10: 84,650,625 (GRCm39) probably null Het
Rgs11 C T 17: 26,422,437 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,595,260 (GRCm39) F541I probably damaging Het
Srgap3 A T 6: 112,699,807 (GRCm39) V1057E possibly damaging Het
Tet2 T A 3: 133,193,721 (GRCm39) N238Y possibly damaging Het
Tiam2 T A 17: 3,487,540 (GRCm39) M687K probably damaging Het
Ticrr A G 7: 79,346,438 (GRCm39) E1866G probably benign Het
Tspan8 T C 10: 115,669,156 (GRCm39) S64P possibly damaging Het
Ugt2b37 C T 5: 87,402,265 (GRCm39) G122D probably benign Het
Uqcrc2 A G 7: 120,237,111 (GRCm39) E53G probably damaging Het
Vcan T C 13: 89,852,071 (GRCm39) D963G probably damaging Het
Vmn2r24 T A 6: 123,764,226 (GRCm39) Y368N possibly damaging Het
Wdr5 A G 2: 27,418,323 (GRCm39) T208A probably benign Het
Zbtb18 A G 1: 177,275,936 (GRCm39) Y423C probably damaging Het
Zc3h6 A G 2: 128,839,696 (GRCm39) probably null 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
IGL02323:Synpo2 APN 3 122,911,183 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ACCGATTCTTCTTTTCGCTGATAAG -3'
(R):5'- TTACGGTACTGGCGAGCTTG -3'

Sequencing Primer
(F):5'- GAAGTCATGGTTCTCAGACCATC -3'
(R):5'- GCTTGAGCGAGAGGAGGAG -3'
Posted On 2017-02-10