Incidental Mutation 'R7318:Synpo2'
ID 565632
Institutional Source Beutler Lab
Gene Symbol Synpo2
Ensembl Gene ENSMUSG00000050315
Gene Name synaptopodin 2
Synonyms 1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo
MMRRC Submission 045414-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7318 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 122870168-123029798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122910968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 226 (S226G)
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: S226G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: S226G

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: S226G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: S226G

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: S226G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: S226G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,111 (GRCm39) L260S probably benign Het
9130230L23Rik A T 5: 66,145,771 (GRCm39) S113R unknown Het
Abcc5 G A 16: 20,211,293 (GRCm39) P557S probably benign Het
Acad11 A G 9: 103,958,466 (GRCm39) T245A probably damaging Het
Acap2 A G 16: 30,946,155 (GRCm39) F263L probably damaging Het
Ankle2 A T 5: 110,385,632 (GRCm39) N327I probably benign Het
Appl1 T C 14: 26,685,617 (GRCm39) E67G probably benign Het
Arfgef3 A T 10: 18,506,211 (GRCm39) C864S possibly damaging Het
Arhgap20 A G 9: 51,751,802 (GRCm39) I418V probably benign Het
Arhgef2 A T 3: 88,539,610 (GRCm39) N102Y probably damaging Het
Car9 G T 4: 43,513,089 (GRCm39) E431D probably damaging Het
Cbfa2t2 T C 2: 154,342,374 (GRCm39) I30T probably benign Het
Cd40 A T 2: 164,904,255 (GRCm39) D34V possibly damaging Het
Chrnb2 T A 3: 89,670,674 (GRCm39) probably null Het
Chsy1 T G 7: 65,759,977 (GRCm39) probably null Het
Cpne6 A G 14: 55,751,751 (GRCm39) T245A possibly damaging Het
Cpsf1 T A 15: 76,481,475 (GRCm39) K1159* probably null Het
Crisp1 T A 17: 40,618,668 (GRCm39) E64D possibly damaging Het
D3Ertd751e A G 3: 41,756,986 (GRCm39) probably null Het
Dennd11 A G 6: 40,386,098 (GRCm39) V333A possibly damaging Het
Dnah7b T A 1: 46,234,532 (GRCm39) L1488Q probably damaging Het
Dnm2 G A 9: 21,416,863 (GRCm39) G799R possibly damaging Het
Elp2 G A 18: 24,739,956 (GRCm39) V61I probably damaging Het
Epb41l3 T C 17: 69,573,135 (GRCm39) L388P Het
Fry A T 5: 150,360,458 (GRCm39) S2035C probably damaging Het
Gas8 T C 8: 124,257,707 (GRCm39) F385L probably benign Het
Ghsr T C 3: 27,426,616 (GRCm39) V224A possibly damaging Het
Gstp2 T A 19: 4,091,065 (GRCm39) R85W probably benign Het
Ighv1-20 T A 12: 114,687,810 (GRCm39) I6F possibly damaging Het
Inpp4b T A 8: 82,798,374 (GRCm39) M854K probably damaging Het
Kif15 A G 9: 122,817,014 (GRCm39) E538G probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lmo3 T A 6: 138,398,363 (GRCm39) probably benign Het
Lyg1 G A 1: 37,988,936 (GRCm39) P95S probably benign Het
Lyst A G 13: 13,932,028 (GRCm39) H3552R probably benign Het
Mtif2 C T 11: 29,490,115 (GRCm39) S385L probably benign Het
Muc4 A T 16: 32,575,710 (GRCm39) I1737F unknown Het
Mug1 T C 6: 121,847,611 (GRCm39) probably null Het
Mx1 G T 16: 97,253,286 (GRCm39) Q350K probably benign Het
Mylk3 G T 8: 86,085,726 (GRCm39) D269E probably benign Het
Myo3a A T 2: 22,448,332 (GRCm39) K974* probably null Het
Nectin4 G T 1: 171,208,031 (GRCm39) R141L probably benign Het
Nlgn2 T C 11: 69,716,795 (GRCm39) H582R probably damaging Het
Or51ab3 T A 7: 103,201,298 (GRCm39) M102K probably damaging Het
Or51e1 T A 7: 102,359,226 (GRCm39) Y253* probably null Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psmd11 C A 11: 80,347,128 (GRCm39) L171I probably benign Het
Rad54l A G 4: 115,967,906 (GRCm39) V152A possibly damaging Het
Ranbp2 T A 10: 58,318,909 (GRCm39) Y2473* probably null Het
Sertad1 T C 7: 27,188,910 (GRCm39) I77T possibly damaging Het
Sesn3 A T 9: 14,219,873 (GRCm39) E87D probably damaging Het
Slc30a5 A T 13: 100,950,477 (GRCm39) S260R probably benign Het
Slc6a12 G A 6: 121,328,972 (GRCm39) G111S probably damaging Het
Slc6a12 T C 6: 121,328,978 (GRCm39) Y113H probably benign Het
Spag17 T G 3: 99,847,299 (GRCm39) M76R probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stard13 G A 5: 150,986,038 (GRCm39) Q491* probably null Het
Tada2b G A 5: 36,641,331 (GRCm39) T24I probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Tnnt1 T A 7: 4,513,547 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,340 (GRCm39) I196V probably benign Het
Utp20 T A 10: 88,649,811 (GRCm39) K466N possibly damaging Het
Wdr46 T C 17: 34,160,859 (GRCm39) probably null Het
Zfp287 T A 11: 62,605,104 (GRCm39) Q601L probably damaging Het
Zfp410 T C 12: 84,372,464 (GRCm39) S97P probably benign 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
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
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'- GAGAAGGAGGTGCTTCTGAC -3'
(R):5'- CCAGGAAGGACACTTGGTAG -3'

Sequencing Primer
(F):5'- TCAGCCTTCAGCCTGTCAGAG -3'
(R):5'- ACACTTGGTAGAAGAGGTCATC -3'
Posted On 2019-06-26