Incidental Mutation 'R3757:Synpo'
ID 271504
Institutional Source Beutler Lab
Gene Symbol Synpo
Ensembl Gene ENSMUSG00000043079
Gene Name synaptopodin
Synonyms 9030217H17Rik, 9330140I15Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R3757 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 60727045-60793214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60736062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 389 (D389G)
Ref Sequence ENSEMBL: ENSMUSP00000117897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097566] [ENSMUST00000115318] [ENSMUST00000123288] [ENSMUST00000130044] [ENSMUST00000130360] [ENSMUST00000143275] [ENSMUST00000155195]
AlphaFold Q8CC35
Predicted Effect probably damaging
Transcript: ENSMUST00000097566
AA Change: D389G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095174
Gene: ENSMUSG00000043079
AA Change: D389G

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
low complexity region 328 341 N/A INTRINSIC
low complexity region 428 446 N/A INTRINSIC
low complexity region 571 600 N/A INTRINSIC
low complexity region 607 628 N/A INTRINSIC
low complexity region 714 741 N/A INTRINSIC
low complexity region 769 782 N/A INTRINSIC
low complexity region 786 811 N/A INTRINSIC
low complexity region 830 846 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115318
AA Change: D389G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110973
Gene: ENSMUSG00000043079
AA Change: D389G

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
low complexity region 328 341 N/A INTRINSIC
low complexity region 428 446 N/A INTRINSIC
low complexity region 571 600 N/A INTRINSIC
low complexity region 607 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128528
Predicted Effect probably damaging
Transcript: ENSMUST00000130044
AA Change: D389G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121756
Gene: ENSMUSG00000043079
AA Change: D389G

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
low complexity region 328 341 N/A INTRINSIC
low complexity region 428 446 N/A INTRINSIC
low complexity region 571 600 N/A INTRINSIC
low complexity region 607 628 N/A INTRINSIC
low complexity region 714 741 N/A INTRINSIC
low complexity region 769 782 N/A INTRINSIC
low complexity region 786 811 N/A INTRINSIC
low complexity region 830 846 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130360
AA Change: D628G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115355
Gene: ENSMUSG00000043079
AA Change: D628G

DomainStartEndE-ValueType
low complexity region 33 43 N/A INTRINSIC
low complexity region 208 232 N/A INTRINSIC
low complexity region 317 329 N/A INTRINSIC
low complexity region 567 580 N/A INTRINSIC
low complexity region 667 685 N/A INTRINSIC
low complexity region 810 839 N/A INTRINSIC
low complexity region 846 867 N/A INTRINSIC
low complexity region 913 940 N/A INTRINSIC
low complexity region 968 981 N/A INTRINSIC
low complexity region 985 1010 N/A INTRINSIC
low complexity region 1029 1045 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143275
AA Change: D628G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125272
Gene: ENSMUSG00000043079
AA Change: D628G

DomainStartEndE-ValueType
low complexity region 33 43 N/A INTRINSIC
low complexity region 208 232 N/A INTRINSIC
low complexity region 317 329 N/A INTRINSIC
low complexity region 567 580 N/A INTRINSIC
low complexity region 667 685 N/A INTRINSIC
low complexity region 810 839 N/A INTRINSIC
low complexity region 846 867 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155195
AA Change: D389G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117897
Gene: ENSMUSG00000043079
AA Change: D389G

DomainStartEndE-ValueType
low complexity region 78 90 N/A INTRINSIC
low complexity region 328 341 N/A INTRINSIC
low complexity region 428 446 N/A INTRINSIC
low complexity region 571 600 N/A INTRINSIC
low complexity region 607 628 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160395
Meta Mutation Damage Score 0.0781 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 92% (35/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in telencephalic neurons, reduced long term potentiation, and behavioral abnormalities including hypoactivity, reduced anxiety, and learning deficiencies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 81,986,415 (GRCm39) I9K probably benign Het
Arhgap31 T C 16: 38,457,362 (GRCm39) E82G probably damaging Het
Asap2 T A 12: 21,317,767 (GRCm39) S993T probably damaging Het
Bmpr1a A T 14: 34,156,624 (GRCm39) L134* probably null Het
Cacna1e A G 1: 154,509,442 (GRCm39) V271A probably damaging Het
Cacna2d4 A G 6: 119,218,124 (GRCm39) E153G probably damaging Het
Cage1 A C 13: 38,209,705 (GRCm39) F91V possibly damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Col9a1 T C 1: 24,271,312 (GRCm39) probably null Het
Cts6 A T 13: 61,349,972 (GRCm39) Y36* probably null Het
Dennd3 C G 15: 73,394,083 (GRCm39) A36G probably benign Het
Dmxl1 G A 18: 50,068,384 (GRCm39) G2719D probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ep300 T A 15: 81,532,790 (GRCm39) V1676E unknown Het
Ercc4 C T 16: 12,962,360 (GRCm39) T668M probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm10985 GCTCTCTCTCTCTCTCTCTCTCTCTCTCT GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 3: 53,752,645 (GRCm39) probably null Het
H1f4 T A 13: 23,806,240 (GRCm39) K81* probably null Het
Havcr1 G T 11: 46,643,407 (GRCm39) R109L probably damaging Het
Krtap4-9 A G 11: 99,676,444 (GRCm39) probably benign Het
Layn T C 9: 50,970,856 (GRCm39) E229G probably benign Het
Lpcat3 T A 6: 124,676,955 (GRCm39) probably null Het
Lrrn1 T A 6: 107,546,169 (GRCm39) F656I possibly damaging Het
Lypd1 A G 1: 125,838,121 (GRCm39) probably benign Het
Or4k41 T A 2: 111,279,602 (GRCm39) V39E possibly damaging Het
Or5v1b T A 17: 37,841,246 (GRCm39) I126N probably damaging Het
Or6c207 T C 10: 129,104,934 (GRCm39) D86G probably damaging Het
Ptprt A T 2: 161,653,950 (GRCm39) L560Q probably damaging Het
Rbm11 T C 16: 75,393,469 (GRCm39) V55A probably damaging Het
Scn11a C T 9: 119,632,569 (GRCm39) V434I probably benign Het
Serpinc1 A G 1: 160,829,935 (GRCm39) T434A probably benign Het
Setd2 T C 9: 110,402,753 (GRCm39) I1798T probably damaging Het
Sfswap A G 5: 129,590,298 (GRCm39) Y265C probably damaging Het
Slc9a8 C A 2: 167,266,050 (GRCm39) T9K probably benign Het
Vmn1r181 C T 7: 23,683,909 (GRCm39) L125F possibly damaging Het
Wdfy4 A C 14: 32,745,331 (GRCm39) H2296Q probably benign Het
Other mutations in Synpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Synpo APN 18 60,737,149 (GRCm39) missense probably damaging 1.00
IGL00976:Synpo APN 18 60,736,491 (GRCm39) missense possibly damaging 0.74
IGL01808:Synpo APN 18 60,735,280 (GRCm39) missense probably benign 0.01
IGL02116:Synpo APN 18 60,736,528 (GRCm39) missense probably damaging 1.00
IGL02444:Synpo APN 18 60,735,502 (GRCm39) missense probably damaging 1.00
IGL02838:Synpo APN 18 60,736,872 (GRCm39) missense probably damaging 1.00
R0420:Synpo UTSW 18 60,735,490 (GRCm39) missense probably damaging 0.97
R0650:Synpo UTSW 18 60,735,412 (GRCm39) missense possibly damaging 0.83
R0790:Synpo UTSW 18 60,736,575 (GRCm39) missense probably damaging 0.98
R1213:Synpo UTSW 18 60,735,525 (GRCm39) missense possibly damaging 0.83
R1695:Synpo UTSW 18 60,736,459 (GRCm39) missense probably benign 0.00
R1763:Synpo UTSW 18 60,735,856 (GRCm39) missense probably damaging 1.00
R1920:Synpo UTSW 18 60,736,661 (GRCm39) missense probably benign 0.00
R1921:Synpo UTSW 18 60,736,661 (GRCm39) missense probably benign 0.00
R2133:Synpo UTSW 18 60,735,967 (GRCm39) missense probably damaging 1.00
R4796:Synpo UTSW 18 60,737,386 (GRCm39) missense probably damaging 0.97
R4841:Synpo UTSW 18 60,736,684 (GRCm39) missense probably damaging 0.99
R4842:Synpo UTSW 18 60,736,684 (GRCm39) missense probably damaging 0.99
R4911:Synpo UTSW 18 60,762,936 (GRCm39) utr 5 prime probably benign
R5091:Synpo UTSW 18 60,735,831 (GRCm39) nonsense probably null
R5327:Synpo UTSW 18 60,736,918 (GRCm39) missense possibly damaging 0.93
R5354:Synpo UTSW 18 60,735,303 (GRCm39) critical splice donor site probably null
R5671:Synpo UTSW 18 60,729,022 (GRCm39) missense probably damaging 0.99
R5868:Synpo UTSW 18 60,737,118 (GRCm39) missense probably damaging 1.00
R6007:Synpo UTSW 18 60,736,687 (GRCm39) missense probably benign 0.35
R7266:Synpo UTSW 18 60,762,631 (GRCm39) missense probably benign 0.00
R7472:Synpo UTSW 18 60,762,895 (GRCm39) missense probably benign 0.00
R7509:Synpo UTSW 18 60,736,566 (GRCm39) missense probably damaging 1.00
R7554:Synpo UTSW 18 60,736,405 (GRCm39) missense probably benign 0.21
R7584:Synpo UTSW 18 60,729,349 (GRCm39) missense probably damaging 0.96
R7615:Synpo UTSW 18 60,737,547 (GRCm39) missense probably damaging 1.00
R7633:Synpo UTSW 18 60,736,500 (GRCm39) missense probably damaging 1.00
R8499:Synpo UTSW 18 60,736,044 (GRCm39) missense probably damaging 1.00
R8512:Synpo UTSW 18 60,735,483 (GRCm39) missense probably damaging 0.99
R8996:Synpo UTSW 18 60,737,230 (GRCm39) missense possibly damaging 0.95
R9116:Synpo UTSW 18 60,735,599 (GRCm39) missense probably damaging 0.98
R9336:Synpo UTSW 18 60,735,472 (GRCm39) missense probably damaging 0.96
R9798:Synpo UTSW 18 60,736,832 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- ATTTCTCCATCCGTGACTGG -3'
(R):5'- GCGGAGACTTTGTCAACAGC -3'

Sequencing Primer
(F):5'- TTCCCTGAGGCTTCCGAGAG -3'
(R):5'- GAGACTTTGTCAACAGCCCCTG -3'
Posted On 2015-03-18