Incidental Mutation 'R8771:Synpo2l'
ID 664424
Institutional Source Beutler Lab
Gene Symbol Synpo2l
Ensembl Gene ENSMUSG00000039376
Gene Name synaptopodin 2-like
Synonyms 1110054M18Rik, Chap
MMRRC Submission 068602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # R8771 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 20709014-20718422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20710491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 939 (S939P)
Ref Sequence ENSEMBL: ENSMUSP00000112792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057090] [ENSMUST00000090469] [ENSMUST00000117386] [ENSMUST00000119483]
AlphaFold Q8BWB1
Predicted Effect probably damaging
Transcript: ENSMUST00000057090
AA Change: S936P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: S936P

DomainStartEndE-ValueType
PDZ 15 85 3.52e-10 SMART
low complexity region 101 112 N/A INTRINSIC
low complexity region 151 162 N/A INTRINSIC
low complexity region 202 230 N/A INTRINSIC
low complexity region 243 257 N/A INTRINSIC
low complexity region 429 444 N/A INTRINSIC
low complexity region 500 518 N/A INTRINSIC
low complexity region 530 540 N/A INTRINSIC
low complexity region 563 580 N/A INTRINSIC
low complexity region 591 604 N/A INTRINSIC
low complexity region 700 726 N/A INTRINSIC
low complexity region 781 797 N/A INTRINSIC
low complexity region 867 880 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090469
SMART Domains Protein: ENSMUSP00000087955
Gene: ENSMUSG00000068697

DomainStartEndE-ValueType
Pfam:Calsarcin 1 296 1.9e-105 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117386
AA Change: S939P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: S939P

DomainStartEndE-ValueType
PDZ 15 88 1.34e-15 SMART
low complexity region 104 115 N/A INTRINSIC
low complexity region 154 165 N/A INTRINSIC
low complexity region 205 233 N/A INTRINSIC
low complexity region 246 260 N/A INTRINSIC
low complexity region 432 447 N/A INTRINSIC
low complexity region 503 521 N/A INTRINSIC
low complexity region 533 543 N/A INTRINSIC
low complexity region 566 583 N/A INTRINSIC
low complexity region 594 607 N/A INTRINSIC
low complexity region 703 729 N/A INTRINSIC
low complexity region 784 800 N/A INTRINSIC
low complexity region 870 883 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119483
AA Change: S710P

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: S710P

DomainStartEndE-ValueType
low complexity region 203 218 N/A INTRINSIC
low complexity region 274 292 N/A INTRINSIC
low complexity region 304 314 N/A INTRINSIC
low complexity region 337 354 N/A INTRINSIC
low complexity region 365 378 N/A INTRINSIC
low complexity region 474 500 N/A INTRINSIC
low complexity region 555 571 N/A INTRINSIC
low complexity region 641 654 N/A INTRINSIC
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,880,320 (GRCm39) I451T probably damaging Het
Acin1 T C 14: 54,880,496 (GRCm39) K1236E unknown Het
AI661453 T C 17: 47,777,683 (GRCm39) S470P unknown Het
Ano5 C A 7: 51,216,095 (GRCm39) N357K probably damaging Het
Ano5 C T 7: 51,220,047 (GRCm39) Q396* probably null Het
Baz1b T A 5: 135,273,151 (GRCm39) M1425K probably benign Het
Cdh22 A T 2: 164,988,689 (GRCm39) V222E possibly damaging Het
Celsr1 A T 15: 85,788,175 (GRCm39) S2692R probably benign Het
Ces5a A G 8: 94,255,249 (GRCm39) I144T possibly damaging Het
D5Ertd579e T A 5: 36,761,940 (GRCm39) N1309I probably damaging Het
Dnmt3b C T 2: 153,504,734 (GRCm39) T112M possibly damaging Het
Eif4g3 C T 4: 137,907,848 (GRCm39) Q1283* probably null Het
Etnppl T A 3: 130,414,024 (GRCm39) M41K probably damaging Het
Hhatl G A 9: 121,617,776 (GRCm39) T271I possibly damaging Het
Igkv5-37 A G 6: 69,940,423 (GRCm39) S74P probably damaging Het
Krt87 A G 15: 101,385,779 (GRCm39) V272A probably benign Het
Lgr6 A T 1: 134,933,429 (GRCm39) L262* probably null Het
Lrriq3 G A 3: 154,899,270 (GRCm39) V590I probably damaging Het
Mfsd13a T C 19: 46,360,668 (GRCm39) V382A probably damaging Het
Minar2 T C 18: 59,200,052 (GRCm39) probably benign Het
Mrc2 A G 11: 105,240,596 (GRCm39) T1429A probably benign Het
Mroh5 A T 15: 73,693,203 (GRCm39) M79K possibly damaging Het
Myo1c A G 11: 75,556,709 (GRCm39) K553R probably benign Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Or4c12 T C 2: 89,773,565 (GRCm39) K298R probably benign Het
Or5aq6 T C 2: 86,923,294 (GRCm39) Y149C probably benign Het
Or5m10b T G 2: 85,699,712 (GRCm39) Y259D probably damaging Het
Or5p76 T A 7: 108,122,632 (GRCm39) N175I possibly damaging Het
Prl7a1 A T 13: 27,819,811 (GRCm39) W148R probably damaging Het
Ptpn2 G T 18: 67,805,659 (GRCm39) T402K probably benign Het
Ptprf A G 4: 118,068,987 (GRCm39) M1665T possibly damaging Het
Raet1e G T 10: 22,057,041 (GRCm39) V122F probably damaging Het
Serpina3m A G 12: 104,357,841 (GRCm39) E255G probably damaging Het
Sorcs2 T C 5: 36,188,624 (GRCm39) Y828C probably damaging Het
Sprr1a T A 3: 92,391,989 (GRCm39) H4L probably benign Het
Sptssa A G 12: 54,703,211 (GRCm39) Y20H probably damaging Het
Tdrd7 T C 4: 46,010,800 (GRCm39) V568A probably damaging Het
Tmem132c C T 5: 127,437,192 (GRCm39) P227L probably benign Het
Tmtc3 A G 10: 100,286,180 (GRCm39) S548P possibly damaging Het
Trip12 A T 1: 84,721,018 (GRCm39) probably benign Het
Ttll6 A G 11: 96,042,762 (GRCm39) Y436C probably damaging Het
Unc80 A G 1: 66,685,554 (GRCm39) D2226G possibly damaging Het
Vmn1r142 T C 7: 21,862,737 (GRCm39) M242V probably benign Het
Vmn2r12 T G 5: 109,239,952 (GRCm39) T204P possibly damaging Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r61 C A 7: 41,916,194 (GRCm39) A269D probably damaging Het
Zfp148 A G 16: 33,317,656 (GRCm39) D776G possibly damaging Het
Zfp775 A T 6: 48,596,906 (GRCm39) Q260L probably benign Het
Other mutations in Synpo2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0048:Synpo2l UTSW 14 20,716,340 (GRCm39) unclassified probably benign
R0277:Synpo2l UTSW 14 20,711,856 (GRCm39) missense probably damaging 1.00
R0440:Synpo2l UTSW 14 20,711,466 (GRCm39) missense possibly damaging 0.89
R0540:Synpo2l UTSW 14 20,710,748 (GRCm39) missense probably damaging 1.00
R0607:Synpo2l UTSW 14 20,710,748 (GRCm39) missense probably damaging 1.00
R0712:Synpo2l UTSW 14 20,711,907 (GRCm39) missense probably damaging 1.00
R1175:Synpo2l UTSW 14 20,718,235 (GRCm39) missense possibly damaging 0.93
R1563:Synpo2l UTSW 14 20,711,346 (GRCm39) missense probably damaging 1.00
R1729:Synpo2l UTSW 14 20,715,887 (GRCm39) missense probably damaging 1.00
R1730:Synpo2l UTSW 14 20,715,887 (GRCm39) missense probably damaging 1.00
R1739:Synpo2l UTSW 14 20,715,887 (GRCm39) missense probably damaging 1.00
R2199:Synpo2l UTSW 14 20,711,987 (GRCm39) missense probably benign 0.00
R2213:Synpo2l UTSW 14 20,710,734 (GRCm39) missense probably damaging 1.00
R3085:Synpo2l UTSW 14 20,712,248 (GRCm39) missense probably damaging 1.00
R4787:Synpo2l UTSW 14 20,711,765 (GRCm39) missense possibly damaging 0.49
R5256:Synpo2l UTSW 14 20,711,082 (GRCm39) missense probably benign 0.00
R5454:Synpo2l UTSW 14 20,712,360 (GRCm39) missense probably damaging 0.99
R5455:Synpo2l UTSW 14 20,712,360 (GRCm39) missense probably damaging 0.99
R5765:Synpo2l UTSW 14 20,716,198 (GRCm39) missense possibly damaging 0.95
R5950:Synpo2l UTSW 14 20,716,003 (GRCm39) missense probably benign 0.00
R6376:Synpo2l UTSW 14 20,710,702 (GRCm39) missense probably damaging 1.00
R6438:Synpo2l UTSW 14 20,711,204 (GRCm39) missense probably benign 0.00
R6440:Synpo2l UTSW 14 20,718,244 (GRCm39) missense probably damaging 0.98
R6511:Synpo2l UTSW 14 20,712,518 (GRCm39) missense probably damaging 1.00
R6834:Synpo2l UTSW 14 20,710,702 (GRCm39) missense probably damaging 1.00
R7735:Synpo2l UTSW 14 20,711,243 (GRCm39) missense possibly damaging 0.88
R7968:Synpo2l UTSW 14 20,716,870 (GRCm39) splice site probably null
R8250:Synpo2l UTSW 14 20,712,344 (GRCm39) missense probably benign 0.03
R8282:Synpo2l UTSW 14 20,711,204 (GRCm39) missense probably benign 0.00
R8359:Synpo2l UTSW 14 20,716,208 (GRCm39) missense probably benign
R8853:Synpo2l UTSW 14 20,711,442 (GRCm39) missense probably damaging 1.00
R9136:Synpo2l UTSW 14 20,715,857 (GRCm39) missense probably damaging 0.97
R9253:Synpo2l UTSW 14 20,716,738 (GRCm39) missense possibly damaging 0.52
R9705:Synpo2l UTSW 14 20,710,989 (GRCm39) missense probably damaging 0.99
Z1088:Synpo2l UTSW 14 20,716,035 (GRCm39) missense probably damaging 0.99
Z1177:Synpo2l UTSW 14 20,710,572 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACTATCTCTGGCAATCGGC -3'
(R):5'- AAACTGCCCGAGTTCAGGAG -3'

Sequencing Primer
(F):5'- GCAATTGGCCTCAGATGTGG -3'
(R):5'- AGGAGATCCGCAGATTTTCC -3'
Posted On 2021-03-08