Incidental Mutation 'R0712:Synpo2l'
ID 62795
Institutional Source Beutler Lab
Gene Symbol Synpo2l
Ensembl Gene ENSMUSG00000039376
Gene Name synaptopodin 2-like
Synonyms 1110054M18Rik, Chap
MMRRC Submission 038895-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # R0712 (G1)
Quality Score 84
Status Not validated
Chromosome 14
Chromosomal Location 20709014-20718422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20711907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 238 (S238P)
Ref Sequence ENSEMBL: ENSMUSP00000112760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057090] [ENSMUST00000117386] [ENSMUST00000119483]
AlphaFold Q8BWB1
Predicted Effect probably damaging
Transcript: ENSMUST00000057090
AA Change: S464P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: S464P

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 damaging
Transcript: ENSMUST00000117386
AA Change: S467P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: S467P

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 damaging
Transcript: ENSMUST00000119483
AA Change: S238P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: S238P

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd1 G A X: 72,774,471 (GRCm39) V489M possibly damaging Het
Anln A T 9: 22,291,594 (GRCm39) V78E probably benign Het
Atp2b4 T C 1: 133,658,216 (GRCm39) K565E probably damaging Het
Cap2 T C 13: 46,768,837 (GRCm39) probably null Het
Cdh22 A G 2: 165,012,576 (GRCm39) Y170H probably damaging Het
Chrna5 A T 9: 54,911,647 (GRCm39) K45I probably damaging Het
Dnaaf4 G T 9: 72,867,939 (GRCm39) G67* probably null Het
Hdac8 T A X: 101,543,524 (GRCm39) M67L probably benign Het
Lama1 A G 17: 68,086,037 (GRCm39) probably null Het
Lrba T A 3: 86,205,297 (GRCm39) Y380* probably null Het
Mastl A G 2: 23,041,005 (GRCm39) Y106H probably damaging Het
Obscn T C 11: 58,940,271 (GRCm39) E5210G possibly damaging Het
Or12d2 T A 17: 37,624,975 (GRCm39) H100L probably damaging Het
Or4d5 A G 9: 40,012,726 (GRCm39) V20A probably benign Het
Pcgf2 T C 11: 97,581,830 (GRCm39) Y21C probably damaging Het
Penk T C 4: 4,134,257 (GRCm39) E130G probably benign Het
Rnmt G A 18: 68,440,859 (GRCm39) probably null Het
Stk11ip T A 1: 75,504,091 (GRCm39) L277Q probably damaging Het
Tex264 A C 9: 106,536,431 (GRCm39) L242R possibly damaging Het
Ubald2 T C 11: 116,325,401 (GRCm39) F46S probably damaging Het
Zfp692 T C 11: 58,205,140 (GRCm39) V463A 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
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
R8771:Synpo2l UTSW 14 20,710,491 (GRCm39) missense probably damaging 0.98
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'- GTACAAGGAACTGGTAGCGGTCAC -3'
(R):5'- AGCAGCTATGCTTAATGGGCAGAG -3'

Sequencing Primer
(F):5'- TAGCGGTCACAGGACCAG -3'
(R):5'- AGCTGTGCTCCCACTCA -3'
Posted On 2013-07-30