Incidental Mutation 'R8074:Septin2'
ID 620384
Institutional Source Beutler Lab
Gene Symbol Septin2
Ensembl Gene ENSMUSG00000026276
Gene Name septin 2
Synonyms Nedd5, Sept2
MMRRC Submission 067508-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.908) question?
Stock # R8074 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93406671-93437455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93433283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 315 (D315G)
Ref Sequence ENSEMBL: ENSMUSP00000027495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027495] [ENSMUST00000168776] [ENSMUST00000172165] [ENSMUST00000179353]
AlphaFold P42208
PDB Structure Crystal structure of Septin 2 in complex with GppNHp and Mg2+ [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027495
AA Change: D315G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: D315G

DomainStartEndE-ValueType
Pfam:Septin 34 313 1.1e-129 PFAM
Pfam:MMR_HSR1 39 242 3.2e-8 PFAM
low complexity region 330 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000157021
Predicted Effect probably benign
Transcript: ENSMUST00000168776
AA Change: D315G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: D315G

DomainStartEndE-ValueType
Pfam:Septin 34 313 1.4e-129 PFAM
Pfam:MMR_HSR1 39 240 1.2e-8 PFAM
low complexity region 330 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172165
AA Change: D275G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: D275G

DomainStartEndE-ValueType
Pfam:MMR_HSR1 1 203 5.8e-8 PFAM
Pfam:Septin 1 273 1.5e-125 PFAM
coiled coil region 277 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179353
AA Change: D315G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: D315G

DomainStartEndE-ValueType
Pfam:Septin 34 313 1.1e-129 PFAM
Pfam:MMR_HSR1 39 242 3.2e-8 PFAM
low complexity region 330 348 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,829,320 (GRCm39) I1380L probably benign Het
Adcy3 T C 12: 4,184,420 (GRCm39) V32A probably benign Het
Ano3 T A 2: 110,780,577 (GRCm39) probably benign Het
Arhgef12 G A 9: 42,882,399 (GRCm39) R1482* probably null Het
Cd300lg T G 11: 101,932,427 (GRCm39) L4R probably damaging Het
Cfap57 T A 4: 118,426,822 (GRCm39) K1072M possibly damaging Het
Clasp1 G T 1: 118,390,213 (GRCm39) M132I probably benign Het
Clec18a T G 8: 111,798,230 (GRCm39) D489A probably damaging Het
Cngb1 A G 8: 95,978,801 (GRCm39) S551P Het
Efna4 G A 3: 89,242,633 (GRCm39) T87M probably benign Het
Fam229b T C 10: 38,996,255 (GRCm39) R42G probably null Het
Gm17175 C T 14: 51,809,080 (GRCm39) M95I probably damaging Het
Grk4 A G 5: 34,833,482 (GRCm39) E96G probably benign Het
Helb A C 10: 119,925,321 (GRCm39) F1019V probably benign Het
Hsd17b2 T C 8: 118,485,440 (GRCm39) V301A possibly damaging Het
Htr1b A G 9: 81,513,582 (GRCm39) F342L probably benign Het
Idua C A 5: 108,828,441 (GRCm39) A265E possibly damaging Het
Jup T G 11: 100,277,113 (GRCm39) T32P probably damaging Het
Kidins220 A G 12: 25,107,715 (GRCm39) K1632E probably benign Het
Lef1 G A 3: 130,997,954 (GRCm39) probably null Het
Lypla2 A G 4: 135,697,112 (GRCm39) probably null Het
Mall A G 2: 127,571,785 (GRCm39) M1T probably null Het
Mettl25 G T 10: 105,661,941 (GRCm39) A343E probably benign Het
Mpdz T C 4: 81,267,324 (GRCm39) N940S probably benign Het
Nsun4 A T 4: 115,908,631 (GRCm39) V643D possibly damaging Het
Nupr1 A T 7: 126,224,109 (GRCm39) F70Y possibly damaging Het
Or1e17 T A 11: 73,831,213 (GRCm39) V47D possibly damaging Het
Or52b4i A G 7: 102,191,830 (GRCm39) H229R probably benign Het
Or52e8 A T 7: 104,624,934 (GRCm39) I90N probably damaging Het
Or5ac20 A G 16: 59,104,549 (GRCm39) F104L probably benign Het
Or8g32 A T 9: 39,305,242 (GRCm39) I49F probably damaging Het
Or8k3 C G 2: 86,058,473 (GRCm39) V281L possibly damaging Het
Pabpc4 A T 4: 123,180,508 (GRCm39) M77L probably benign Het
Phactr3 A G 2: 177,944,589 (GRCm39) E429G probably damaging Het
Polr3b A G 10: 84,549,523 (GRCm39) D915G probably damaging Het
Pramel14 A T 4: 143,718,424 (GRCm39) F340I probably benign Het
Prkcg T A 7: 3,372,037 (GRCm39) M501K probably damaging Het
Prkch G A 12: 73,747,041 (GRCm39) A307T possibly damaging Het
Ptprt A G 2: 161,769,581 (GRCm39) V428A possibly damaging Het
Rnf145 C A 11: 44,448,263 (GRCm39) D373E probably damaging Het
Scfd2 G T 5: 74,680,257 (GRCm39) Q299K probably benign Het
Sf3a1 T A 11: 4,125,435 (GRCm39) Y408* probably null Het
Siglecf A T 7: 43,001,214 (GRCm39) N61Y possibly damaging Het
Sis A T 3: 72,824,531 (GRCm39) I1334K probably damaging Het
Slc38a6 A T 12: 73,391,658 (GRCm39) T307S possibly damaging Het
Spag9 T A 11: 94,002,877 (GRCm39) F1129Y probably damaging Het
Sra1 G A 18: 36,808,064 (GRCm39) A388V possibly damaging Het
Srpk1 T G 17: 28,840,990 (GRCm39) K12T probably damaging Het
Stam2 A T 2: 52,596,438 (GRCm39) I333K probably damaging Het
Tle1 GAA GA 4: 72,057,216 (GRCm39) probably null Het
Tmem121b T C 6: 120,469,869 (GRCm39) K283E possibly damaging Het
Tmem200a T C 10: 25,868,850 (GRCm39) E473G probably damaging Het
Tnxb T A 17: 34,922,955 (GRCm39) S2513T probably benign Het
Ttc16 A T 2: 32,664,135 (GRCm39) probably benign Het
Ttll8 C T 15: 88,799,578 (GRCm39) C621Y probably damaging Het
Ubn2 T A 6: 38,417,475 (GRCm39) M171K probably benign Het
Vmn2r19 T A 6: 123,312,904 (GRCm39) V658D probably damaging Het
Vmn2r6 A T 3: 64,455,064 (GRCm39) probably benign Het
Vwa3a A T 7: 120,398,321 (GRCm39) I941L probably benign Het
Zbtb24 A G 10: 41,327,228 (GRCm39) D38G probably damaging Het
Zfp628 T C 7: 4,923,205 (GRCm39) C476R probably damaging Het
Zfp831 A C 2: 174,486,528 (GRCm39) N401T possibly damaging Het
Other mutations in Septin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Septin2 APN 1 93,426,864 (GRCm39) missense probably damaging 1.00
IGL01909:Septin2 APN 1 93,426,823 (GRCm39) missense probably damaging 1.00
IGL02504:Septin2 APN 1 93,428,203 (GRCm39) missense probably benign 0.06
R0136:Septin2 UTSW 1 93,434,772 (GRCm39) missense possibly damaging 0.57
R0140:Septin2 UTSW 1 93,429,361 (GRCm39) missense probably damaging 1.00
R0335:Septin2 UTSW 1 93,423,321 (GRCm39) missense probably damaging 1.00
R0538:Septin2 UTSW 1 93,429,345 (GRCm39) missense probably damaging 1.00
R1370:Septin2 UTSW 1 93,426,828 (GRCm39) missense probably damaging 1.00
R1463:Septin2 UTSW 1 93,427,037 (GRCm39) missense possibly damaging 0.79
R4832:Septin2 UTSW 1 93,426,849 (GRCm39) missense probably damaging 0.98
R5443:Septin2 UTSW 1 93,425,174 (GRCm39) missense possibly damaging 0.95
R5845:Septin2 UTSW 1 93,426,757 (GRCm39) splice site probably null
R5898:Septin2 UTSW 1 93,407,023 (GRCm39) missense probably benign
R6122:Septin2 UTSW 1 93,425,098 (GRCm39) missense probably damaging 1.00
R6542:Septin2 UTSW 1 93,425,188 (GRCm39) critical splice donor site probably null
R7784:Septin2 UTSW 1 93,425,166 (GRCm39) missense probably damaging 1.00
R8266:Septin2 UTSW 1 93,429,248 (GRCm39) missense possibly damaging 0.91
R8277:Septin2 UTSW 1 93,427,030 (GRCm39) missense probably benign 0.20
R9154:Septin2 UTSW 1 93,429,310 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAATTTCCAGTTTCATGTTTTGTCT -3'
(R):5'- GCTACTTGAGATTGAATGAGGC -3'

Sequencing Primer
(F):5'- TCAGCCTTAGGAATGAATCTGGC -3'
(R):5'- CTACTTGAGATTGAATGAGGCAATAC -3'
Posted On 2020-01-23