Incidental Mutation 'R2262:Stmn2'
ID 243841
Institutional Source Beutler Lab
Gene Symbol Stmn2
Ensembl Gene ENSMUSG00000027500
Gene Name stathmin-like 2
Synonyms Scgn10, SCG10
MMRRC Submission 040262-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # R2262 (G1)
Quality Score 214
Status Validated
Chromosome 3
Chromosomal Location 8574587-8626664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8606955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 25 (F25S)
Ref Sequence ENSEMBL: ENSMUSP00000029002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029002]
AlphaFold P55821
Predicted Effect probably damaging
Transcript: ENSMUST00000029002
AA Change: F25S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029002
Gene: ENSMUSG00000027500
AA Change: F25S

DomainStartEndE-ValueType
Pfam:Stathmin 41 174 3.7e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194905
Meta Mutation Damage Score 0.6429 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 A G 4: 132,790,474 (GRCm39) T572A unknown Het
Bco1 T C 8: 117,859,764 (GRCm39) L489S probably damaging Het
Brinp1 A G 4: 68,747,591 (GRCm39) Y171H probably damaging Het
C1rl A T 6: 124,483,907 (GRCm39) I186F probably damaging Het
Cacna1d A G 14: 30,212,973 (GRCm39) V29A possibly damaging Het
Calcrl T C 2: 84,175,517 (GRCm39) D279G probably damaging Het
Cass4 T C 2: 172,269,174 (GRCm39) S421P probably damaging Het
Casz1 G T 4: 149,013,556 (GRCm39) R40L probably damaging Het
Cdh23 A G 10: 60,152,907 (GRCm39) V2372A probably damaging Het
Cdk17 T A 10: 93,047,820 (GRCm39) S56T possibly damaging Het
Ces2h T A 8: 105,743,191 (GRCm39) M142K probably damaging Het
Cfap161 C T 7: 83,442,580 (GRCm39) V78I probably benign Het
Chst8 T A 7: 34,375,435 (GRCm39) M135L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dcc C T 18: 71,507,622 (GRCm39) E917K probably damaging Het
Dnah11 T A 12: 117,843,760 (GRCm39) M4362L probably benign Het
Dnah11 T C 12: 117,930,374 (GRCm39) T3324A probably damaging Het
Dnah8 A G 17: 30,892,809 (GRCm39) N798S probably damaging Het
Dnajc3 A G 14: 119,198,232 (GRCm39) Q118R probably damaging Het
Dok4 A T 8: 95,593,140 (GRCm39) C182S probably damaging Het
Fnbp4 G T 2: 90,587,748 (GRCm39) L375F probably damaging Het
Gbp8 T C 5: 105,163,999 (GRCm39) Q433R possibly damaging Het
Glt1d1 A G 5: 127,734,176 (GRCm39) M117V probably benign Het
Hcar1 A C 5: 124,016,649 (GRCm39) D347E probably benign Het
Kif16b T C 2: 142,582,837 (GRCm39) K563E probably damaging Het
Klra17 A G 6: 129,851,757 (GRCm39) probably null Het
Krt35 C T 11: 99,986,593 (GRCm39) M140I probably benign Het
Lamb2 A T 9: 108,357,809 (GRCm39) I111F probably damaging Het
Nell1 C T 7: 50,210,569 (GRCm39) T494I possibly damaging Het
Noa1 G A 5: 77,457,651 (GRCm39) Q85* probably null Het
Nsun4 A T 4: 115,910,147 (GRCm39) S138T probably benign Het
Pcdh1 A T 18: 38,331,710 (GRCm39) L431H probably benign Het
Pde1a T A 2: 79,959,275 (GRCm39) probably benign Het
Pdgfra T C 5: 75,346,184 (GRCm39) V778A probably benign Het
Plekhj1 A T 10: 80,632,306 (GRCm39) N55K probably benign Het
Ptpn20 A G 14: 33,334,268 (GRCm39) M49V probably benign Het
Rbm6 A G 9: 107,668,289 (GRCm39) L547P probably damaging Het
Rexo1 C T 10: 80,385,403 (GRCm39) E552K probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Saxo1 C T 4: 86,397,212 (GRCm39) D109N probably damaging Het
Setd2 A G 9: 110,390,311 (GRCm39) probably benign Het
Slc22a28 T C 19: 8,048,573 (GRCm39) Y358C probably benign Het
Sptbn4 T A 7: 27,133,782 (GRCm39) D77V probably damaging Het
Ssh1 T C 5: 114,080,764 (GRCm39) S867G possibly damaging Het
Tcirg1 C T 19: 3,953,591 (GRCm39) R112H possibly damaging Het
Tekt4 T A 17: 25,695,485 (GRCm39) S439R possibly damaging Het
Trpc1 T A 9: 95,588,986 (GRCm39) N746I probably damaging Het
Tuba1c A G 15: 98,935,757 (GRCm39) H406R probably damaging Het
Uqcrfs1 G A 13: 30,725,090 (GRCm39) S150L probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Vmn1r68 T C 7: 10,261,372 (GRCm39) E242G probably damaging Het
Vmn2r29 T A 7: 7,243,085 (GRCm39) H22L possibly damaging Het
Vmn2r32 T A 7: 7,477,618 (GRCm39) I258L probably benign Het
Vmn2r37 T A 7: 9,220,943 (GRCm39) T307S probably damaging Het
Vmn2r6 T C 3: 64,464,090 (GRCm39) N248S probably benign Het
Vmn2r63 G T 7: 42,578,031 (GRCm39) T169N probably benign Het
Vmn2r67 T C 7: 84,786,182 (GRCm39) T608A probably damaging Het
Wdr87-ps T C 7: 29,231,987 (GRCm39) noncoding transcript Het
Xpo1 T A 11: 23,234,634 (GRCm39) probably null Het
Zfp180 T G 7: 23,804,049 (GRCm39) V156G probably benign Het
Zfp37 A T 4: 62,109,873 (GRCm39) L397Q probably damaging Het
Other mutations in Stmn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02209:Stmn2 APN 3 8,625,321 (GRCm39) splice site probably benign
R0362:Stmn2 UTSW 3 8,610,750 (GRCm39) missense probably damaging 0.99
R1885:Stmn2 UTSW 3 8,606,964 (GRCm39) missense probably damaging 1.00
R1927:Stmn2 UTSW 3 8,610,636 (GRCm39) missense probably benign 0.00
R2261:Stmn2 UTSW 3 8,606,955 (GRCm39) missense probably damaging 0.97
R2901:Stmn2 UTSW 3 8,606,981 (GRCm39) missense probably benign
R4066:Stmn2 UTSW 3 8,574,668 (GRCm39) utr 5 prime probably benign
R4938:Stmn2 UTSW 3 8,610,792 (GRCm39) missense probably damaging 1.00
R5191:Stmn2 UTSW 3 8,610,635 (GRCm39) missense probably benign
R7670:Stmn2 UTSW 3 8,619,925 (GRCm39) missense probably damaging 1.00
R8511:Stmn2 UTSW 3 8,574,615 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CCCTGCAAGCATGAATATGTC -3'
(R):5'- AGTCGGTCATCAGTAAGGCC -3'

Sequencing Primer
(F):5'- GTCTCTCATTCATTGGAAAACCAAGC -3'
(R):5'- TCGGTCATCAGTAAGGCCTAATG -3'
Posted On 2014-10-16