Incidental Mutation 'R2901:Stmn2'
ID 261462
Institutional Source Beutler Lab
Gene Symbol Stmn2
Ensembl Gene ENSMUSG00000027500
Gene Name stathmin-like 2
Synonyms Scgn10, SCG10
MMRRC Submission 040489-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R2901 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 8574587-8626664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8606981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 34 (I34V)
Ref Sequence ENSEMBL: ENSMUSP00000029002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029002]
AlphaFold P55821
Predicted Effect probably benign
Transcript: ENSMUST00000029002
AA Change: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029002
Gene: ENSMUSG00000027500
AA Change: I34V

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 0.0695 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,038,231 (GRCm39) M276K probably damaging Het
Angpt4 G T 2: 151,753,259 (GRCm39) C3F unknown Het
C1qtnf1 A G 11: 118,338,930 (GRCm39) probably null Het
Cep192 C T 18: 68,002,512 (GRCm39) R2236C possibly damaging Het
Cep68 A G 11: 20,190,187 (GRCm39) L275P probably damaging Het
Clvs1 A G 4: 9,281,972 (GRCm39) K139E probably damaging Het
Col25a1 A T 3: 130,340,040 (GRCm39) E351V probably damaging Het
Dnah7a A T 1: 53,467,031 (GRCm39) L3611Q probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gm3336 T C 8: 71,173,275 (GRCm39) S96P possibly damaging Het
Gm9845 T A 3: 39,412,742 (GRCm39) noncoding transcript Het
Klf12 G T 14: 100,137,582 (GRCm39) F321L probably damaging Het
Klhl20 G T 1: 160,937,122 (GRCm39) C84* probably null Het
Krt23 T C 11: 99,374,797 (GRCm39) D260G probably damaging Het
Lpin1 T C 12: 16,603,999 (GRCm39) K578E probably benign Het
Mgat4f T C 1: 134,318,662 (GRCm39) L478P probably damaging Het
Mrc1 A G 2: 14,333,354 (GRCm39) H1345R possibly damaging Het
Nme8 A T 13: 19,859,834 (GRCm39) V23E probably benign Het
Or10w1 C T 19: 13,632,309 (GRCm39) P167L probably damaging Het
Or8g34 T A 9: 39,373,234 (GRCm39) I169N probably damaging Het
Prf1 A T 10: 61,136,098 (GRCm39) N125Y probably damaging Het
Ptp4a1 T C 1: 30,982,385 (GRCm39) N142D possibly damaging Het
Simc1 G A 13: 54,689,331 (GRCm39) probably null Het
Snai2 T C 16: 14,523,847 (GRCm39) S4P possibly damaging Het
Ssc4d G A 5: 135,993,517 (GRCm39) P113L possibly damaging Het
Tspoap1 C T 11: 87,668,801 (GRCm39) P1358L probably benign Het
Ubr3 T C 2: 69,846,536 (GRCm39) S1620P possibly damaging Het
Vps51 G A 19: 6,126,468 (GRCm39) R95W probably damaging Het
Zup1 C T 10: 33,803,608 (GRCm39) R492Q probably damaging Het
Zup1 T C 10: 33,804,059 (GRCm39) T472A probably benign 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
R2262:Stmn2 UTSW 3 8,606,955 (GRCm39) missense probably damaging 0.97
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'- CTGCAAGCATGAATATGTCTCTC -3'
(R):5'- AGTCGGTCATCAGTAAGGCC -3'

Sequencing Primer
(F):5'- GTCTCTCATTCATTGGAAAACCAAGC -3'
(R):5'- TCGGTCATCAGTAAGGCCTAATG -3'
Posted On 2015-01-23