Incidental Mutation 'R1927:Stmn2'
ID 214929
Institutional Source Beutler Lab
Gene Symbol Stmn2
Ensembl Gene ENSMUSG00000027500
Gene Name stathmin-like 2
Synonyms Scgn10, SCG10
MMRRC Submission 039945-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # R1927 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 8574587-8626664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8610636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 40 (M40K)
Ref Sequence ENSEMBL: ENSMUSP00000029002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029002]
AlphaFold P55821
Predicted Effect probably benign
Transcript: ENSMUST00000029002
AA Change: M40K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029002
Gene: ENSMUSG00000027500
AA Change: M40K

DomainStartEndE-ValueType
Pfam:Stathmin 41 174 3.7e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194905
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,613,338 (GRCm39) S31P probably damaging Het
Abca12 G T 1: 71,283,999 (GRCm39) H2524Q probably damaging Het
Acsl5 T C 19: 55,266,586 (GRCm39) V135A probably benign Het
Actl11 T G 9: 107,806,736 (GRCm39) L353R possibly damaging Het
Adcy6 G T 15: 98,496,379 (GRCm39) probably null Het
B230104I21Rik A G 4: 154,425,694 (GRCm39) I697T probably damaging Het
BC061237 G A 14: 44,738,700 (GRCm39) R33K possibly damaging Het
Brf1 C A 12: 112,963,964 (GRCm39) V5F possibly damaging Het
Chmp2a C T 7: 12,767,863 (GRCm39) A21T possibly damaging Het
Cwh43 A G 5: 73,610,417 (GRCm39) N607S probably benign Het
Ddhd2 G A 8: 26,231,688 (GRCm39) L445F possibly damaging Het
Dicer1 C A 12: 104,669,143 (GRCm39) D1180Y possibly damaging Het
Dnaaf4 A T 9: 72,867,909 (GRCm39) I57L probably damaging Het
Dock5 A T 14: 68,083,511 (GRCm39) S133T possibly damaging Het
Efs A T 14: 55,154,620 (GRCm39) C540S possibly damaging Het
Ehd4 C T 2: 119,921,973 (GRCm39) G428S probably benign Het
Eml1 C T 12: 108,504,476 (GRCm39) R812* probably null Het
Enpp1 C T 10: 24,530,786 (GRCm39) D557N possibly damaging Het
Fn3krp A G 11: 121,315,803 (GRCm39) T65A probably damaging Het
Galnt5 A G 2: 57,888,615 (GRCm39) R72G probably benign Het
Gfod1 C T 13: 43,354,336 (GRCm39) R213H possibly damaging Het
Gm10518 A G 1: 179,631,210 (GRCm39) probably benign Het
Gm5431 A G 11: 48,780,082 (GRCm39) F558S probably damaging Het
Got1 C T 19: 43,504,119 (GRCm39) probably null Het
Gucy2g C T 19: 55,226,191 (GRCm39) V242I probably benign Het
Hdgfl2 T A 17: 56,406,874 (GRCm39) V606E possibly damaging Het
Hoxa3 T C 6: 52,146,979 (GRCm39) probably benign Het
Iqub T A 6: 24,491,670 (GRCm39) I339L probably benign Het
Kdm4c C T 4: 74,263,720 (GRCm39) T668I probably benign Het
Klhl32 T C 4: 24,617,474 (GRCm39) I592V probably benign Het
Mfsd12 G T 10: 81,197,921 (GRCm39) M296I probably benign Het
Mfsd4b4 C T 10: 39,768,437 (GRCm39) A219T probably damaging Het
Mrpl52 T C 14: 54,664,414 (GRCm39) S9P possibly damaging Het
Nbr1 A G 11: 101,458,040 (GRCm39) Y273C possibly damaging Het
Ncf4 G T 15: 78,144,846 (GRCm39) G217V probably damaging Het
Neo1 T C 9: 58,897,668 (GRCm39) E96G probably benign Het
Nid2 T A 14: 19,818,344 (GRCm39) N279K probably damaging Het
Nr5a2 A G 1: 136,872,732 (GRCm39) Y56H probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nynrin A G 14: 56,101,049 (GRCm39) T280A probably benign Het
Or1o2 A G 17: 37,542,434 (GRCm39) Y276H probably damaging Het
Or2b28 T A 13: 21,531,116 (GRCm39) I6N probably benign Het
Or2w2 A G 13: 21,758,426 (GRCm39) F67L probably benign Het
Or55b10 A G 7: 102,143,266 (GRCm39) S239P possibly damaging Het
Or5b109 T C 19: 13,212,393 (GRCm39) Y260H probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Ptprn A G 1: 75,230,766 (GRCm39) V565A probably benign Het
Rbm6 T G 9: 107,730,102 (GRCm39) D182A probably damaging Het
Rhbg A G 3: 88,151,859 (GRCm39) F400L probably benign Het
Rpl22l1 T A 3: 28,860,738 (GRCm39) N33K possibly damaging Het
Rtp1 T A 16: 23,249,959 (GRCm39) I108N probably damaging Het
Sema6b A T 17: 56,439,797 (GRCm39) F15I probably benign Het
Sirpa C T 2: 129,458,296 (GRCm39) T304I possibly damaging Het
Slc22a29 A G 19: 8,184,430 (GRCm39) I257T probably benign Het
Slc41a1 T C 1: 131,768,938 (GRCm39) I256T probably damaging Het
Smg6 A G 11: 75,033,674 (GRCm39) K1208R probably damaging Het
Sorcs1 G T 19: 50,210,633 (GRCm39) P744Q probably damaging Het
Sptbn5 T C 2: 119,900,943 (GRCm39) T213A probably benign Het
St18 A G 1: 6,872,936 (GRCm39) T224A probably benign Het
Stat3 T C 11: 100,785,655 (GRCm39) N465S probably damaging Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Thrb T A 14: 18,008,674 (GRCm38) C133S probably damaging Het
Tmem25 C T 9: 44,707,780 (GRCm39) V172M possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trhde T A 10: 114,636,754 (GRCm39) Y151F probably damaging Het
Trp53bp2 A G 1: 182,280,229 (GRCm39) T912A probably damaging Het
Unc79 C A 12: 103,135,951 (GRCm39) A2269E probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp758 T G 17: 22,594,823 (GRCm39) S436R probably damaging Het
Zfp791 G T 8: 85,837,312 (GRCm39) T184K probably benign Het
Znrf3 A G 11: 5,231,062 (GRCm39) V817A 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
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
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'- CCAACATTTTGTACAATGAGCACATTC -3'
(R):5'- CCCCTGGAGAAAGTTACCTTT -3'

Sequencing Primer
(F):5'- TACACTCTGCTCTATGAGGACAGG -3'
(R):5'- AAAGTTACCTTTCTTCGCTCCTCTG -3'
Posted On 2014-07-14