Incidental Mutation 'R8317:Stk32b'
ID 641736
Institutional Source Beutler Lab
Gene Symbol Stk32b
Ensembl Gene ENSMUSG00000029123
Gene Name serine/threonine kinase 32B
Synonyms Stk32, 2510009F08Rik, YANK2, STKG6
MMRRC Submission 067721-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 37604169-37874503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37612319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 356 (E356K)
Ref Sequence ENSEMBL: ENSMUSP00000092432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094836]
AlphaFold Q9JJX8
Predicted Effect probably damaging
Transcript: ENSMUST00000094836
AA Change: E356K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: E356K

DomainStartEndE-ValueType
S_TKc 23 283 1.18e-84 SMART
low complexity region 323 336 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,723,236 (GRCm39) V621M probably damaging Het
Adipor1 C T 1: 134,355,905 (GRCm39) R235W probably benign Het
Agbl1 T A 7: 76,071,929 (GRCm39) M594K unknown Het
Ang2 A G 14: 51,433,349 (GRCm39) V11A probably benign Het
Ccl25 A G 8: 4,404,138 (GRCm39) N80S probably benign Het
Cd19 A T 7: 126,012,615 (GRCm39) C259* probably null Het
Cd209b A T 8: 3,972,018 (GRCm39) I177N probably damaging Het
Cdc20 C A 4: 118,294,323 (GRCm39) probably benign Het
Cdh23 A T 10: 60,147,037 (GRCm39) probably null Het
Cdh23 G A 10: 60,272,568 (GRCm39) R536W probably damaging Het
Cfap299 A C 5: 98,885,459 (GRCm39) H122P probably benign Het
Chd6 T C 2: 160,832,241 (GRCm39) D977G probably damaging Het
Cilk1 T A 9: 78,060,933 (GRCm39) V193E probably damaging Het
Csl T G 10: 99,594,900 (GRCm39) H55P probably damaging Het
Cstf2t G A 19: 31,061,648 (GRCm39) A395T probably benign Het
Dhx58 A T 11: 100,594,388 (GRCm39) I101N probably damaging Het
Dlg5 A C 14: 24,241,298 (GRCm39) S200A probably damaging Het
Epb41 C A 4: 131,684,961 (GRCm39) G86V Het
Fat4 T C 3: 39,012,659 (GRCm39) V2318A possibly damaging Het
Fbxo32 A T 15: 58,068,626 (GRCm39) F119I probably damaging Het
Flacc1 T C 1: 58,715,707 (GRCm39) K170E possibly damaging Het
Fndc1 A T 17: 8,019,720 (GRCm39) L153* probably null Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Gm4559 CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT 7: 141,827,553 (GRCm39) probably benign Het
Gpr63 A T 4: 25,008,223 (GRCm39) T316S probably damaging Het
Il16 T C 7: 83,304,538 (GRCm39) T665A probably benign Het
Lama5 T C 2: 179,848,784 (GRCm39) N272S probably damaging Het
Map3k1 T C 13: 111,894,696 (GRCm39) Y660C probably damaging Het
Mbd3l1 C A 9: 18,396,117 (GRCm39) L81I probably benign Het
Morc3 C A 16: 93,659,417 (GRCm39) Q442K probably benign Het
Muc16 G A 9: 18,569,339 (GRCm39) T1060I unknown Het
Myh11 T A 16: 14,025,941 (GRCm39) D1343V Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Nbn T G 4: 15,970,893 (GRCm39) L292W probably damaging Het
Ndufb11b A G 15: 81,864,978 (GRCm39) Y73C probably damaging Het
Nebl A G 2: 17,355,568 (GRCm39) M195T possibly damaging Het
Net1 T C 13: 3,957,856 (GRCm39) K66E possibly damaging Het
Nod1 T C 6: 54,920,425 (GRCm39) Y631C probably damaging Het
Nxf1 A G 19: 8,748,407 (GRCm39) H12R probably benign Het
Onecut3 T C 10: 80,331,161 (GRCm39) L107P unknown Het
Opa1 T G 16: 29,432,962 (GRCm39) I512S probably damaging Het
P3h3 C T 6: 124,832,116 (GRCm39) G257R probably damaging Het
Pappa2 A G 1: 158,592,530 (GRCm39) C1616R probably damaging Het
Parn T G 16: 13,358,964 (GRCm39) K593Q probably damaging Het
Pcare A C 17: 72,056,197 (GRCm39) L1160R probably benign Het
Polr3g T C 13: 81,826,302 (GRCm39) K173R unknown Het
Prcp A G 7: 92,524,598 (GRCm39) T18A probably benign Het
Sash1 G A 10: 8,605,150 (GRCm39) T1080M possibly damaging Het
Skap2 A G 6: 51,884,865 (GRCm39) probably null Het
Spmip9 C A 6: 70,890,276 (GRCm39) W172L possibly damaging Het
Srebf1 C A 11: 60,091,483 (GRCm39) S1014I possibly damaging Het
Tjp3 T A 10: 81,116,324 (GRCm39) T257S probably benign Het
Trf A G 9: 103,094,715 (GRCm39) Y448H probably damaging Het
Tsnaxip1 G C 8: 106,554,438 (GRCm39) R7P probably benign Het
Vmn1r208 G C 13: 22,956,947 (GRCm39) I183M probably benign Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Wdhd1 A T 14: 47,500,994 (GRCm39) H469Q probably damaging Het
Zbtb7a G C 10: 80,980,784 (GRCm39) G326A probably benign Het
Zfp493 G A 13: 67,931,958 (GRCm39) R19H probably benign Het
Zfp932 A T 5: 110,156,922 (GRCm39) K207* probably null Het
Other mutations in Stk32b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Stk32b APN 5 37,656,374 (GRCm39) splice site probably benign
IGL02525:Stk32b APN 5 37,688,977 (GRCm39) missense probably damaging 1.00
IGL02946:Stk32b APN 5 37,688,883 (GRCm39) splice site probably benign
IGL03277:Stk32b APN 5 37,786,320 (GRCm39) missense probably damaging 0.99
flank UTSW 5 37,624,125 (GRCm39) missense probably damaging 1.00
H8441:Stk32b UTSW 5 37,614,578 (GRCm39) missense probably damaging 1.00
R0042:Stk32b UTSW 5 37,874,092 (GRCm39) missense probably benign 0.09
R0042:Stk32b UTSW 5 37,874,092 (GRCm39) missense probably benign 0.09
R0051:Stk32b UTSW 5 37,616,940 (GRCm39) splice site probably benign
R0051:Stk32b UTSW 5 37,616,940 (GRCm39) splice site probably benign
R0062:Stk32b UTSW 5 37,618,792 (GRCm39) missense probably damaging 1.00
R0062:Stk32b UTSW 5 37,618,792 (GRCm39) missense probably damaging 1.00
R0601:Stk32b UTSW 5 37,688,910 (GRCm39) missense probably damaging 1.00
R0879:Stk32b UTSW 5 37,616,940 (GRCm39) splice site probably benign
R1812:Stk32b UTSW 5 37,624,102 (GRCm39) missense probably damaging 1.00
R1882:Stk32b UTSW 5 37,689,031 (GRCm39) missense possibly damaging 0.91
R1982:Stk32b UTSW 5 37,806,458 (GRCm39) missense probably damaging 0.99
R3899:Stk32b UTSW 5 37,614,498 (GRCm39) missense probably damaging 1.00
R4724:Stk32b UTSW 5 37,612,278 (GRCm39) critical splice donor site probably null
R4885:Stk32b UTSW 5 37,624,141 (GRCm39) missense probably damaging 1.00
R5531:Stk32b UTSW 5 37,617,078 (GRCm39) splice site probably null
R5629:Stk32b UTSW 5 37,614,576 (GRCm39) missense probably damaging 1.00
R6042:Stk32b UTSW 5 37,806,458 (GRCm39) missense probably damaging 0.99
R6610:Stk32b UTSW 5 37,606,022 (GRCm39) missense probably benign 0.04
R6864:Stk32b UTSW 5 37,606,149 (GRCm39) splice site probably null
R6879:Stk32b UTSW 5 37,647,867 (GRCm39) missense possibly damaging 0.77
R7186:Stk32b UTSW 5 37,624,125 (GRCm39) missense probably damaging 1.00
R8676:Stk32b UTSW 5 37,614,503 (GRCm39) missense probably benign 0.00
R8795:Stk32b UTSW 5 37,806,483 (GRCm39) missense probably damaging 0.98
R8948:Stk32b UTSW 5 37,612,341 (GRCm39) missense possibly damaging 0.87
R9192:Stk32b UTSW 5 37,786,344 (GRCm39) missense probably damaging 1.00
R9776:Stk32b UTSW 5 37,617,001 (GRCm39) missense probably benign
V1024:Stk32b UTSW 5 37,614,578 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGGGTGACAGAGTCCATG -3'
(R):5'- CAGAAGCACATTTGTCTGCAGAC -3'

Sequencing Primer
(F):5'- GAGTGAGTGCACTTATGC -3'
(R):5'- GTCTGCAGACATAATTGCTGAACC -3'
Posted On 2020-07-28