Incidental Mutation 'R2032:Sik2'
ID 221372
Institutional Source Beutler Lab
Gene Symbol Sik2
Ensembl Gene ENSMUSG00000037112
Gene Name salt inducible kinase 2
Synonyms G630080D20Rik, Snf1lk2
MMRRC Submission 040039-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.719) question?
Stock # R2032 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 50804101-50920373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50906947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 93 (Y93N)
Ref Sequence ENSEMBL: ENSMUSP00000134936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041375] [ENSMUST00000176491] [ENSMUST00000176663] [ENSMUST00000176824]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041375
AA Change: Y93N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: Y93N

DomainStartEndE-ValueType
S_TKc 20 271 4.63e-101 SMART
low complexity region 454 464 N/A INTRINSIC
low complexity region 643 664 N/A INTRINSIC
low complexity region 708 731 N/A INTRINSIC
low complexity region 800 842 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176327
Predicted Effect probably damaging
Transcript: ENSMUST00000176491
AA Change: Y93N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: Y93N

DomainStartEndE-ValueType
S_TKc 20 271 4.63e-101 SMART
low complexity region 454 464 N/A INTRINSIC
low complexity region 643 664 N/A INTRINSIC
low complexity region 708 731 N/A INTRINSIC
low complexity region 800 842 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176663
AA Change: Y93N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: Y93N

DomainStartEndE-ValueType
S_TKc 20 271 4.63e-101 SMART
low complexity region 454 464 N/A INTRINSIC
low complexity region 643 664 N/A INTRINSIC
low complexity region 708 731 N/A INTRINSIC
low complexity region 800 842 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176824
AA Change: Y93N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: Y93N

DomainStartEndE-ValueType
S_TKc 20 271 4.63e-101 SMART
low complexity region 454 464 N/A INTRINSIC
low complexity region 643 664 N/A INTRINSIC
low complexity region 708 731 N/A INTRINSIC
low complexity region 800 842 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177203
Meta Mutation Damage Score 0.9512 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
MGI Phenotype PHENOTYPE: Mice heterozygous for a knock-out allele exhibit darkened hair color in an agouti background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,585,056 (GRCm39) probably benign Het
Abca7 C T 10: 79,844,071 (GRCm39) T1359M probably damaging Het
Acox2 A G 14: 8,246,400 (GRCm38) S464P probably benign Het
Adgrf1 C T 17: 43,622,166 (GRCm39) T801I probably damaging Het
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Akap12 C A 10: 4,306,673 (GRCm39) A1161D possibly damaging Het
Ankrd36 T A 11: 5,578,616 (GRCm39) V635D possibly damaging Het
Ankrd44 C T 1: 54,762,168 (GRCm39) probably null Het
Atl2 A G 17: 80,203,373 (GRCm39) V28A probably benign Het
Atxn3 A T 12: 101,908,453 (GRCm39) L133* probably null Het
Bmp2 T C 2: 133,403,216 (GRCm39) S256P probably benign Het
Ccdc121rt3 G A 5: 112,502,978 (GRCm39) T242I possibly damaging Het
Ccdc138 T A 10: 58,348,984 (GRCm39) Y177N possibly damaging Het
Ccdc168 C A 1: 44,100,900 (GRCm39) C66F possibly damaging Het
Cdcp3 G A 7: 130,844,781 (GRCm39) G674E probably damaging Het
Cep164 C T 9: 45,682,898 (GRCm39) V931M probably damaging Het
Cfhr4 T A 1: 139,660,993 (GRCm39) probably benign Het
CK137956 T C 4: 127,839,069 (GRCm39) T450A probably benign Het
Col23a1 G A 11: 51,450,835 (GRCm39) G215D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd6a T C 14: 26,325,904 (GRCm39) M5T probably benign Het
Dnajc6 T G 4: 101,471,435 (GRCm39) I284S probably benign Het
Dolpp1 C T 2: 30,282,453 (GRCm39) A2V probably damaging Het
Eml2 C T 7: 18,936,480 (GRCm39) T711I probably benign Het
Evi5l T C 8: 4,260,622 (GRCm39) D1065G probably damaging Het
Fam110b G T 4: 5,799,460 (GRCm39) A293S probably benign Het
Fap A G 2: 62,372,581 (GRCm39) V266A probably benign Het
Fgf10 A T 13: 118,852,131 (GRCm39) Y71F probably damaging Het
Gm3443 G T 19: 21,533,164 (GRCm39) G43C probably damaging Het
Gpr146 T C 5: 139,364,902 (GRCm39) probably benign Het
Hif3a A T 7: 16,785,104 (GRCm39) L172H probably damaging Het
Mas1 T C 17: 13,061,457 (GRCm39) probably benign Het
Nlrp5 G A 7: 23,120,937 (GRCm39) R717Q probably damaging Het
Nop14 A G 5: 34,817,283 (GRCm39) V36A possibly damaging Het
Or10v5 C T 19: 11,805,664 (GRCm39) C242Y probably damaging Het
Or51a39 A T 7: 102,363,083 (GRCm39) I179N probably benign Het
Or7a41 T A 10: 78,871,163 (GRCm39) F178I possibly damaging Het
Parp4 T A 14: 56,866,553 (GRCm39) I1039K possibly damaging Het
Pate12 T C 9: 36,344,195 (GRCm39) probably null Het
Pold2 A T 11: 5,826,757 (GRCm39) I59N probably benign Het
Prr36 T C 8: 4,264,304 (GRCm39) probably benign Het
Pyroxd2 T C 19: 42,716,088 (GRCm39) probably benign Het
Recql C T 6: 142,313,009 (GRCm39) G403R probably damaging Het
Serpina3m T A 12: 104,355,928 (GRCm39) D198E probably benign Het
Slc27a3 C T 3: 90,294,704 (GRCm39) R389H probably damaging Het
Slc29a1 A T 17: 45,897,035 (GRCm39) M417K probably damaging Het
Syt13 A G 2: 92,783,746 (GRCm39) K339E probably damaging Het
Tmem237 A T 1: 59,148,265 (GRCm39) H163Q probably benign Het
Tram2 C T 1: 21,074,180 (GRCm39) G253R probably null Het
Trpv1 A G 11: 73,129,211 (GRCm39) T43A probably benign Het
Ugt2b34 A G 5: 87,039,131 (GRCm39) I510T probably damaging Het
Vmn1r224 C A 17: 20,639,658 (GRCm39) D78E probably benign Het
Vmn1r78 A T 7: 11,887,210 (GRCm39) I274L probably benign Het
Wdfy4 C T 14: 32,868,946 (GRCm39) V361I probably benign Het
Zpbp2 A T 11: 98,445,534 (GRCm39) K165N probably damaging Het
Other mutations in Sik2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Sik2 APN 9 50,818,763 (GRCm39) missense probably damaging 0.96
IGL01552:Sik2 APN 9 50,828,822 (GRCm39) splice site probably benign
IGL02175:Sik2 APN 9 50,806,909 (GRCm39) nonsense probably null
IGL02355:Sik2 APN 9 50,828,903 (GRCm39) nonsense probably null
IGL02362:Sik2 APN 9 50,828,903 (GRCm39) nonsense probably null
IGL03197:Sik2 APN 9 50,807,073 (GRCm39) missense probably damaging 1.00
R0066:Sik2 UTSW 9 50,909,833 (GRCm39) missense probably benign 0.18
R0066:Sik2 UTSW 9 50,909,833 (GRCm39) missense probably benign 0.18
R0109:Sik2 UTSW 9 50,810,775 (GRCm39) missense possibly damaging 0.50
R0109:Sik2 UTSW 9 50,810,775 (GRCm39) missense possibly damaging 0.50
R0416:Sik2 UTSW 9 50,906,932 (GRCm39) missense probably damaging 1.00
R0648:Sik2 UTSW 9 50,810,045 (GRCm39) missense probably benign 0.26
R0714:Sik2 UTSW 9 50,818,736 (GRCm39) missense probably benign 0.13
R1472:Sik2 UTSW 9 50,920,111 (GRCm39) missense probably damaging 1.00
R1592:Sik2 UTSW 9 50,906,971 (GRCm39) missense probably damaging 1.00
R1899:Sik2 UTSW 9 50,906,974 (GRCm39) splice site probably benign
R2079:Sik2 UTSW 9 50,818,706 (GRCm39) critical splice donor site probably null
R2853:Sik2 UTSW 9 50,809,597 (GRCm39) missense probably damaging 1.00
R4085:Sik2 UTSW 9 50,846,685 (GRCm39) intron probably benign
R4567:Sik2 UTSW 9 50,909,876 (GRCm39) missense probably damaging 1.00
R5098:Sik2 UTSW 9 50,906,891 (GRCm39) intron probably benign
R5176:Sik2 UTSW 9 50,810,703 (GRCm39) missense probably benign 0.02
R5640:Sik2 UTSW 9 50,826,806 (GRCm39) missense possibly damaging 0.93
R5682:Sik2 UTSW 9 50,828,382 (GRCm39) missense probably damaging 1.00
R5779:Sik2 UTSW 9 50,807,145 (GRCm39) missense probably benign
R5935:Sik2 UTSW 9 50,828,431 (GRCm39) missense probably damaging 1.00
R5997:Sik2 UTSW 9 50,806,642 (GRCm39) critical splice donor site probably null
R6664:Sik2 UTSW 9 50,846,757 (GRCm39) missense probably damaging 1.00
R6787:Sik2 UTSW 9 50,909,834 (GRCm39) missense possibly damaging 0.67
R6980:Sik2 UTSW 9 50,808,755 (GRCm39) missense probably benign 0.00
R7057:Sik2 UTSW 9 50,909,861 (GRCm39) missense probably damaging 1.00
R7064:Sik2 UTSW 9 50,818,720 (GRCm39) missense probably damaging 0.99
R7165:Sik2 UTSW 9 50,828,397 (GRCm39) missense probably damaging 1.00
R7892:Sik2 UTSW 9 50,920,132 (GRCm39) missense probably damaging 0.98
R8252:Sik2 UTSW 9 50,828,415 (GRCm39) missense possibly damaging 0.89
R8893:Sik2 UTSW 9 50,810,026 (GRCm39) missense probably damaging 1.00
R8987:Sik2 UTSW 9 50,806,647 (GRCm39) missense probably benign
R9747:Sik2 UTSW 9 50,810,058 (GRCm39) missense possibly damaging 0.95
R9753:Sik2 UTSW 9 50,807,139 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AAGGTGGCAAGTTTCTCCCTATC -3'
(R):5'- TCCACGAGTGTATACCAAAGCTTG -3'

Sequencing Primer
(F):5'- GCTATCTAGTCTCTAATGCAAGTAAG -3'
(R):5'- CGAGTGTATACCAAAGCTTGTAAATG -3'
Posted On 2014-08-25