Incidental Mutation 'R8252:Sik2'
ID 640188
Institutional Source Beutler Lab
Gene Symbol Sik2
Ensembl Gene ENSMUSG00000037112
Gene Name salt inducible kinase 2
Synonyms G630080D20Rik, Snf1lk2
MMRRC Submission 067678-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.719) question?
Stock # R8252 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 50804101-50920373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50828415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 209 (V209A)
Ref Sequence ENSEMBL: ENSMUSP00000038761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041375] [ENSMUST00000176491] [ENSMUST00000176663] [ENSMUST00000176824]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000041375
AA Change: V209A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: V209A

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 possibly damaging
Transcript: ENSMUST00000176491
AA Change: V209A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: V209A

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 possibly damaging
Transcript: ENSMUST00000176663
AA Change: V209A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: V209A

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 possibly damaging
Transcript: ENSMUST00000176824
AA Change: V209A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: V209A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,861,284 (GRCm39) probably benign Het
Ano4 A G 10: 88,816,881 (GRCm39) I644T probably damaging Het
Arhgap18 T A 10: 26,730,932 (GRCm39) D203E probably benign Het
Ascc3 T A 10: 50,518,706 (GRCm39) M337K probably benign Het
Atg13 G C 2: 91,510,699 (GRCm39) P343A probably benign Het
Cacna1c C T 6: 118,634,335 (GRCm39) V1058I Het
Cd180 A G 13: 102,842,504 (GRCm39) T517A probably benign Het
Cd1d2 A C 3: 86,894,375 (GRCm39) I48L probably benign Het
Cdh19 C T 1: 110,817,615 (GRCm39) C709Y probably benign Het
Chst10 T C 1: 38,923,433 (GRCm39) D51G probably benign Het
Clec2g G A 6: 128,958,335 (GRCm39) E184K probably benign Het
Col19a1 T A 1: 24,319,048 (GRCm39) H1014L probably benign Het
Fam135b T A 15: 71,404,872 (GRCm39) H58L probably benign Het
Fam171b A G 2: 83,708,586 (GRCm39) I363V probably benign Het
Hecw1 C A 13: 14,515,425 (GRCm39) G236W probably damaging Het
Htra3 A G 5: 35,810,305 (GRCm39) M459T probably benign Het
Iglc2 A T 16: 19,017,520 (GRCm39) C27* probably null Het
Il36b A T 2: 24,048,825 (GRCm39) T77S possibly damaging Het
Kif1b A T 4: 149,358,262 (GRCm39) N135K probably damaging Het
Krt5 A T 15: 101,620,794 (GRCm39) I151N probably damaging Het
Lama4 A T 10: 38,936,142 (GRCm39) M606L probably benign Het
Lgr6 T A 1: 134,931,215 (GRCm39) S280C probably null Het
Msh3 T A 13: 92,357,569 (GRCm39) T967S probably damaging Het
Ndufb4 T C 16: 37,474,637 (GRCm39) T29A probably benign Het
Nfe2l1 T C 11: 96,710,058 (GRCm39) M724V probably benign Het
Nudt12 T C 17: 59,318,089 (GRCm39) Y52C probably damaging Het
Nutm1 G T 2: 112,082,174 (GRCm39) Q301K probably damaging Het
Or2t46 T A 11: 58,471,958 (GRCm39) I96N probably damaging Het
Or4c102 A G 2: 88,423,011 (GRCm39) R288G probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Or6e1 T A 14: 54,519,704 (GRCm39) Y216F possibly damaging Het
Pcdh9 T C 14: 94,126,086 (GRCm39) Y28C probably damaging Het
Pcdha11 G C 18: 37,140,590 (GRCm39) V740L possibly damaging Het
Pkd1l2 T C 8: 117,767,472 (GRCm39) T1273A probably benign Het
Pla2g4a T C 1: 149,727,058 (GRCm39) D574G probably damaging Het
Prrc2b A T 2: 32,109,392 (GRCm39) Q1719L possibly damaging Het
Psap A G 10: 60,113,511 (GRCm39) probably benign Het
Pwwp3a A G 10: 80,077,694 (GRCm39) I656V probably benign Het
Rab11fip2 C T 19: 59,925,422 (GRCm39) S265N probably benign Het
Rnf10 A T 5: 115,398,373 (GRCm39) D53E probably benign Het
Scgb2b11 T C 7: 31,908,764 (GRCm39) E112G probably benign Het
Scml4 T C 10: 42,800,100 (GRCm39) Y85H noncoding transcript Het
Setd5 T A 6: 113,127,916 (GRCm39) Y1290N probably benign Het
Sgk1 T A 10: 21,873,298 (GRCm39) C375S probably damaging Het
Sipa1l2 A T 8: 126,195,410 (GRCm39) V776D probably damaging Het
Slamf1 T A 1: 171,594,796 (GRCm39) M1K probably null Het
Slc26a7 T C 4: 14,621,415 (GRCm39) probably benign Het
Spg11 G T 2: 121,918,820 (GRCm39) probably benign Het
Sry C A Y: 2,663,298 (GRCm39) A121S possibly damaging Het
Sspo C T 6: 48,462,386 (GRCm39) T3719I probably damaging Het
Tcap T C 11: 98,275,171 (GRCm39) S102P probably benign Het
Thap7 T C 16: 17,346,486 (GRCm39) R166G probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Trim8 A G 19: 46,504,059 (GRCm39) Y537C probably damaging Het
Ubr4 T A 4: 139,200,528 (GRCm39) M4692K unknown Het
Uvssa A G 5: 33,549,523 (GRCm39) S395G probably benign Het
Vgll4 G T 6: 114,867,695 (GRCm39) T52K probably damaging Het
Vmn2r7 A G 3: 64,600,527 (GRCm39) L548P probably benign Het
Vmn2r92 T A 17: 18,387,134 (GRCm39) S158T probably damaging Het
Wdr70 A T 15: 8,072,337 (GRCm39) probably benign Het
Zbtb48 A T 4: 152,105,344 (GRCm39) C463S 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
R2032:Sik2 UTSW 9 50,906,947 (GRCm39) missense probably damaging 1.00
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
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'- CAGAGCTCCATGGCTTTTAAAATG -3'
(R):5'- CACCACAGGAAGTAAGACTTTCAG -3'

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