Incidental Mutation 'R6437:Snrk'
ID 518825
Institutional Source Beutler Lab
Gene Symbol Snrk
Ensembl Gene ENSMUSG00000038145
Gene Name SNF related kinase
Synonyms SNRK, 2010012F07Rik
MMRRC Submission 044575-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # R6437 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 121946332-121998768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121995879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 553 (R553G)
Ref Sequence ENSEMBL: ENSMUSP00000112919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118886] [ENSMUST00000120173] [ENSMUST00000134949]
AlphaFold Q8VDU5
Predicted Effect probably damaging
Transcript: ENSMUST00000118886
AA Change: R553G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
AA Change: R553G

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000120173
AA Change: R553G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
AA Change: R553G

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131169
Predicted Effect probably benign
Transcript: ENSMUST00000134949
SMART Domains Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 409 1e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217631
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with enlarged left ventricle and altered lipid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,582,347 (GRCm39) V794E probably damaging Het
Agrn C T 4: 156,261,235 (GRCm39) V514I probably damaging Het
Atg16l1 T C 1: 87,718,370 (GRCm39) L545P probably damaging Het
Ces3b T A 8: 105,819,238 (GRCm39) D431E probably damaging Het
Cracr2a A G 6: 127,608,794 (GRCm39) D291G probably damaging Het
Csmd2 T G 4: 127,881,893 (GRCm39) C11G probably benign Het
Cstdc3 A G 16: 36,132,999 (GRCm39) E92G probably damaging Het
Dido1 A G 2: 180,316,806 (GRCm39) I127T probably damaging Het
Dpp8 A T 9: 64,981,860 (GRCm39) Y714F probably benign Het
Efcab5 G A 11: 77,028,728 (GRCm39) A201V probably benign Het
Eif3h C T 15: 51,662,660 (GRCm39) V129I probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fars2 G A 13: 36,388,846 (GRCm39) V112I probably benign Het
Fbn2 T G 18: 58,246,435 (GRCm39) D489A probably damaging Het
Frmd4b G T 6: 97,273,228 (GRCm39) S675R probably damaging Het
Fsip2 C T 2: 82,813,836 (GRCm39) S3385F possibly damaging Het
Gtpbp10 A G 5: 5,607,406 (GRCm39) Y12H probably damaging Het
Kcng3 A G 17: 83,938,558 (GRCm39) S164P probably damaging Het
Kifap3 T A 1: 163,685,095 (GRCm39) L483Q probably damaging Het
Klk10 A G 7: 43,432,241 (GRCm39) H58R probably benign Het
Kntc1 T G 5: 123,907,754 (GRCm39) W452G probably damaging Het
Krt87 C T 15: 101,336,273 (GRCm39) D127N possibly damaging Het
Ldaf1 A T 7: 119,715,584 (GRCm39) probably null Het
Lipm A G 19: 34,098,657 (GRCm39) Y377C probably damaging Het
Mrc2 G A 11: 105,240,669 (GRCm39) R1453H probably damaging Het
Nat1 T C 8: 67,944,388 (GRCm39) F255L possibly damaging Het
Neb C T 2: 52,147,569 (GRCm39) probably null Het
Nek5 T A 8: 22,575,476 (GRCm39) D491V possibly damaging Het
Nynrin T C 14: 56,109,227 (GRCm39) S1445P probably benign Het
Oog2 T A 4: 143,921,678 (GRCm39) probably null Het
Or2j6 C T 7: 139,980,434 (GRCm39) C175Y probably damaging Het
Pafah1b1 T C 11: 74,568,557 (GRCm39) T391A probably benign Het
Pcdhb7 T C 18: 37,475,743 (GRCm39) L293P probably damaging Het
Plce1 A T 19: 38,513,576 (GRCm39) T292S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rfx7 A G 9: 72,525,768 (GRCm39) Q986R possibly damaging Het
Rrp9 G T 9: 106,360,150 (GRCm39) R186L probably benign Het
Samm50 T A 15: 84,088,298 (GRCm39) probably null Het
Scoc T C 8: 84,164,616 (GRCm39) D7G probably benign Het
Smad9 C T 3: 54,693,505 (GRCm39) P145S probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srcap T A 7: 127,127,722 (GRCm39) probably null Het
Syne2 T A 12: 76,037,188 (GRCm39) V3789E possibly damaging Het
Thsd7b T C 1: 129,744,419 (GRCm39) I769T probably damaging Het
Ttc7 A G 17: 87,637,534 (GRCm39) K430E probably damaging Het
Ubr4 T A 4: 139,124,525 (GRCm39) probably null Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r37 G T 7: 9,220,850 (GRCm39) Q338K probably damaging Het
Yod1 T C 1: 130,646,885 (GRCm39) V254A probably damaging Het
Zfpm2 T C 15: 40,962,793 (GRCm39) S152P probably benign Het
Zmym2 T A 14: 57,140,461 (GRCm39) L100H probably damaging Het
Other mutations in Snrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Snrk APN 9 121,986,326 (GRCm39) missense probably damaging 1.00
saadat UTSW 9 121,995,610 (GRCm39) missense possibly damaging 0.95
R0017:Snrk UTSW 9 121,995,306 (GRCm39) missense probably damaging 1.00
R0564:Snrk UTSW 9 121,995,610 (GRCm39) missense possibly damaging 0.95
R1282:Snrk UTSW 9 121,989,586 (GRCm39) missense possibly damaging 0.77
R3835:Snrk UTSW 9 121,966,069 (GRCm39) start gained probably benign
R5116:Snrk UTSW 9 121,989,396 (GRCm39) missense probably benign 0.01
R5722:Snrk UTSW 9 121,993,072 (GRCm39) missense probably benign 0.00
R5995:Snrk UTSW 9 121,986,288 (GRCm39) missense probably damaging 1.00
R6828:Snrk UTSW 9 121,966,632 (GRCm39) missense probably damaging 1.00
R7432:Snrk UTSW 9 121,986,276 (GRCm39) missense probably damaging 1.00
R7476:Snrk UTSW 9 121,986,288 (GRCm39) missense probably damaging 1.00
R8284:Snrk UTSW 9 121,989,538 (GRCm39) missense probably damaging 1.00
R8779:Snrk UTSW 9 121,995,688 (GRCm39) missense probably damaging 0.99
R8941:Snrk UTSW 9 121,989,597 (GRCm39) missense probably benign 0.00
R9385:Snrk UTSW 9 121,995,463 (GRCm39) missense probably benign 0.27
R9426:Snrk UTSW 9 121,986,326 (GRCm39) missense probably damaging 1.00
R9627:Snrk UTSW 9 121,966,427 (GRCm39) nonsense probably null
R9695:Snrk UTSW 9 121,995,640 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- ACGACGAGTTTGACATGGACG -3'
(R):5'- TTGAGGCTCTGCACAAGCTC -3'

Sequencing Primer
(F):5'- TTTGACATGGACGAGAACCTGC -3'
(R):5'- TTGAGGACCCTGCTGTACC -3'
Posted On 2018-05-24