Incidental Mutation 'R4298:Rack1'
ID 323435
Institutional Source Beutler Lab
Gene Symbol Rack1
Ensembl Gene ENSMUSG00000020372
Gene Name receptor for activated C kinase 1
Synonyms GB-like, p205, Gnb2l1, Gnb2-rs1
MMRRC Submission 041086-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R4298 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 48691187-48697068 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 48692453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020640] [ENSMUST00000047145]
AlphaFold P68040
Predicted Effect probably benign
Transcript: ENSMUST00000020640
SMART Domains Protein: ENSMUSP00000020640
Gene: ENSMUSG00000020372

DomainStartEndE-ValueType
WD40 4 44 5.55e-7 SMART
WD40 52 91 6.48e-8 SMART
WD40 94 133 2.95e-11 SMART
WD40 135 178 8.55e-8 SMART
WD40 181 220 2.42e-7 SMART
WD40 223 260 6.34e-2 SMART
WD40 271 311 2.4e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047145
SMART Domains Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365

DomainStartEndE-ValueType
RING 20 186 2.91e-6 SMART
BBOX 222 263 3.31e-10 SMART
coiled coil region 281 313 N/A INTRINSIC
coiled coil region 336 374 N/A INTRINSIC
PRY 430 482 2.04e-19 SMART
Pfam:SPRY 485 629 6.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139959
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
MGI Phenotype PHENOTYPE: Embryos homozygous for a hypomorphic allele lack early egg cylinders and die at gastrulation. Heterozygotes show a transient growth deficit, a white belly spot and hypopigmented tail and paws, while embryonic fibroblasts show a reduction in PMA- and insulin-stimulated translation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Ccser2 T A 14: 36,612,337 (GRCm39) Q158L possibly damaging Het
Cct7 T A 6: 85,445,155 (GRCm39) C469S probably damaging Het
Chmp7 A T 14: 69,956,650 (GRCm39) probably null Het
Clcn4 C T 7: 7,299,737 (GRCm39) D31N possibly damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctdp1 A T 18: 80,493,172 (GRCm39) V441E probably benign Het
Cyp4a10 T C 4: 115,389,889 (GRCm39) L498P probably damaging Het
Dsc3 A T 18: 20,113,811 (GRCm39) N370K possibly damaging Het
Dusp12 G A 1: 170,708,198 (GRCm39) T173M probably benign Het
Ebf3 C T 7: 136,826,958 (GRCm39) R318Q possibly damaging Het
Epcam T C 17: 87,947,962 (GRCm39) probably null Het
Erich6 G T 3: 58,531,712 (GRCm39) A428D probably benign Het
Ext1 A T 15: 53,208,521 (GRCm39) I80N probably benign Het
Extl1 T C 4: 134,084,969 (GRCm39) E667G probably damaging Het
F2 T G 2: 91,459,665 (GRCm39) probably null Het
Fbxw16 T C 9: 109,275,625 (GRCm39) I135V probably benign Het
Glipr1l1 A T 10: 111,898,252 (GRCm39) D119V probably benign Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Lmbrd2 G A 15: 9,165,882 (GRCm39) R252H possibly damaging Het
Lyst A G 13: 13,809,472 (GRCm39) T381A probably damaging Het
Mcpt4 A T 14: 56,298,444 (GRCm39) V97D possibly damaging Het
Nefh A G 11: 4,890,066 (GRCm39) I851T probably benign Het
Nf1 A T 11: 79,275,070 (GRCm39) I44F probably damaging Het
Nyap2 A T 1: 81,218,811 (GRCm39) I278F probably damaging Het
Or4c52 A T 2: 89,845,993 (GRCm39) T240S probably benign Het
Or4f7d-ps1 G T 2: 111,674,789 (GRCm39) noncoding transcript Het
Pdcd4 C A 19: 53,908,092 (GRCm39) P201Q probably damaging Het
Pramel16 A T 4: 143,675,713 (GRCm39) L371* probably null Het
Prdm11 T C 2: 92,823,728 (GRCm39) T179A probably benign Het
Qrfpr T A 3: 36,243,703 (GRCm39) I133F probably damaging Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sag G C 1: 87,772,737 (GRCm39) D402H probably benign Het
Sbk3 T A 7: 4,972,979 (GRCm39) T64S probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3gl1 C T 17: 56,326,173 (GRCm39) G111D probably damaging Het
Spata20 G A 11: 94,373,914 (GRCm39) R379W probably damaging Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Stk39 C T 2: 68,221,284 (GRCm39) G213D probably damaging Het
Szt2 A G 4: 118,222,603 (GRCm39) probably benign Het
Taf1d T C 9: 15,219,939 (GRCm39) S63P probably damaging Het
Tnfrsf13b C G 11: 61,031,643 (GRCm39) probably null Het
Ttn G T 2: 76,554,394 (GRCm39) A30807D probably damaging Het
Unc119 A G 11: 78,238,948 (GRCm39) N158S probably damaging Het
Vmn2r116 T A 17: 23,620,801 (GRCm39) I845N possibly damaging Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Zdhhc4 A G 5: 143,309,997 (GRCm39) V87A probably damaging Het
Zwilch A G 9: 64,062,444 (GRCm39) probably null Het
Other mutations in Rack1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02524:Rack1 APN 11 48,694,298 (GRCm39) missense probably benign 0.14
IGL02673:Rack1 APN 11 48,691,357 (GRCm39) missense probably benign 0.01
R0630:Rack1 UTSW 11 48,694,804 (GRCm39) unclassified probably benign
R1465:Rack1 UTSW 11 48,692,586 (GRCm39) missense probably damaging 0.97
R1465:Rack1 UTSW 11 48,692,586 (GRCm39) missense probably damaging 0.97
R3824:Rack1 UTSW 11 48,693,131 (GRCm39) missense probably benign
R3825:Rack1 UTSW 11 48,693,131 (GRCm39) missense probably benign
R4885:Rack1 UTSW 11 48,696,463 (GRCm39) missense probably damaging 1.00
R6935:Rack1 UTSW 11 48,694,322 (GRCm39) missense probably damaging 0.97
R6997:Rack1 UTSW 11 48,694,752 (GRCm39) missense probably damaging 1.00
R7015:Rack1 UTSW 11 48,692,592 (GRCm39) missense probably benign 0.39
R8765:Rack1 UTSW 11 48,694,286 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- GTGGAACTTAAGTCTCAATCCCAG -3'
(R):5'- AAGATTCCAAAGCAGCTACTTGC -3'

Sequencing Primer
(F):5'- TCTCAATCCCAGGAAGTGTGG -3'
(R):5'- CTACTTGCGTTGTGAGATCCCAG -3'
Posted On 2015-06-20