Incidental Mutation 'R6935:Rack1'
ID 540259
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 045008-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6935 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 48691187-48697068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48694322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 174 (V174A)
Ref Sequence ENSEMBL: ENSMUSP00000020640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020640] [ENSMUST00000047145] [ENSMUST00000131888]
AlphaFold P68040
Predicted Effect probably damaging
Transcript: ENSMUST00000020640
AA Change: V174A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020640
Gene: ENSMUSG00000020372
AA Change: V174A

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 probably benign
Transcript: ENSMUST00000131888
SMART Domains Protein: ENSMUSP00000119707
Gene: ENSMUSG00000040365

DomainStartEndE-ValueType
Pfam:DUF3631 9 124 9.4e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 98% (41/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T A 14: 35,533,864 (GRCm39) H14L probably benign Het
Adar A G 3: 89,654,525 (GRCm39) N368D probably benign Het
Adcy10 T C 1: 165,334,204 (GRCm39) V71A probably benign Het
Ank1 C T 8: 23,598,247 (GRCm39) T755I probably damaging Het
Aoc1 A T 6: 48,885,161 (GRCm39) Y632F probably damaging Het
Bbc3 A G 7: 16,046,124 (GRCm39) D20G possibly damaging Het
Bche T G 3: 73,609,133 (GRCm39) I98L probably benign Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Col12a1 A G 9: 79,607,782 (GRCm39) Y349H possibly damaging Het
Crip2 T C 12: 113,104,213 (GRCm39) C8R probably damaging Het
Dhx58 T A 11: 100,589,232 (GRCm39) probably null Het
Dnah2 G A 11: 69,312,567 (GRCm39) R4333C probably damaging Het
Dnajb12 T C 10: 59,732,325 (GRCm39) probably null Het
Dzank1 T C 2: 144,318,014 (GRCm39) E718G possibly damaging Het
Erfl C A 7: 24,627,986 (GRCm39) G181V possibly damaging Het
Fbxo28 C T 1: 182,169,025 (GRCm39) G38R unknown Het
Foxb2 A G 19: 16,849,983 (GRCm39) F341S probably benign Het
Gabrb3 T A 7: 57,241,561 (GRCm39) I29N probably damaging Het
Gm7298 G A 6: 121,744,653 (GRCm39) R557H probably benign Het
Itih3 T A 14: 30,634,659 (GRCm39) Q116L possibly damaging Het
Lingo1 T C 9: 56,527,149 (GRCm39) Y480C probably damaging Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Mbd5 A G 2: 49,169,824 (GRCm39) Y113C probably damaging Het
Mcm3ap C T 10: 76,340,087 (GRCm39) P1453S possibly damaging Het
Mdn1 T G 4: 32,774,041 (GRCm39) F5551V possibly damaging Het
Myo16 T A 8: 10,619,820 (GRCm39) M1457K probably benign Het
Nbeal2 T A 9: 110,468,459 (GRCm39) E372V probably damaging Het
Ncam2 T A 16: 81,323,879 (GRCm39) S508T probably benign Het
Nebl A T 2: 17,353,637 (GRCm39) D971E probably damaging Het
Nlrp10 A T 7: 108,526,107 (GRCm39) M77K probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or2y1d A G 11: 49,321,825 (GRCm39) N174S probably damaging Het
Or52ad1 A T 7: 102,996,002 (GRCm39) N44K probably damaging Het
Or8c18 G T 9: 38,203,413 (GRCm39) M57I probably benign Het
Pidd1 A T 7: 141,020,215 (GRCm39) D570E probably damaging Het
Ppfia3 T C 7: 45,001,631 (GRCm39) D427G possibly damaging Het
Prex1 T C 2: 166,441,575 (GRCm39) Y364C probably damaging Het
Prlr A G 15: 10,319,388 (GRCm39) S142G probably damaging Het
Rhbdl3 C T 11: 80,228,322 (GRCm39) A264V probably damaging Het
Sh3bp5 T A 14: 31,101,473 (GRCm39) M170L probably damaging Het
Skint5 A T 4: 113,799,793 (GRCm39) F125L possibly damaging Het
Slc6a4 T C 11: 76,917,994 (GRCm39) Y579H probably benign Het
Tmem106b A T 6: 13,081,554 (GRCm39) T154S possibly damaging Het
Xrcc5 A G 1: 72,382,189 (GRCm39) D455G possibly damaging 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
R4298:Rack1 UTSW 11 48,692,453 (GRCm39) unclassified probably benign
R4885:Rack1 UTSW 11 48,696,463 (GRCm39) missense probably damaging 1.00
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'- GTGGAAGACTGCTGTTGTCC -3'
(R):5'- TGTGCTTGGATGACACAGGTC -3'

Sequencing Primer
(F):5'- GAAGACTGCTGTTGTCCCACCTAG -3'
(R):5'- GGGATACAGAATGAATCCTAGCCTC -3'
Posted On 2018-11-06