Incidental Mutation 'R1168:Ryk'
ID 101340
Institutional Source Beutler Lab
Gene Symbol Ryk
Ensembl Gene ENSMUSG00000032547
Gene Name receptor-like tyrosine kinase
Synonyms Vik, ERK-3
MMRRC Submission 039241-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1168 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 102712119-102785506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102775674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 428 (D428V)
Ref Sequence ENSEMBL: ENSMUSP00000135858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035142] [ENSMUST00000175883] [ENSMUST00000176198]
AlphaFold Q01887
Predicted Effect probably damaging
Transcript: ENSMUST00000035142
AA Change: D425V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035142
Gene: ENSMUSG00000032547
AA Change: D425V

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
WIF 47 180 9.24e-82 SMART
transmembrane domain 212 234 N/A INTRINSIC
low complexity region 247 266 N/A INTRINSIC
TyrKc 314 580 1.76e-115 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000175883
AA Change: D428V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135858
Gene: ENSMUSG00000032547
AA Change: D428V

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
WIF 47 180 9.24e-82 SMART
transmembrane domain 212 234 N/A INTRINSIC
low complexity region 247 266 N/A INTRINSIC
TyrKc 317 583 1.76e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176198
SMART Domains Protein: ENSMUSP00000135396
Gene: ENSMUSG00000032547

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177274
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice have a distinctive craniofacial appearance, shortened limbs and postnatal mortality due to feeding and respiratory complications associated with a complete cleft of the secondary palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,773,661 (GRCm39) V950A probably benign Het
Adgrb3 A T 1: 25,865,280 (GRCm39) S188T probably benign Het
Ahr A T 12: 35,554,531 (GRCm39) N529K possibly damaging Het
Akr1c21 A G 13: 4,633,836 (GRCm39) N302D probably benign Het
Aldh8a1 T A 10: 21,260,530 (GRCm39) probably null Het
Alpk3 A T 7: 80,753,105 (GRCm39) K1554M probably damaging Het
Arhgef5 T A 6: 43,250,330 (GRCm39) H360Q probably benign Het
Cacna1a A G 8: 85,306,130 (GRCm39) I1293V probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cd200r4 T A 16: 44,653,307 (GRCm39) W72R probably damaging Het
Ces2e A T 8: 105,653,646 (GRCm39) D28V possibly damaging Het
Cfap20dc T C 14: 8,442,939 (GRCm38) N610S probably benign Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cfap54 A T 10: 92,773,782 (GRCm39) C87S probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Chrna4 T A 2: 180,675,931 (GRCm39) M67L possibly damaging Het
Cplx3 G A 9: 57,515,595 (GRCm39) R427C probably benign Het
Cts7 T A 13: 61,501,631 (GRCm39) N290Y probably damaging Het
Enpp6 A T 8: 47,483,489 (GRCm39) M94L probably damaging Het
Fam83d C T 2: 158,610,443 (GRCm39) A137V probably benign Het
Foxd2 C T 4: 114,764,875 (GRCm39) A382T possibly damaging Het
Galnt11 T G 5: 25,455,244 (GRCm39) S193R probably damaging Het
Gapvd1 A T 2: 34,594,481 (GRCm39) D856E probably damaging Het
Gclm T A 3: 122,056,337 (GRCm39) H86Q possibly damaging Het
Gipc2 T C 3: 151,813,634 (GRCm39) T220A probably benign Het
Gm12185 G T 11: 48,806,182 (GRCm39) N336K possibly damaging Het
Gm5431 A T 11: 48,786,191 (GRCm39) S61R probably benign Het
Gorasp2 C T 2: 70,518,744 (GRCm39) P260S probably damaging Het
H2-M10.6 A G 17: 37,124,052 (GRCm39) Q172R probably benign Het
Ibsp A G 5: 104,450,018 (GRCm39) I6V probably damaging Het
Iqsec1 T C 6: 90,666,658 (GRCm39) Y593C probably damaging Het
Irag1 T C 7: 110,495,138 (GRCm39) K429R probably damaging Het
Itln1 G T 1: 171,359,119 (GRCm39) Y61* probably null Het
Kif21a G A 15: 90,877,956 (GRCm39) T284I probably damaging Het
Kif3a G A 11: 53,489,139 (GRCm39) G621R probably damaging Het
Klb A G 5: 65,536,317 (GRCm39) Y549C probably damaging Het
Lrrc37 T C 11: 103,509,776 (GRCm39) probably benign Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mastl A T 2: 23,023,144 (GRCm39) D526E probably benign Het
Mtif2 A G 11: 29,486,914 (GRCm39) D308G probably benign Het
Ncald A G 15: 37,397,578 (GRCm39) F34S probably damaging Het
Ndc1 A G 4: 107,253,009 (GRCm39) T593A probably benign Het
Ndst3 C T 3: 123,400,617 (GRCm39) V15I probably benign Het
Nup214 A G 2: 31,915,313 (GRCm39) N1166D probably benign Het
Or1a1 A G 11: 74,087,247 (GRCm39) H306R probably benign Het
Or2ad1 A G 13: 21,326,787 (GRCm39) S147P probably benign Het
Or4a68 G A 2: 89,270,213 (GRCm39) Q137* probably null Het
Or5m8 A T 2: 85,823,028 (GRCm39) Y289F probably damaging Het
Pcdhb8 T C 18: 37,489,780 (GRCm39) I486T probably benign Het
Pdzrn4 A T 15: 92,668,152 (GRCm39) Y768F probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Plcl2 G A 17: 50,914,100 (GRCm39) A370T possibly damaging Het
Pnkp T A 7: 44,511,961 (GRCm39) W115R probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prag1 A G 8: 36,613,799 (GRCm39) E1117G probably damaging Het
Prr12 T A 7: 44,678,471 (GRCm39) Q1919L unknown Het
Ret G T 6: 118,150,519 (GRCm39) H666N possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Robo2 C T 16: 73,745,184 (GRCm39) G864S probably damaging Het
Rpa2 T G 4: 132,499,171 (GRCm39) I80S probably damaging Het
Slc29a1 A T 17: 45,901,204 (GRCm39) N30K probably damaging Het
Stbd1 A G 5: 92,752,795 (GRCm39) N95S probably benign Het
Tbc1d22a A G 15: 86,176,335 (GRCm39) E212G probably benign Het
Tex14 A G 11: 87,427,568 (GRCm39) T7A probably benign Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmem132b G T 5: 125,864,083 (GRCm39) V730F probably damaging Het
Tmub2 G A 11: 102,178,196 (GRCm39) G33D possibly damaging Het
Trak1 G A 9: 121,269,745 (GRCm39) D124N probably damaging Het
Ttc28 A T 5: 111,378,977 (GRCm39) Y1154F probably damaging Het
Ttn T C 2: 76,739,713 (GRCm39) T3609A probably benign Het
Tulp2 A G 7: 45,167,266 (GRCm39) T99A probably benign Het
Ugt2a2 A T 5: 87,613,427 (GRCm39) probably null Het
Ush2a G A 1: 188,410,608 (GRCm39) V2419I probably benign Het
Vill C A 9: 118,899,389 (GRCm39) P343Q probably damaging Het
Vmn2r66 T A 7: 84,656,062 (GRCm39) H318L possibly damaging Het
Wdr3 A C 3: 100,049,535 (GRCm39) N800K probably benign Het
Wdr93 A G 7: 79,398,922 (GRCm39) K19E probably damaging Het
Wrn A G 8: 33,806,436 (GRCm39) S333P probably damaging Het
Zfp418 T C 7: 7,185,500 (GRCm39) S488P possibly damaging Het
Zfp804a A G 2: 82,087,041 (GRCm39) E290G probably benign Het
Other mutations in Ryk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Ryk APN 9 102,774,465 (GRCm39) missense probably benign 0.38
R1827:Ryk UTSW 9 102,765,706 (GRCm39) missense probably benign 0.03
R2030:Ryk UTSW 9 102,758,855 (GRCm39) missense possibly damaging 0.90
R2084:Ryk UTSW 9 102,752,971 (GRCm39) missense probably damaging 1.00
R3870:Ryk UTSW 9 102,768,427 (GRCm39) missense probably damaging 0.96
R4675:Ryk UTSW 9 102,768,415 (GRCm39) missense possibly damaging 0.94
R5195:Ryk UTSW 9 102,744,812 (GRCm39) missense probably benign 0.00
R5338:Ryk UTSW 9 102,774,516 (GRCm39) nonsense probably null
R5469:Ryk UTSW 9 102,784,153 (GRCm39) missense possibly damaging 0.76
R6668:Ryk UTSW 9 102,746,475 (GRCm39) missense possibly damaging 0.75
R7340:Ryk UTSW 9 102,775,737 (GRCm39) missense probably damaging 0.99
R7545:Ryk UTSW 9 102,765,672 (GRCm39) missense probably damaging 1.00
R7602:Ryk UTSW 9 102,775,715 (GRCm39) missense probably damaging 1.00
R7694:Ryk UTSW 9 102,775,979 (GRCm39) missense probably damaging 1.00
R7817:Ryk UTSW 9 102,768,432 (GRCm39) nonsense probably null
R8973:Ryk UTSW 9 102,739,120 (GRCm39) missense possibly damaging 0.56
R9048:Ryk UTSW 9 102,774,468 (GRCm39) missense probably benign 0.04
R9198:Ryk UTSW 9 102,758,854 (GRCm39) missense possibly damaging 0.77
R9529:Ryk UTSW 9 102,746,518 (GRCm39) missense probably benign 0.00
X0020:Ryk UTSW 9 102,758,942 (GRCm39) missense probably damaging 0.96
X0066:Ryk UTSW 9 102,746,609 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2014-01-15