Incidental Mutation 'R7545:Ryk'
ID 584170
Institutional Source Beutler Lab
Gene Symbol Ryk
Ensembl Gene ENSMUSG00000032547
Gene Name receptor-like tyrosine kinase
Synonyms Vik, ERK-3
MMRRC Submission 045650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 102712119-102785506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102765672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 327 (T327I)
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: T324I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035142
Gene: ENSMUSG00000032547
AA Change: T324I

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: T327I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135858
Gene: ENSMUSG00000032547
AA Change: T327I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,696,040 (GRCm39) Y159H probably damaging Het
A1cf A T 19: 31,912,190 (GRCm39) N435I possibly damaging Het
Aasdh A T 5: 77,027,861 (GRCm39) F849I probably damaging Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Adam26b C T 8: 43,974,750 (GRCm39) G84D probably damaging Het
Adamtsl1 A T 4: 85,683,092 (GRCm39) E54D probably damaging Het
Ang6 T G 14: 44,239,636 (GRCm39) I31L probably benign Het
Asic4 A G 1: 75,449,060 (GRCm39) N403S probably damaging Het
Bicd1 G A 6: 149,414,990 (GRCm39) V568M probably benign Het
Ccdc192 A G 18: 57,863,895 (GRCm39) E233G probably damaging Het
Cfap45 A T 1: 172,366,163 (GRCm39) M339L probably benign Het
Cnga4 A G 7: 105,056,286 (GRCm39) D399G probably damaging Het
Csnk1g3 C T 18: 54,028,897 (GRCm39) R17W probably damaging Het
Dnah11 A G 12: 117,894,939 (GRCm39) F3636S probably damaging Het
Dscaml1 A T 9: 45,596,681 (GRCm39) T842S probably benign Het
Ets2 C A 16: 95,516,127 (GRCm39) Q236K probably benign Het
Ext2 C A 2: 93,644,108 (GRCm39) V58L probably benign Het
Fam135b T C 15: 71,322,359 (GRCm39) K1269E possibly damaging Het
Fech A G 18: 64,597,185 (GRCm39) L258P probably damaging Het
Gls A G 1: 52,230,311 (GRCm39) S467P probably damaging Het
Gm19410 T A 8: 36,269,779 (GRCm39) D1141E probably damaging Het
Gm45861 T G 8: 28,071,032 (GRCm39) M1246R unknown Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Itga7 G T 10: 128,769,775 (GRCm39) probably benign Het
Itpripl1 A T 2: 126,983,581 (GRCm39) C180* probably null Het
Klhl33 C A 14: 51,130,631 (GRCm39) V28F probably damaging Het
Kmo A T 1: 175,481,194 (GRCm39) D304V probably damaging Het
Mier2 T C 10: 79,377,028 (GRCm39) N537S possibly damaging Het
Mroh9 A G 1: 162,902,277 (GRCm39) I112T possibly damaging Het
Mterf1a T A 5: 3,940,995 (GRCm39) E291V probably damaging Het
Muc5ac T A 7: 141,362,405 (GRCm39) N1905K unknown Het
Myt1l G A 12: 29,877,087 (GRCm39) R246Q unknown Het
Nav2 A G 7: 49,232,605 (GRCm39) E1854G probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Nf1 T A 11: 79,300,350 (GRCm39) D287E probably benign Het
Nfyc T C 4: 120,630,966 (GRCm39) probably null Het
Obscn A T 11: 58,929,725 (GRCm39) D5163E probably damaging Het
Or10d4c C T 9: 39,558,403 (GRCm39) P127L probably damaging Het
Or8g28 T A 9: 39,169,984 (GRCm39) probably null Het
Plppr1 A T 4: 49,320,002 (GRCm39) L209F possibly damaging Het
Pmm1 T C 15: 81,835,803 (GRCm39) D226G probably damaging Het
Polr1b T A 2: 128,959,766 (GRCm39) probably null Het
Ppp2r5a A G 1: 191,104,806 (GRCm39) V80A probably benign Het
Pramel17 T A 4: 101,695,159 (GRCm39) I51L probably benign Het
Psrc1 A G 3: 108,293,759 (GRCm39) probably null Het
Ralbp1 T C 17: 66,174,593 (GRCm39) T60A probably benign Het
Rasal2 A T 1: 157,020,339 (GRCm39) S217T possibly damaging Het
Rnase12 A G 14: 51,294,395 (GRCm39) F95L probably damaging Het
Rnf152 A T 1: 105,211,957 (GRCm39) I200K probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Sell A T 1: 163,892,903 (GRCm39) T40S probably benign Het
Slc15a2 G A 16: 36,595,964 (GRCm39) H153Y probably damaging Het
Slit3 A G 11: 35,591,139 (GRCm39) D1317G possibly damaging Het
Slx4 G A 16: 3,817,164 (GRCm39) T19M probably benign Het
Spata31 C T 13: 65,070,359 (GRCm39) R836* probably null Het
Specc1l T C 10: 75,080,921 (GRCm39) S106P probably benign Het
Speer1a C A 5: 11,394,884 (GRCm39) Q124K possibly damaging Het
Stc2 T C 11: 31,317,799 (GRCm39) N74S probably damaging Het
Strn3 A T 12: 51,674,543 (GRCm39) S498T probably damaging Het
Sva C T 6: 42,019,148 (GRCm39) T106I probably benign Het
Tle3 T A 9: 61,301,984 (GRCm39) L131Q possibly damaging Het
Tmem135 T A 7: 88,954,727 (GRCm39) R97W probably damaging Het
Tmx4 A G 2: 134,451,425 (GRCm39) L176S possibly damaging Het
Tomm20l C A 12: 71,164,171 (GRCm39) probably null Het
Topors A T 4: 40,262,173 (GRCm39) F370L possibly damaging Het
Ulk4 T C 9: 120,970,904 (GRCm39) T1023A probably benign Het
Unc13a C T 8: 72,094,153 (GRCm39) probably null Het
Urb2 T C 8: 124,756,491 (GRCm39) S733P probably benign Het
Vwf A G 6: 125,591,060 (GRCm39) D750G Het
Xylt1 G A 7: 117,192,812 (GRCm39) D373N probably benign Het
Other mutations in Ryk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Ryk APN 9 102,774,465 (GRCm39) missense probably benign 0.38
R1168:Ryk UTSW 9 102,775,674 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- GGATTTCTCAAGCAACCTGC -3'
(R):5'- GTGAGTCACACTAGTACAGAGTCATTC -3'

Sequencing Primer
(F):5'- GCAACCTGCTTTGTGGGC -3'
(R):5'- AGTCATTCCAAAGGTCTGGC -3'
Posted On 2019-10-17