Mutagenetix > Incidental Mutation

Incidental Mutation 'R5338:Ryk'

423637

Institutional Source

Beutler Lab

Gene Symbol

Ryk

Ensembl Gene

ENSMUSG00000032547

Gene Name

receptor-like tyrosine kinase

Synonyms

Vik, ERK-3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5338 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102712119-102785506 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 102774516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 417 (E417*)

Ref Sequence

ENSEMBL: ENSMUSP00000135858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035142] [ENSMUST00000175883] [ENSMUST00000176198]

AlphaFold

Q01887

Predicted Effect

probably null
Transcript: ENSMUST00000035142
AA Change: E414*

SMART Domains

Protein: ENSMUSP00000035142
Gene: ENSMUSG00000032547
AA Change: E414*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000175883
AA Change: E417*

SMART Domains

Protein: ENSMUSP00000135858
Gene: ENSMUSG00000032547
AA Change: E417*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177274

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,597 (GRCm39)	N252K	probably damaging	Het
Abhd16a	A	G	17: 35,313,278 (GRCm39)	E132G	probably damaging	Het
Adgrv1	G	A	13: 81,677,165 (GRCm39)	R1889W	possibly damaging	Het
Aftph	A	T	11: 20,677,203 (GRCm39)	D135E	probably benign	Het
Arf1	A	C	11: 59,104,041 (GRCm39)	F63V	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
B3gnt7	T	A	1: 86,233,366 (GRCm39)	F87Y	probably damaging	Het
Bcat1	A	G	6: 144,953,353 (GRCm39)	Y345H	possibly damaging	Het
Birc2	G	T	9: 7,857,360 (GRCm39)	T371K	probably benign	Het
Ccdc175	A	T	12: 72,231,745 (GRCm39)	S5T	probably damaging	Het
Ccdc186	A	T	19: 56,801,689 (GRCm39)	S143T	possibly damaging	Het
Cct6b	A	T	11: 82,653,015 (GRCm39)	M28K	possibly damaging	Het
Cers4	C	A	8: 4,565,680 (GRCm39)	A42D	probably damaging	Het
Crmp1	G	T	5: 37,437,018 (GRCm39)	V236L	probably benign	Het
Ctdspl2	T	A	2: 121,811,793 (GRCm39)	N212K	probably benign	Het
Dclk3	T	C	9: 111,298,127 (GRCm39)	V557A	possibly damaging	Het
Dnmt1	A	T	9: 20,864,015 (GRCm39)	H23Q	probably benign	Het
Dpp8	G	T	9: 64,971,206 (GRCm39)	E609*	probably null	Het
Dtx3	C	A	10: 127,028,919 (GRCm39)	M106I	probably benign	Het
Ero1b	A	C	13: 12,589,732 (GRCm39)	D45A	probably damaging	Het
Fcho2	T	A	13: 98,867,399 (GRCm39)	D688V	probably damaging	Het
Fhod3	A	T	18: 25,161,138 (GRCm39)	S557C	probably damaging	Het
Flnc	T	C	6: 29,444,063 (GRCm39)	S626P	possibly damaging	Het
Foxi3	G	T	6: 70,937,602 (GRCm39)	G278V	probably damaging	Het
Gbp10	A	G	5: 105,372,166 (GRCm39)	L198P	probably damaging	Het
Gcn1	A	G	5: 115,721,462 (GRCm39)	T458A	probably benign	Het
Gigyf1	C	T	5: 137,521,422 (GRCm39)		probably benign	Het
Gtpbp2	A	C	17: 46,478,760 (GRCm39)	T526P	probably damaging	Het
Gys2	A	G	6: 142,400,239 (GRCm39)	L324S	probably damaging	Het
Hpn	C	A	7: 30,802,781 (GRCm39)	V119L	probably benign	Het
Ino80d	C	A	1: 63,098,098 (GRCm39)	V599L	probably benign	Het
Kcnh3	G	T	15: 99,140,275 (GRCm39)	G1054*	probably null	Het
Maml1	A	T	11: 50,157,778 (GRCm39)	D132E	probably benign	Het
Mastl	A	T	2: 23,023,503 (GRCm39)	S407T	probably benign	Het
Mettl1	T	C	10: 126,878,954 (GRCm39)	W3R	probably damaging	Het
Mprip	A	G	11: 59,651,399 (GRCm39)	Y1701C	probably damaging	Het
Mylk3	T	C	8: 86,069,350 (GRCm39)	N484D	probably damaging	Het
Nod2	G	A	8: 89,399,413 (GRCm39)		probably null	Het
Nrde2	A	T	12: 100,097,037 (GRCm39)	F921Y	probably damaging	Het
Nup88	G	T	11: 70,835,734 (GRCm39)	T575N	probably damaging	Het
Nxpe3	T	C	16: 55,686,706 (GRCm39)	T101A	possibly damaging	Het
Or1o3	T	A	17: 37,574,532 (GRCm39)	T8S	probably benign	Het
Or2r11	A	G	6: 42,437,908 (GRCm39)	M15T	probably benign	Het
Or4c109	C	T	2: 88,817,809 (GRCm39)	V246I	possibly damaging	Het
Or52e15	A	G	7: 104,645,514 (GRCm39)	L199S	possibly damaging	Het
Or8g32	A	T	9: 39,305,371 (GRCm39)	I92F	probably damaging	Het
Pcnx3	A	T	19: 5,722,624 (GRCm39)	L1356Q	probably damaging	Het
Pkd1	A	T	17: 24,813,510 (GRCm39)	M4017L	probably benign	Het
Polg2	A	G	11: 106,670,064 (GRCm39)	C69R	possibly damaging	Het
Prr5l	T	G	2: 101,547,452 (GRCm39)	S358R	probably benign	Het
Ptprg	A	G	14: 12,154,111 (GRCm38)	T611A	probably benign	Het
Sbp	T	C	17: 24,161,396 (GRCm39)		probably benign	Het
Sema4a	T	C	3: 88,358,804 (GRCm39)	T155A	probably benign	Het
Shank3	A	G	15: 89,415,914 (GRCm39)		probably null	Het
Slc35d2	A	T	13: 64,245,496 (GRCm39)	M294K	possibly damaging	Het
Slc41a3	A	T	6: 90,589,153 (GRCm39)	N88I	possibly damaging	Het
Slit3	A	G	11: 35,512,975 (GRCm39)	T534A	probably benign	Het
Ssx2ip	A	G	3: 146,142,296 (GRCm39)		probably null	Het
Stard13	T	C	5: 150,983,063 (GRCm39)	K648R	probably damaging	Het
Tanc1	A	T	2: 59,626,178 (GRCm39)	T512S	probably damaging	Het
Tbcc	T	C	17: 47,202,082 (GRCm39)	V156A	probably benign	Het
Terf1	T	G	1: 15,901,787 (GRCm39)	I273R	possibly damaging	Het
Tesc	A	G	5: 118,197,523 (GRCm39)	Y179C	probably damaging	Het
Ttc3	T	G	16: 94,184,900 (GRCm39)	V40G	probably damaging	Het
Tysnd1	T	A	10: 61,532,028 (GRCm39)	F227I	probably damaging	Het
Vps53	T	C	11: 75,972,034 (GRCm39)	E271G	probably damaging	Het
Wdfy4	C	T	14: 32,812,823 (GRCm39)	R1650H	probably damaging	Het

Other mutations in Ryk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

PCR Primer
(F):5'- CTGGTTTAAGAAGTAGGCCATTTG -3'
(R):5'- ATCTTCACGGTCCTCTAAATCG -3'

Sequencing Primer
(F):5'- AAGTGTGTTTGGAATTTCATTTTGC -3'
(R):5'- TTCACGGTCCTCTAAATCGACAGC -3'

Posted On

2016-08-04