Mutagenetix > Incidental Mutation

Incidental Mutation 'R2030:Ryk'

221154

Institutional Source

Beutler Lab

Gene Symbol

Ryk

Ensembl Gene

ENSMUSG00000032547

Gene Name

receptor-like tyrosine kinase

Synonyms

Vik, ERK-3

MMRRC Submission

040037-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102712119-102785506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102758855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 248 (I248N)

Ref Sequence

ENSEMBL: ENSMUSP00000035142 (fasta)

Gene Model

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

AlphaFold

Q01887

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035142
AA Change: I248N

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035142
Gene: ENSMUSG00000032547
AA Change: I248N

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

noncoding transcript
Transcript: ENSMUST00000175788

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175883
AA Change: I248N

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135858
Gene: ENSMUSG00000032547
AA Change: I248N

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

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	C	T	13: 41,981,735 (GRCm39)	V13I	probably damaging	Het
Ak2	A	G	4: 128,902,013 (GRCm39)	K229E	probably benign	Het
Atp13a4	A	T	16: 29,241,502 (GRCm39)	V741D	probably damaging	Het
Bdp1	A	T	13: 100,197,697 (GRCm39)	M896K	probably benign	Het
Ccser1	C	T	6: 61,288,547 (GRCm39)	R237C	probably benign	Het
Cdk7	A	G	13: 100,859,182 (GRCm39)		probably benign	Het
CK137956	A	G	4: 127,845,180 (GRCm39)	S188P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbndd2	A	G	2: 164,330,563 (GRCm39)	D72G	probably damaging	Het
Disp3	A	T	4: 148,344,423 (GRCm39)	I493N	probably damaging	Het
Dnaaf10	A	T	11: 17,179,832 (GRCm39)	T278S	probably benign	Het
Epx	T	C	11: 87,755,650 (GRCm39)	D678G	probably damaging	Het
Fbxw5	G	T	2: 25,394,810 (GRCm39)	V235L	probably damaging	Het
Fmo4	T	A	1: 162,621,741 (GRCm39)	D490V	probably damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Gm4787	C	T	12: 81,425,544 (GRCm39)	V205I	probably damaging	Het
Gpat3	G	A	5: 101,045,687 (GRCm39)	R437K	probably benign	Het
Herc2	A	G	7: 55,834,121 (GRCm39)	S3109G	probably damaging	Het
Hr	G	A	14: 70,808,888 (GRCm39)	R1117H	probably damaging	Het
Htra4	T	A	8: 25,523,593 (GRCm39)	D324V	probably damaging	Het
Kcnd3	A	G	3: 105,366,853 (GRCm39)	Y241C	probably damaging	Het
Kcp	G	A	6: 29,489,071 (GRCm39)	L1072F	probably damaging	Het
Lrrc52	T	C	1: 167,294,028 (GRCm39)	N86D	probably benign	Het
Mindy4	A	G	6: 55,188,247 (GRCm39)	T26A	probably damaging	Het
Mre11a	A	T	9: 14,707,101 (GRCm39)	N117Y	probably damaging	Het
Mrgprb1	A	T	7: 48,097,076 (GRCm39)	S279T	possibly damaging	Het
Myh13	T	G	11: 67,241,064 (GRCm39)	S814A	probably benign	Het
Ncapd2	A	G	6: 125,153,678 (GRCm39)	V679A	possibly damaging	Het
Nipbl	A	T	15: 8,379,771 (GRCm39)	V1007D	probably damaging	Het
Nlrp12	T	A	7: 3,277,049 (GRCm39)	H960L	probably damaging	Het
Or3a1c	T	A	11: 74,046,769 (GRCm39)	M263K	possibly damaging	Het
Or4a72	C	T	2: 89,405,558 (GRCm39)	V171I	probably benign	Het
Or7e169	A	G	9: 19,757,709 (GRCm39)	S69P	probably benign	Het
Pklr	A	G	3: 89,050,545 (GRCm39)	Y402C	probably damaging	Het
Prdm2	T	C	4: 142,859,334 (GRCm39)	T1319A	possibly damaging	Het
Rif1	T	A	2: 51,982,358 (GRCm39)	V541E	probably damaging	Het
Shisa2	A	T	14: 59,867,134 (GRCm39)	I129F	probably damaging	Het
Snap25	T	G	2: 136,611,973 (GRCm39)		probably benign	Het
Snx31	G	A	15: 36,525,848 (GRCm39)	P284S	probably benign	Het
Spata31g1	C	T	4: 42,974,131 (GRCm39)	Q1155*	probably null	Het
Tas2r140	A	G	6: 40,469,154 (GRCm39)	K328R	possibly damaging	Het
Tas2r140	T	C	6: 133,032,213 (GRCm39)	T182A	probably benign	Het
Thumpd2	G	A	17: 81,372,387 (GRCm39)	R35C	probably damaging	Het
Tnxb	A	T	17: 34,937,443 (GRCm39)	N3811Y	probably damaging	Het
Tpte	A	C	8: 22,835,901 (GRCm39)	N428T	probably damaging	Het
Trpm6	A	G	19: 18,831,629 (GRCm39)	D1498G	probably benign	Het
Tsc2	C	T	17: 24,842,444 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,703,277 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,045,017 (GRCm39)	I251V	probably benign	Het
Zc3h6	T	C	2: 128,848,006 (GRCm39)	Y278H	probably damaging	Het
Zfat	A	G	15: 67,990,783 (GRCm39)		probably null	Het
Zfp442	A	T	2: 150,250,042 (GRCm39)	V620E	possibly damaging	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	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
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

PCR Primer
(F):5'- GAGGTTCAGAATTGCTCTCTGAG -3'
(R):5'- GTTACACACTGGTACATTAATCCCAC -3'

Sequencing Primer
(F):5'- GAATAATTTTGCTCTGATGGCATGCC -3'
(R):5'- CTGGTACATTAATCCCACAAATACTC -3'

Posted On

2014-08-25