Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Ryk'

683250

Institutional Source

Beutler Lab

Gene Symbol

Ryk

Ensembl Gene

ENSMUSG00000032547

Gene Name

receptor-like tyrosine kinase

Synonyms

Vik, ERK-3

MMRRC Submission

068807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102712119-102785506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102739120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 78 (Y78D)

Ref Sequence

ENSEMBL: ENSMUSP00000135858 (fasta)

Gene Model

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

AlphaFold

Q01887

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035142
AA Change: Y78D

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035142
Gene: ENSMUSG00000032547
AA Change: Y78D

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

possibly damaging
Transcript: ENSMUST00000175883
AA Change: Y78D

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135858
Gene: ENSMUSG00000032547
AA Change: Y78D

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

0.0611

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,886,959 (GRCm39)	I975N	probably benign	Het
Adcy8	A	G	15: 64,570,984 (GRCm39)	*1250Q	probably null	Het
Anapc1	A	T	2: 128,505,952 (GRCm39)	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,578,439 (GRCm39)		probably benign	Het
Ankub1	A	T	3: 57,572,932 (GRCm39)	S263R	possibly damaging	Het
Aoah	A	G	13: 21,024,325 (GRCm39)	I94V	probably benign	Het
Aox1	A	G	1: 58,329,113 (GRCm39)	D186G	probably benign	Het
Arap2	A	T	5: 62,855,668 (GRCm39)	C589*	probably null	Het
Armt1	T	C	10: 4,389,550 (GRCm39)	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,183,598 (GRCm39)	Y185F	probably benign	Het
Cacna2d4	A	G	6: 119,218,142 (GRCm39)	D159G	probably damaging	Het
Camta2	C	A	11: 70,561,184 (GRCm39)	R1184L	probably benign	Het
Ccdc192	T	G	18: 57,725,139 (GRCm39)	L123V	possibly damaging	Het
Ccr7	G	A	11: 99,036,649 (GRCm39)	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,131 (GRCm39)	T323A	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Clec2e	C	A	6: 129,070,374 (GRCm39)	G216*	probably null	Het
Col25a1	T	C	3: 130,269,275 (GRCm39)	S176P	unknown	Het
Col4a3	A	C	1: 82,693,052 (GRCm39)	I1446L	probably benign	Het
Cplane1	T	C	15: 8,233,277 (GRCm39)	W1201R	probably damaging	Het
Cse1l	A	G	2: 166,785,000 (GRCm39)	E823G	probably damaging	Het
Cspg4b	A	G	13: 113,456,293 (GRCm39)	T780A		Het
Dchs2	A	G	3: 83,261,763 (GRCm39)	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,246,824 (GRCm39)	E77G	probably damaging	Het
Dnah6	T	C	6: 73,121,734 (GRCm39)	D1416G	probably benign	Het
Dpyd	T	C	3: 119,108,582 (GRCm39)		probably null	Het
Dst	A	G	1: 34,267,936 (GRCm39)	D3112G	probably damaging	Het
Dusp13b	A	C	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Emilin2	T	G	17: 71,582,079 (GRCm39)	K216Q	probably benign	Het
Enam	T	C	5: 88,641,947 (GRCm39)	W254R	possibly damaging	Het
Esrrg	A	C	1: 187,930,947 (GRCm39)	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,479,132 (GRCm39)	L373P		Het
Gm21060	C	A	19: 61,285,366 (GRCm39)	V48L	possibly damaging	Het
Gtpbp3	T	C	8: 71,943,806 (GRCm39)	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,367,699 (GRCm39)	D171G	probably damaging	Het
Hrg	A	T	16: 22,777,968 (GRCm39)	T242S	probably benign	Het
Inf2	G	T	12: 112,573,949 (GRCm39)	C751F	unknown	Het
Krt13	A	T	11: 100,010,264 (GRCm39)	M239K	possibly damaging	Het
Lrrc72	A	G	12: 36,303,293 (GRCm39)	S7P	probably benign	Het
Matn2	A	G	15: 34,433,196 (GRCm39)	I867V	probably benign	Het
Mdh2	C	T	5: 135,819,019 (GRCm39)	A325V	possibly damaging	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mrpl16	A	T	19: 11,750,307 (GRCm39)	R64*	probably null	Het
Nav1	T	C	1: 135,512,463 (GRCm39)	D199G	probably benign	Het
Nbn	T	C	4: 15,986,585 (GRCm39)	V662A	probably damaging	Het
Nek10	G	A	14: 14,931,321 (GRCm38)		probably null	Het
Or14a257	A	G	7: 86,138,487 (GRCm39)	S91P	probably damaging	Het
Or5t18	C	A	2: 86,637,200 (GRCm39)	V48F	probably benign	Het
Or7g12	C	A	9: 18,899,974 (GRCm39)	S230*	probably null	Het
Or8b37	T	A	9: 37,958,839 (GRCm39)	V107D	possibly damaging	Het
Pcsk7	T	G	9: 45,838,940 (GRCm39)	S617R	probably benign	Het
Pde10a	C	A	17: 9,143,071 (GRCm39)	Q6K	probably benign	Het
Pigq	A	C	17: 26,151,141 (GRCm39)	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,449,833 (GRCm39)	D3865E	probably damaging	Het
Prag1	C	T	8: 36,566,744 (GRCm39)		probably benign	Het
Rbis	C	T	3: 14,672,305 (GRCm39)	V97I	probably benign	Het
Rint1	A	G	5: 24,016,728 (GRCm39)	T498A	probably benign	Het
Rnf213	T	A	11: 119,352,756 (GRCm39)	F3921I		Het
Rpp14	A	G	14: 8,088,768 (GRCm38)	S95G	probably benign	Het
Sez6	A	T	11: 77,865,397 (GRCm39)	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,860,402 (GRCm39)	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,943,202 (GRCm39)	I609K	probably damaging	Het
Slc44a4	T	C	17: 35,140,538 (GRCm39)	F244L	probably damaging	Het
Spata31e1	A	T	13: 49,941,715 (GRCm39)	D80E	probably benign	Het
Susd5	T	C	9: 113,911,572 (GRCm39)	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,925,654 (GRCm39)		probably null	Het
Tbcd	G	C	11: 121,387,679 (GRCm39)		probably benign	Het
Tektip1	T	C	10: 81,199,849 (GRCm39)	D129G	unknown	Het
Tmc1	A	T	19: 20,878,215 (GRCm39)	N93K	probably benign	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Tmem131l	A	T	3: 83,836,039 (GRCm39)	V690D	probably damaging	Het
Trim8	A	G	19: 46,503,903 (GRCm39)	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,577,919 (GRCm39)	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,452,150 (GRCm39)	N443K	possibly damaging	Het
Zan	T	A	5: 137,387,578 (GRCm39)	I4878F	unknown	Het
Zfand4	A	G	6: 116,291,041 (GRCm39)	D344G	probably benign	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
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
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'- ATCCTGCTTCACAAGGCAGC -3'
(R):5'- CCTGAAAAGACCCAGTGCTC -3'

Sequencing Primer
(F):5'- GCTTCACAAGGCAGCTCACATG -3'
(R):5'- TGAAAAGACCCAGTGCTCTATAC -3'

Posted On

2021-10-11