Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Ryk'

400131

Institutional Source

Beutler Lab

Gene Symbol

Ryk

Ensembl Gene

ENSMUSG00000032547

Gene Name

receptor-like tyrosine kinase

Synonyms

Vik, ERK-3

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102712119-102785506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102744812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 122 (V122A)

Ref Sequence

ENSEMBL: ENSMUSP00000035142 (fasta)

Gene Model

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

AlphaFold

Q01887

Predicted Effect

probably benign
Transcript: ENSMUST00000035142
AA Change: V122A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035142
Gene: ENSMUSG00000032547
AA Change: V122A

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

probably benign
Transcript: ENSMUST00000175883
AA Change: V122A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135858
Gene: ENSMUSG00000032547
AA Change: V122A

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

0.0584

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccdc78	T	A	17: 26,008,962 (GRCm39)		probably null	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Cpt1a	A	T	19: 3,433,800 (GRCm39)	I761F	possibly damaging	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hmgn2	C	A	4: 133,694,597 (GRCm39)	A8S	probably benign	Het
Hook2	A	T	8: 85,721,405 (GRCm39)	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35e4	T	A	11: 3,862,872 (GRCm39)	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,044,134 (GRCm39)	K32N	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zbed5	G	T	5: 129,931,019 (GRCm39)	V323F	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	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
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'- TGGACAGTAGCCTTCAGGTTG -3'
(R):5'- AGCCTAGCTGAACTTGTGCC -3'

Sequencing Primer
(F):5'- CTCACGGCTGACTGCTAGAATTAAAG -3'
(R):5'- CCCCTGGGACCTTTGAGTTTG -3'

Posted On

2016-07-06