Incidental Mutation 'R5469:Ryk'
| ID |
433413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ryk
|
| Ensembl Gene |
ENSMUSG00000032547 |
| Gene Name |
receptor-like tyrosine kinase |
| Synonyms |
Vik, ERK-3 |
| MMRRC Submission |
043030-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5469 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
102712119-102785506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102784153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 593
(Y593C)
|
| 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: Y590C
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035142
Gene: ENSMUSG00000032547
AA Change: Y590C
| 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: Y593C
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135858
Gene: ENSMUSG00000032547
AA Change: Y593C
| 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
A |
T |
12: 28,605,305 (GRCm39) |
N331K |
probably benign |
Het |
| Anapc1 |
G |
T |
2: 128,517,621 (GRCm39) |
S341* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,319,683 (GRCm39) |
E1339G |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,557,676 (GRCm39) |
I702N |
probably damaging |
Het |
| Casp2 |
C |
A |
6: 42,246,268 (GRCm39) |
H209N |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,392 (GRCm39) |
V314A |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,353 (GRCm39) |
R294* |
probably null |
Het |
| Cd180 |
T |
A |
13: 102,841,342 (GRCm39) |
H129Q |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,904,608 (GRCm39) |
Y362N |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,372,573 (GRCm39) |
D509E |
probably benign |
Het |
| Ctsh |
G |
T |
9: 89,942,564 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
C |
T |
13: 113,081,073 (GRCm39) |
A369V |
possibly damaging |
Het |
| Enox1 |
A |
G |
14: 77,830,414 (GRCm39) |
T340A |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,317,892 (GRCm39) |
T1357S |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,291,893 (GRCm39) |
S544T |
possibly damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gsap |
A |
T |
5: 21,495,542 (GRCm39) |
Y831F |
possibly damaging |
Het |
| Hnrnpr |
C |
T |
4: 136,046,745 (GRCm39) |
T142M |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,928,377 (GRCm39) |
E579D |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,917,185 (GRCm39) |
P2247S |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,039,193 (GRCm39) |
|
probably null |
Het |
| Pappa |
C |
T |
4: 65,123,389 (GRCm39) |
T908M |
probably benign |
Het |
| Pdcd10 |
T |
A |
3: 75,428,364 (GRCm39) |
K150* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,160,935 (GRCm39) |
I2275N |
probably damaging |
Het |
| Pmvk |
T |
C |
3: 89,374,989 (GRCm39) |
|
probably null |
Het |
| Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,799,247 (GRCm39) |
Q759L |
probably damaging |
Het |
| Rad51ap1 |
C |
T |
6: 126,905,190 (GRCm39) |
S107N |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,372,566 (GRCm39) |
N29K |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,375 (GRCm39) |
M315V |
probably benign |
Het |
| Rrn3 |
A |
G |
16: 13,630,964 (GRCm39) |
E600G |
probably benign |
Het |
| Slc30a3 |
T |
A |
5: 31,246,004 (GRCm39) |
D193V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,427,370 (GRCm39) |
C421F |
possibly damaging |
Het |
| Sstr5 |
A |
C |
17: 25,711,043 (GRCm39) |
V62G |
probably damaging |
Het |
| Tfip11 |
G |
A |
5: 112,482,191 (GRCm39) |
W483* |
probably null |
Het |
| Tlk1 |
T |
C |
2: 70,552,012 (GRCm39) |
H553R |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,932,162 (GRCm39) |
|
probably null |
Het |
| Trav12-1 |
A |
G |
14: 53,775,930 (GRCm39) |
T27A |
probably damaging |
Het |
| Usp9y |
G |
A |
Y: 1,364,714 (GRCm39) |
T1033I |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,186 (GRCm39) |
H130Y |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,451,271 (GRCm39) |
M386L |
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 |
|
|
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'- TGCTAACAGTACAGCTAAGCG -3'
(R):5'- GTGGTATCTAGAAAACACTCTGCG -3'
Sequencing Primer
(F):5'- GCTAACAGTACAGCTAAGCGATTGC -3'
(R):5'- TCTAGAAAACACTCTGCGTTATTAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation