Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Scyl2'

316762

Institutional Source

Beutler Lab

Gene Symbol

Scyl2

Ensembl Gene

ENSMUSG00000069539

Gene Name

SCY1-like 2 (S. cerevisiae)

Synonyms

D10Ertd802e, CVAK104

MMRRC Submission

040976-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89474583-89522147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89476458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 889 (M889K)

Ref Sequence

ENSEMBL: ENSMUSP00000133992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092227] [ENSMUST00000174252]

AlphaFold

Q8CFE4

Predicted Effect

probably benign
Transcript: ENSMUST00000092227
AA Change: M888K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: M888K

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	32	324	9.7e-15	PFAM
Pfam:Pkinase	32	327	4.6e-24	PFAM
low complexity region	356	369	N/A	INTRINSIC
low complexity region	679	704	N/A	INTRINSIC
low complexity region	896	921	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105294

Predicted Effect

probably benign
Transcript: ENSMUST00000174252
AA Change: M889K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: M889K

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	32	324	6.4e-15	PFAM
Pfam:Pkinase	32	327	2.9e-26	PFAM
low complexity region	356	369	N/A	INTRINSIC
low complexity region	680	705	N/A	INTRINSIC
low complexity region	897	922	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, absent gastric milk in neonates, postnatal growth retardation, sensory-motor deficits and limb grapsing. Mice homozygous for a conditional allele exhibit similar phenotypes with near complete loss of CA3 neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,247,473 (GRCm39)		probably null	Het
Ankfy1	C	A	11: 72,580,835 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,720,694 (GRCm39)	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Armc9	A	T	1: 86,140,851 (GRCm39)		probably benign	Het
Bnc1	T	C	7: 81,623,508 (GRCm39)	E573G	probably damaging	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 123,374,434 (GRCm39)		probably null	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdc45	A	T	16: 18,630,110 (GRCm39)	V19D	probably damaging	Het
Cfap57	C	A	4: 118,456,194 (GRCm39)	S500I	probably benign	Het
Cnga3	A	T	1: 37,280,946 (GRCm39)	Q47L	possibly damaging	Het
Corin	T	C	5: 72,661,226 (GRCm39)	D89G	probably benign	Het
Cox16	A	T	12: 81,521,109 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,006,791 (GRCm39)	N50S	probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fcer1a	C	T	1: 173,052,920 (GRCm39)	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,892,120 (GRCm39)	V318A	probably damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Kpna7	A	G	5: 144,942,737 (GRCm39)	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,601,110 (GRCm39)		probably null	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,596,998 (GRCm39)	L152W	probably damaging	Het
Mog	A	G	17: 37,323,302 (GRCm39)	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,439,634 (GRCm39)	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,441,057 (GRCm39)	R531Q	probably damaging	Het
Mx2	A	G	16: 97,357,236 (GRCm39)	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,806,123 (GRCm39)	Y323H	probably damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Or52x1	A	T	7: 104,853,228 (GRCm39)	H107Q	probably damaging	Het
Or8u10	A	G	2: 85,915,656 (GRCm39)	V155A	possibly damaging	Het
Patl1	C	T	19: 11,908,994 (GRCm39)	A467V	probably damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phax	A	G	18: 56,709,051 (GRCm39)	N183S	possibly damaging	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptpru	A	T	4: 131,526,021 (GRCm39)		probably null	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,115,510 (GRCm39)	S693P	probably benign	Het
Serpina3a	C	T	12: 104,085,934 (GRCm39)	Q320*	probably null	Het
Slc12a1	A	T	2: 125,042,543 (GRCm39)	N733I	possibly damaging	Het
Snap47	C	T	11: 59,319,377 (GRCm39)	V254I	probably benign	Het
Speer4e2	A	T	5: 15,027,663 (GRCm39)	L71Q	probably damaging	Het
St6galnac2	A	T	11: 116,572,724 (GRCm39)	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tns1	G	A	1: 74,034,467 (GRCm39)	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,667,537 (GRCm39)	L3P	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp32	T	A	11: 84,930,055 (GRCm39)	Y574F	probably damaging	Het

Other mutations in Scyl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Scyl2	APN	10	89,493,671 (GRCm39)	critical splice donor site	probably null
IGL01141:Scyl2	APN	10	89,476,497 (GRCm39)	missense	probably benign
IGL01597:Scyl2	APN	10	89,488,849 (GRCm39)	missense	probably damaging	0.99
IGL01713:Scyl2	APN	10	89,490,087 (GRCm39)	missense	probably damaging	1.00
IGL02349:Scyl2	APN	10	89,493,800 (GRCm39)	splice site	probably benign
IGL02466:Scyl2	APN	10	89,488,871 (GRCm39)	nonsense	probably null
IGL02511:Scyl2	APN	10	89,476,681 (GRCm39)	missense	probably benign
IGL02949:Scyl2	APN	10	89,496,163 (GRCm39)	missense	possibly damaging	0.82
IGL03087:Scyl2	APN	10	89,488,830 (GRCm39)	missense	possibly damaging	0.93
IGL03117:Scyl2	APN	10	89,493,729 (GRCm39)	missense	possibly damaging	0.95
IGL03228:Scyl2	APN	10	89,485,942 (GRCm39)	missense	probably damaging	1.00
R0019:Scyl2	UTSW	10	89,495,183 (GRCm39)	missense	probably benign	0.44
R0827:Scyl2	UTSW	10	89,493,727 (GRCm39)	missense	possibly damaging	0.91
R1394:Scyl2	UTSW	10	89,476,827 (GRCm39)	missense	possibly damaging	0.59
R1460:Scyl2	UTSW	10	89,493,751 (GRCm39)	missense	possibly damaging	0.90
R1572:Scyl2	UTSW	10	89,486,818 (GRCm39)	missense	probably damaging	1.00
R1624:Scyl2	UTSW	10	89,476,598 (GRCm39)	missense	probably benign	0.19
R1909:Scyl2	UTSW	10	89,476,767 (GRCm39)	missense	probably benign	0.01
R3846:Scyl2	UTSW	10	89,476,403 (GRCm39)	missense	probably damaging	1.00
R4041:Scyl2	UTSW	10	89,485,914 (GRCm39)	missense	probably damaging	1.00
R4077:Scyl2	UTSW	10	89,476,458 (GRCm39)	missense	probably benign	0.01
R4765:Scyl2	UTSW	10	89,495,160 (GRCm39)	missense	probably damaging	0.97
R4855:Scyl2	UTSW	10	89,476,325 (GRCm39)	utr 3 prime	probably benign
R5308:Scyl2	UTSW	10	89,477,869 (GRCm39)	missense	probably benign	0.01
R5894:Scyl2	UTSW	10	89,476,681 (GRCm39)	missense	probably benign
R5901:Scyl2	UTSW	10	89,496,124 (GRCm39)	missense	probably benign	0.03
R6048:Scyl2	UTSW	10	89,481,348 (GRCm39)	missense	probably benign	0.33
R6249:Scyl2	UTSW	10	89,493,719 (GRCm39)	missense	possibly damaging	0.93
R6658:Scyl2	UTSW	10	89,476,835 (GRCm39)	missense	probably benign	0.01
R6827:Scyl2	UTSW	10	89,505,666 (GRCm39)	critical splice acceptor site	probably null
R6909:Scyl2	UTSW	10	89,481,604 (GRCm39)	missense	probably benign	0.28
R7027:Scyl2	UTSW	10	89,481,323 (GRCm39)	critical splice donor site	probably null
R7095:Scyl2	UTSW	10	89,505,549 (GRCm39)	missense	probably damaging	1.00
R8062:Scyl2	UTSW	10	89,490,022 (GRCm39)	missense	probably damaging	0.97
R8095:Scyl2	UTSW	10	89,476,965 (GRCm39)	missense	probably damaging	1.00
R8197:Scyl2	UTSW	10	89,498,228 (GRCm39)	missense	probably benign	0.33
R8232:Scyl2	UTSW	10	89,498,309 (GRCm39)	missense	probably damaging	1.00
R8241:Scyl2	UTSW	10	89,489,971 (GRCm39)	missense	possibly damaging	0.80
R8263:Scyl2	UTSW	10	89,476,525 (GRCm39)	missense	possibly damaging	0.50
R9020:Scyl2	UTSW	10	89,488,858 (GRCm39)	missense	probably damaging	1.00
R9748:Scyl2	UTSW	10	89,476,794 (GRCm39)	missense	probably benign	0.11
Z1177:Scyl2	UTSW	10	89,505,577 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTCAAGCCCGCTATACACTG -3'
(R):5'- GTGAAGCAGCCTCAACAGAG -3'

Sequencing Primer
(F):5'- CAGCTTTCTCATGATTGAAACTGCAG -3'
(R):5'- GAGACCAACCGATATGTCTGC -3'

Posted On

2015-05-15