Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Scyl2'

550437

Institutional Source

Beutler Lab

Gene Symbol

Scyl2

Ensembl Gene

ENSMUSG00000069539

Gene Name

SCY1-like 2 (S. cerevisiae)

Synonyms

D10Ertd802e, CVAK104

MMRRC Submission

045243-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89474583-89522147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89505549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 98 (H98R)

Ref Sequence

ENSEMBL: ENSMUSP00000133992 (fasta)

Gene Model

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

AlphaFold

Q8CFE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000092227
AA Change: H98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: H98R

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

probably damaging
Transcript: ENSMUST00000174252
AA Change: H98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: H98R

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

0.9069

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,268,403 (GRCm39)	V809A	possibly damaging	Het
Adam32	T	A	8: 25,404,086 (GRCm39)	D242V	probably damaging	Het
Adamts9	T	A	6: 92,864,672 (GRCm39)	H763L	probably benign	Het
Aff1	A	G	5: 103,990,951 (GRCm39)	D967G	probably damaging	Het
Anpep	A	T	7: 79,491,950 (GRCm39)	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,125,553 (GRCm39)	S28*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bod1l	A	G	5: 41,952,411 (GRCm39)		probably null	Het
Capn5	G	A	7: 97,775,038 (GRCm39)	T534I	probably benign	Het
Cbx2	T	C	11: 118,918,885 (GRCm39)	I150T	probably damaging	Het
Cdh11	A	G	8: 103,384,899 (GRCm39)	V392A	probably damaging	Het
Cenpf	A	T	1: 189,391,373 (GRCm39)	C803S	probably benign	Het
Cep135	A	G	5: 76,741,905 (GRCm39)	T114A	probably benign	Het
Chd2	A	T	7: 73,121,629 (GRCm39)	D994E	probably damaging	Het
Chtf18	C	A	17: 25,941,652 (GRCm39)	W584C	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dgkh	C	A	14: 78,865,224 (GRCm39)	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,607,110 (GRCm39)	H117P	probably benign	Het
Dzip3	A	T	16: 48,748,153 (GRCm39)	N908K	probably benign	Het
Erc2	A	T	14: 27,620,550 (GRCm39)	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,132,786 (GRCm39)	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,615,378 (GRCm39)	L816F	probably damaging	Het
Fat2	A	G	11: 55,202,157 (GRCm39)	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,779,574 (GRCm39)	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,805,824 (GRCm39)		probably benign	Het
Gsk3a	A	T	7: 24,933,279 (GRCm39)	Y177N	probably damaging	Het
Haus5	T	C	7: 30,358,997 (GRCm39)	T222A	probably benign	Het
Igfbp7	G	T	5: 77,549,337 (GRCm39)	Q189K	probably benign	Het
Inppl1	A	T	7: 101,476,663 (GRCm39)	Y771*	probably null	Het
Iqck	A	T	7: 118,514,814 (GRCm39)	Y234F	probably damaging	Het
Irs1	G	T	1: 82,267,819 (GRCm39)	C132*	probably null	Het
Jmjd1c	T	G	10: 67,055,411 (GRCm39)	V277G	probably benign	Het
Klhl22	G	A	16: 17,610,614 (GRCm39)	V622M	probably damaging	Het
Kri1	C	T	9: 21,190,728 (GRCm39)	E378K		Het
Lilra6	C	T	7: 3,916,196 (GRCm39)	G221D	probably damaging	Het
Mecom	T	C	3: 30,035,103 (GRCm39)	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,745,528 (GRCm39)		probably null	Het
Mical1	C	T	10: 41,355,206 (GRCm39)		probably null	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,301,260 (GRCm39)	H535L		Het
Mtarc1	A	G	1: 184,527,437 (GRCm39)	L297P	probably damaging	Het
Mtfr2	C	A	10: 20,228,666 (GRCm39)	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,992,272 (GRCm39)	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,067,635 (GRCm39)	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,063,792 (GRCm39)	A67T	probably damaging	Het
Noc3l	T	A	19: 38,800,789 (GRCm39)	H231L	probably benign	Het
Odf1	T	C	15: 38,219,803 (GRCm39)	Y44H	possibly damaging	Het
Or52e2	G	A	7: 102,804,537 (GRCm39)	T139I	probably damaging	Het
Or52s1b	C	T	7: 102,822,253 (GRCm39)	R197H	probably benign	Het
Or5j3	C	T	2: 86,129,021 (GRCm39)	P287L	probably benign	Het
Otol1	G	T	3: 69,926,027 (GRCm39)	E67D	probably benign	Het
Otud7b	A	G	3: 96,062,554 (GRCm39)	S598G	probably benign	Het
Ppwd1	T	A	13: 104,342,134 (GRCm39)	T607S	probably benign	Het
Prag1	A	G	8: 36,569,714 (GRCm39)	N99S	probably benign	Het
Ralgds	C	A	2: 28,439,320 (GRCm39)	Q737K	possibly damaging	Het
Secisbp2	A	C	13: 51,831,290 (GRCm39)	Q575H	probably benign	Het
Slc9a5	A	T	8: 106,084,268 (GRCm39)	H497L	probably benign	Het
Sufu	T	A	19: 46,464,027 (GRCm39)	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,818,843 (GRCm39)	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,576,196 (GRCm39)	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,734,368 (GRCm39)	S348P	probably benign	Het
Tmem219	A	T	7: 126,490,928 (GRCm39)	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,905,291 (GRCm39)	D104G	probably damaging	Het
Uba7	A	G	9: 107,860,538 (GRCm39)	K927R	probably benign	Het
Vps54	T	G	11: 21,221,720 (GRCm39)	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,000,196 (GRCm39)		probably null	Het
Xpo7	G	A	14: 70,942,146 (GRCm39)	R73W	probably damaging	Het
Zfp532	A	T	18: 65,815,969 (GRCm39)	M781L	probably benign	Het
Zfp930	T	A	8: 69,681,193 (GRCm39)	I295K	probably benign	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
R4079: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
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'- TCATTCGACACACGCAGAGG -3'
(R):5'- TCTGACGCTGCTAAACATATTTGG -3'

Sequencing Primer
(F):5'- CAGGAGTGACACCATCTTCTG -3'
(R):5'- AATTAGGAAGTGGCTGTTTT -3'

Posted On

2019-05-15