Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Scyl2'

366072

Institutional Source

Beutler Lab

Gene Symbol

Scyl2

Ensembl Gene

ENSMUSG00000069539

Gene Name

SCY1-like 2 (S. cerevisiae)

Synonyms

D10Ertd802e, CVAK104

MMRRC Submission

042406-MU

Accession Numbers

Essential gene?

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

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89474583-89522147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89495160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 304 (V304I)

Ref Sequence

ENSEMBL: ENSMUSP00000133992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092227] [ENSMUST00000174252] [ENSMUST00000174492]

AlphaFold

Q8CFE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000092227
AA Change: V304I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: V304I

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 damaging
Transcript: ENSMUST00000174252
AA Change: V304I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: V304I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174492
AA Change: V29I

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134366
Gene: ENSMUSG00000069539
AA Change: V29I

Domain	Start	End	E-Value	Type
SCOP:d1b3ua_	66	259	1e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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 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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,987 (GRCm39)	R490C	probably benign	Het
Abcb11	A	T	2: 69,076,211 (GRCm39)	F1166I	probably damaging	Het
Acta2	T	C	19: 34,223,552 (GRCm39)	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,255,038 (GRCm39)	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,603,117 (GRCm39)	S49A	probably benign	Het
Azi2	A	T	9: 117,890,539 (GRCm39)		probably benign	Het
Bend3	A	T	10: 43,386,746 (GRCm39)	S380C	probably damaging	Het
Bicc1	T	C	10: 70,776,423 (GRCm39)	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,364 (GRCm39)	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 48,166,582 (GRCm39)	W75L	probably damaging	Het
Cenpj	G	A	14: 56,787,002 (GRCm39)	R192*	probably null	Het
Cflar	T	C	1: 58,771,480 (GRCm39)	S203P	probably damaging	Het
Chd6	A	T	2: 160,808,164 (GRCm39)	C1683*	probably null	Het
Cpsf2	A	G	12: 101,963,699 (GRCm39)	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,388 (GRCm39)	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,044,441 (GRCm39)	R1536S	probably damaging	Het
Depdc5	A	C	5: 33,094,979 (GRCm39)	D752A	probably damaging	Het
Dnah9	C	T	11: 65,818,552 (GRCm39)	G78D	probably damaging	Het
Drc1	G	T	5: 30,506,075 (GRCm39)	Q249H	probably benign	Het
Drg1	T	C	11: 3,200,280 (GRCm39)	I364V	probably benign	Het
Dtymk	T	C	1: 93,720,631 (GRCm39)	H130R	probably damaging	Het
Elac2	T	G	11: 64,883,048 (GRCm39)	F140V	probably damaging	Het
Enpp2	A	G	15: 54,739,068 (GRCm39)	V353A	possibly damaging	Het
Fat2	T	C	11: 55,172,013 (GRCm39)	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,699,693 (GRCm39)	T536K	probably benign	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gadl1	A	G	9: 115,795,381 (GRCm39)	K328R	probably null	Het
Gata6	A	G	18: 11,054,394 (GRCm39)	T108A	probably benign	Het
Gm16503	G	T	4: 147,625,554 (GRCm39)	G16V	unknown	Het
Gpr37	T	G	6: 25,669,107 (GRCm39)	E579A	probably damaging	Het
Gps2	T	C	11: 69,807,187 (GRCm39)		probably benign	Het
Hcn4	A	T	9: 58,765,260 (GRCm39)	I581F	unknown	Het
Hfm1	T	A	5: 106,990,405 (GRCm39)	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,237,126 (GRCm39)	S1018R	probably benign	Het
Katnal2	C	T	18: 77,065,239 (GRCm39)		probably null	Het
Kctd8	T	C	5: 69,498,191 (GRCm39)	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,711,592 (GRCm39)	C459R	probably damaging	Het
Ly6l	A	T	15: 75,321,543 (GRCm39)	I48L	probably benign	Het
Megf10	A	T	18: 57,420,866 (GRCm39)	I835F	possibly damaging	Het
Mei1	A	T	15: 81,996,686 (GRCm39)	I946F	possibly damaging	Het
Mrtfb	C	A	16: 13,230,458 (GRCm39)	P1048T	probably damaging	Het
Myo7b	G	C	18: 32,094,953 (GRCm39)	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,639,387 (GRCm39)		probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or5b24	T	C	19: 12,912,440 (GRCm39)	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,955,122 (GRCm39)	S799P	probably benign	Het
Plk4	A	G	3: 40,756,457 (GRCm39)	E97G	probably damaging	Het
Pole2	A	T	12: 69,268,826 (GRCm39)	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,250,488 (GRCm39)	V109L	probably benign	Het
Scn8a	A	G	15: 100,938,352 (GRCm39)	H1917R	probably benign	Het
Serpina3f	G	C	12: 104,185,690 (GRCm39)	E298D	probably benign	Het
Shoc2	A	G	19: 53,976,734 (GRCm39)	E208G	probably benign	Het
Sin3a	G	A	9: 57,004,087 (GRCm39)	V280I	probably benign	Het
Slc26a2	A	T	18: 61,332,558 (GRCm39)	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414 (GRCm38)	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,195,427 (GRCm39)	F430L	possibly damaging	Het
Snx19	A	C	9: 30,351,453 (GRCm39)	Q840H	probably damaging	Het
Spast	C	A	17: 74,676,211 (GRCm39)	D340E	probably damaging	Het
Sprr4	G	A	3: 92,407,716 (GRCm39)	P29S	unknown	Het
Stk11ip	T	G	1: 75,503,799 (GRCm39)	L239R	probably damaging	Het
Thoc6	A	G	17: 23,889,862 (GRCm39)	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,447 (GRCm39)	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,633,753 (GRCm39)	I1284V	probably benign	Het
Ttn	T	C	2: 76,602,851 (GRCm39)	Y16711C	probably damaging	Het
Ttn	A	G	2: 76,541,331 (GRCm39)	L33885P	probably damaging	Het
Ubn2	T	A	6: 38,456,075 (GRCm39)	C501S	probably damaging	Het
Ubr1	A	T	2: 120,793,923 (GRCm39)	L87*	probably null	Het
Uhmk1	T	C	1: 170,027,470 (GRCm39)	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,217,947 (GRCm39)	V465A	probably damaging	Het
Vmn1r1	C	T	1: 181,985,471 (GRCm39)	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,800,182 (GRCm39)	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,555,775 (GRCm39)	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,465,212 (GRCm39)	L1790P	probably benign	Het
Zscan4d	T	A	7: 10,896,594 (GRCm39)	M259L	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
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'- CATCCCTGGTTGTGCTATCG -3'
(R):5'- GCTGAGTAGAAAGGGTTCTTAGC -3'

Sequencing Primer
(F):5'- CCCTGGTTGTGCTATCGGGATC -3'
(R):5'- CTGGCTTTGCTCTTTTGAA -3'

Posted On

2015-12-21