Mutagenetix > Incidental Mutation

Incidental Mutation 'R0827:Scyl2'

78333

Institutional Source

Beutler Lab

Gene Symbol

Scyl2

Ensembl Gene

ENSMUSG00000069539

Gene Name

SCY1-like 2 (S. cerevisiae)

Synonyms

D10Ertd802e, CVAK104

MMRRC Submission

039007-MU

Accession Numbers

Essential gene?

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

Stock #

R0827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89474583-89522147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89493727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 347 (L347P)

Ref Sequence

ENSEMBL: ENSMUSP00000133992 (fasta)

Gene Model

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

AlphaFold

Q8CFE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092227
AA Change: L347P

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: L347P

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

noncoding transcript
Transcript: ENSMUST00000173526

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174252
AA Change: L347P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: L347P

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

probably benign
Transcript: ENSMUST00000174492
AA Change: L72P

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134366
Gene: ENSMUSG00000069539
AA Change: L72P

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

Meta Mutation Damage Score

0.4808

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,419 (GRCm39)	S1397P	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,333,037 (GRCm39)	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,533,034 (GRCm39)	S296P	possibly damaging	Het
Arpc1b	T	G	5: 145,062,566 (GRCm39)	C227G	probably benign	Het
B4gat1	A	G	19: 5,089,725 (GRCm39)	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,377,287 (GRCm39)	N751D	probably benign	Het
Cd55b	T	C	1: 130,341,973 (GRCm39)	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,943 (GRCm39)	V1032A	possibly damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Colec10	G	A	15: 54,325,980 (GRCm39)	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cyp2j12	T	G	4: 96,001,099 (GRCm39)		probably benign	Het
Dennd5a	G	A	7: 109,498,938 (GRCm39)	T999M	probably damaging	Het
Dusp13b	C	A	14: 21,792,839 (GRCm39)	V29L	probably benign	Het
Efr3a	A	C	15: 65,725,400 (GRCm39)	D83A	possibly damaging	Het
Elmod2	A	G	8: 84,043,424 (GRCm39)		probably null	Het
Eml3	C	A	19: 8,915,830 (GRCm39)	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,480,388 (GRCm39)	V543A	possibly damaging	Het
Ermn	T	C	2: 57,938,263 (GRCm39)	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,314,696 (GRCm39)	S194P	probably benign	Het
Faim2	A	G	15: 99,422,617 (GRCm39)	V60A	probably benign	Het
Fancd2	G	A	6: 113,563,210 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,115 (GRCm39)	S31T	possibly damaging	Het
Gab2	G	A	7: 96,949,539 (GRCm39)	R411Q	probably damaging	Het
Gpm6a	A	T	8: 55,511,918 (GRCm39)	D264V	probably damaging	Het
H1f6	A	G	13: 23,880,204 (GRCm39)	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,659,129 (GRCm39)	E556G	probably benign	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnc3	A	G	7: 44,244,630 (GRCm39)	T307A	probably damaging	Het
Kin	C	A	2: 10,095,187 (GRCm39)		probably benign	Het
Knl1	T	C	2: 118,919,382 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,386 (GRCm39)	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,649,952 (GRCm39)		probably null	Het
Med13l	T	C	5: 118,864,312 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,497,879 (GRCm39)	D39G	probably damaging	Het
Mlxipl	T	C	5: 135,161,592 (GRCm39)	S504P	probably benign	Het
Myo3a	T	G	2: 22,448,227 (GRCm39)	Y1D	probably damaging	Het
Nek1	A	G	8: 61,558,682 (GRCm39)		probably benign	Het
Nfkbiz	T	C	16: 55,636,730 (GRCm39)	R524G	probably damaging	Het
Npbwr1	T	C	1: 5,987,008 (GRCm39)	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,846,340 (GRCm39)	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,402,252 (GRCm39)	S54L	probably benign	Het
Or13a21	A	G	7: 139,999,380 (GRCm39)	F102S	probably damaging	Het
Or9e1	T	C	11: 58,732,597 (GRCm39)	I219T	probably damaging	Het
Ostn	A	G	16: 27,143,381 (GRCm39)	N70D	probably damaging	Het
Pate7	A	T	9: 35,689,147 (GRCm39)	L12Q	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,567,618 (GRCm39)	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,370,500 (GRCm39)		probably benign	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Ptprd	A	T	4: 76,047,152 (GRCm39)	D371E	probably damaging	Het
Ripor2	T	A	13: 24,878,169 (GRCm39)	F315I	probably damaging	Het
Rmi2	G	A	16: 10,653,104 (GRCm39)	G51S	probably damaging	Het
Scg3	A	G	9: 75,590,979 (GRCm39)	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,366,468 (GRCm39)	K761*	probably null	Het
Sh3d21	A	G	4: 126,046,064 (GRCm39)		probably benign	Het
Shc1	T	A	3: 89,334,090 (GRCm39)		probably null	Het
Slbp	A	G	5: 33,801,166 (GRCm39)	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,835,472 (GRCm39)	G885D	probably benign	Het
Slc24a3	T	C	2: 145,360,412 (GRCm39)		probably benign	Het
Sowahb	T	G	5: 93,191,145 (GRCm39)	N525H	probably damaging	Het
Sppl3	T	A	5: 115,220,392 (GRCm39)	C101*	probably null	Het
Srsf5	A	G	12: 80,996,314 (GRCm39)	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,718,886 (GRCm39)	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113 (GRCm39)		probably benign	Het
Tas1r3	G	A	4: 155,945,326 (GRCm39)	R632W	probably benign	Het
Tlr4	T	A	4: 66,752,117 (GRCm39)		probably null	Het
Tmf1	A	C	6: 97,135,011 (GRCm39)	L1001*	probably null	Het
Tnnt2	A	G	1: 135,771,534 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,178,485 (GRCm39)		probably benign	Het
Trdn	A	T	10: 33,275,154 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,657,754 (GRCm39)	V34E	probably damaging	Het
Trrap	T	C	5: 144,751,640 (GRCm39)	F1699L	probably benign	Het
Ttk	A	G	9: 83,725,968 (GRCm39)	R250G	probably benign	Het
Ttn	T	A	2: 76,640,248 (GRCm39)	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,195,394 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,989 (GRCm39)		probably benign	Het
Ugt2b36	C	A	5: 87,214,234 (GRCm39)	R470L	possibly damaging	Het
Unk	A	G	11: 115,943,935 (GRCm39)	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,451,224 (GRCm39)	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,265,387 (GRCm39)	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,822,405 (GRCm39)	I178V	possibly damaging	Het
Zfp943	A	G	17: 22,211,071 (GRCm39)		probably null	Het
Zyg11a	A	G	4: 108,067,239 (GRCm39)		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
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
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'- AACCAGCACAGGTAGCCTTAACACA -3'
(R):5'- tgctttttgggtttttcagaggTATTCTAGT -3'

Sequencing Primer
(F):5'- GCATCGTAAGGTTCACATCCG -3'
(R):5'- tccctgctgagctatctttac -3'

Posted On

2013-10-16