Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Pacsin2'

38081

Institutional Source

Beutler Lab

Gene Symbol

Pacsin2

Ensembl Gene

ENSMUSG00000016664

Gene Name

protein kinase C and casein kinase substrate in neurons 2

Synonyms

Syndapin II

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0399 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

83259812-83348800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83270983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 222 (Y222C)

Ref Sequence

ENSEMBL: ENSMUSP00000155334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056177] [ENSMUST00000165095] [ENSMUST00000171436] [ENSMUST00000229337] [ENSMUST00000230679] [ENSMUST00000230816] [ENSMUST00000231184] [ENSMUST00000231946]

AlphaFold

Q9WVE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000056177
AA Change: Y222C

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

SMART Domains

Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: Y222C

Domain	Start	End	E-Value	Type
FCH	16	104	8.73e-25	SMART
low complexity region	146	162	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
SH3	429	486	2.04e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165095
AA Change: Y222C

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

SMART Domains

Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: Y222C

Domain	Start	End	E-Value	Type
FCH	16	104	8.73e-25	SMART
low complexity region	146	162	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
SH3	429	486	2.04e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171436
AA Change: Y222C

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

SMART Domains

Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: Y222C

Domain	Start	End	E-Value	Type
FCH	16	104	8.73e-25	SMART
low complexity region	146	162	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
SH3	429	486	2.04e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229337

Predicted Effect

unknown
Transcript: ENSMUST00000230030
AA Change: Y48C

Predicted Effect

probably damaging
Transcript: ENSMUST00000230679
AA Change: Y222C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230816

Predicted Effect

probably damaging
Transcript: ENSMUST00000231184
AA Change: Y222C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231043

Meta Mutation Damage Score

0.7588

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,231,174 (GRCm39)	M120T	unknown	Het
Actr1a	A	T	19: 46,373,450 (GRCm39)		probably null	Het
Anapc5	A	T	5: 122,929,816 (GRCm39)	V555D	probably damaging	Het
Aox1	A	G	1: 58,108,008 (GRCm39)		probably null	Het
Arhgap30	A	G	1: 171,232,384 (GRCm39)	E343G	probably damaging	Het
Asap2	C	T	12: 21,267,998 (GRCm39)	T291I	possibly damaging	Het
Atp5f1a	T	A	18: 77,869,536 (GRCm39)	Y439*	probably null	Het
Auts2	A	T	5: 131,469,362 (GRCm39)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,233,433 (GRCm39)	C109*	probably null	Het
C4b	C	A	17: 34,947,843 (GRCm39)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,544,225 (GRCm39)	L268*	probably null	Het
Cep290	G	A	10: 100,390,262 (GRCm39)		probably benign	Het
Cep68	T	G	11: 20,180,571 (GRCm39)	I687L	probably benign	Het
Chd6	T	A	2: 160,894,608 (GRCm39)	D84V	probably damaging	Het
Clpx	A	G	9: 65,230,051 (GRCm39)	T514A	probably benign	Het
Cox18	A	T	5: 90,362,887 (GRCm39)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,289,586 (GRCm39)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,640,016 (GRCm39)	A339V	possibly damaging	Het
Dock1	T	C	7: 134,765,171 (GRCm39)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,380,818 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
Ehf	A	G	2: 103,097,215 (GRCm39)	Y246H	probably damaging	Het
Epas1	T	C	17: 87,112,621 (GRCm39)	V73A	probably benign	Het
Filip1	A	G	9: 79,725,592 (GRCm39)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,276,168 (GRCm39)		probably benign	Het
Gm17333	A	T	16: 77,649,678 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,200,346 (GRCm39)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,076,853 (GRCm39)	D83G	probably damaging	Het
Grid2	A	G	6: 64,643,036 (GRCm39)	I933V	probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hook2	A	G	8: 85,720,196 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,269,314 (GRCm39)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm39)	T241S	probably benign	Het
Kank1	A	G	19: 25,388,606 (GRCm39)	I760V	probably benign	Het
Kansl1	T	C	11: 104,314,958 (GRCm39)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,119,446 (GRCm39)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,557,935 (GRCm39)	N217S	probably benign	Het
Lct	T	C	1: 128,228,262 (GRCm39)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,517,529 (GRCm39)		probably benign	Het
Lrrn1	T	A	6: 107,546,081 (GRCm39)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,342,558 (GRCm39)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,336,299 (GRCm39)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,209,075 (GRCm39)		probably benign	Het
Naa25	A	T	5: 121,573,553 (GRCm39)	M761L	probably benign	Het
Ncln	G	A	10: 81,324,131 (GRCm39)	A465V	probably damaging	Het
Nktr	A	G	9: 121,560,550 (GRCm39)	N98S	probably damaging	Het
Or52h9	T	A	7: 104,202,576 (GRCm39)	V150E	probably benign	Het
Or5a1	G	C	19: 12,097,734 (GRCm39)	A114G	possibly damaging	Het
Or6d15	C	A	6: 116,559,742 (GRCm39)	S55I	probably benign	Het
Or8b4	G	T	9: 37,830,849 (GRCm39)	A304S	possibly damaging	Het
Or9g3	T	C	2: 85,590,248 (GRCm39)	I157M	possibly damaging	Het
Pcdhb15	C	T	18: 37,607,221 (GRCm39)	T151M	possibly damaging	Het
Plcz1	C	A	6: 139,968,956 (GRCm39)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,090,136 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,678,684 (GRCm39)		probably benign	Het
Rhbdf2	T	A	11: 116,494,818 (GRCm39)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,122,815 (GRCm39)	Y156*	probably null	Het
Spata46	A	G	1: 170,139,106 (GRCm39)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,584,926 (GRCm39)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,092,134 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,991 (GRCm39)	V320E	possibly damaging	Het
Trib2	T	C	12: 15,843,664 (GRCm39)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,666,701 (GRCm39)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,490,358 (GRCm39)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,770,973 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,656,841 (GRCm39)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 11,927,244 (GRCm39)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,794 (GRCm39)	S300G	probably benign	Het

Other mutations in Pacsin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Pacsin2	APN	15	83,270,887 (GRCm39)	missense	probably damaging	1.00
IGL02574:Pacsin2	APN	15	83,272,864 (GRCm39)	missense	possibly damaging	0.81
R0153:Pacsin2	UTSW	15	83,261,862 (GRCm39)	missense	probably benign	0.11
R0426:Pacsin2	UTSW	15	83,263,996 (GRCm39)	missense	possibly damaging	0.90
R0799:Pacsin2	UTSW	15	83,263,998 (GRCm39)	missense	probably benign	0.44
R0842:Pacsin2	UTSW	15	83,263,382 (GRCm39)	missense	probably damaging	0.99
R1591:Pacsin2	UTSW	15	83,269,252 (GRCm39)	missense	probably damaging	1.00
R2406:Pacsin2	UTSW	15	83,269,313 (GRCm39)	unclassified	probably benign
R3906:Pacsin2	UTSW	15	83,263,256 (GRCm39)	missense	probably damaging	1.00
R4686:Pacsin2	UTSW	15	83,265,976 (GRCm39)	missense	probably benign	0.01
R4815:Pacsin2	UTSW	15	83,269,260 (GRCm39)	missense	probably damaging	1.00
R5849:Pacsin2	UTSW	15	83,274,719 (GRCm39)	missense	possibly damaging	0.87
R6010:Pacsin2	UTSW	15	83,266,020 (GRCm39)	missense	possibly damaging	0.87
R6152:Pacsin2	UTSW	15	83,261,900 (GRCm39)	missense	probably damaging	1.00
R6367:Pacsin2	UTSW	15	83,266,033 (GRCm39)	missense	probably benign
R6457:Pacsin2	UTSW	15	83,263,879 (GRCm39)	splice site	probably null
R7158:Pacsin2	UTSW	15	83,263,943 (GRCm39)	missense	possibly damaging	0.50
R7220:Pacsin2	UTSW	15	83,269,260 (GRCm39)	missense	probably damaging	1.00
R8089:Pacsin2	UTSW	15	83,263,897 (GRCm39)	missense	probably benign
R8464:Pacsin2	UTSW	15	83,263,384 (GRCm39)	nonsense	probably null
X0027:Pacsin2	UTSW	15	83,276,803 (GRCm39)	missense	probably benign	0.06
Z1177:Pacsin2	UTSW	15	83,286,202 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTCAAGCCTTCCATGACTGC -3'
(R):5'- AGCCCATCTGAATACTGGGGTGAC -3'

Sequencing Primer
(F):5'- GCAGCTAGGCATTACCTTAGTC -3'
(R):5'- TACTGGGGTGACCGTCTCTTAC -3'

Posted On

2013-05-23