Mutagenetix > Incidental Mutation

Incidental Mutation 'R7220:Pacsin2'

561767

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

045292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83259812-83348800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83269260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 11 (D11E)

Ref Sequence

ENSEMBL: ENSMUSP00000155925 (fasta)

Gene Model

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

AlphaFold

Q9WVE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056177
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: D278E

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

possibly damaging
Transcript: ENSMUST00000165095
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: D278E

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

possibly damaging
Transcript: ENSMUST00000171436
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: D278E

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

possibly damaging
Transcript: ENSMUST00000230679
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230960

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231184
AA Change: D278E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231946
AA Change: D11E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231043

Meta Mutation Damage Score

0.1398

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,837,337 (GRCm39)	H325Q	probably damaging	Het
Aasdh	T	C	5: 77,049,772 (GRCm39)	I75V	probably benign	Het
Abca14	G	A	7: 119,826,667 (GRCm39)	D438N	possibly damaging	Het
Abca8a	T	A	11: 109,980,793 (GRCm39)	I82F	probably benign	Het
Abca8b	G	T	11: 109,872,543 (GRCm39)	N19K	probably damaging	Het
Acan	A	G	7: 78,757,896 (GRCm39)	N506S		Het
Alox12e	C	A	11: 70,206,731 (GRCm39)	R652L	probably benign	Het
Atad3a	A	G	4: 155,838,498 (GRCm39)	V173A	probably benign	Het
Atl3	A	G	19: 7,506,433 (GRCm39)	K326R	probably null	Het
Atm	G	T	9: 53,423,217 (GRCm39)	C636*	probably null	Het
Atp2c2	G	A	8: 120,472,300 (GRCm39)	M451I	probably benign	Het
Best1	A	T	19: 9,969,479 (GRCm39)	M193K	probably benign	Het
Bmper	G	T	9: 23,310,651 (GRCm39)	G362C	probably damaging	Het
Brd4	T	A	17: 32,444,557 (GRCm39)	Y139F	unknown	Het
Bzw2	A	T	12: 36,173,950 (GRCm39)	I108N	possibly damaging	Het
Cbs	C	A	17: 31,838,191 (GRCm39)	V353L	probably benign	Het
Ceacam20	A	G	7: 19,701,678 (GRCm39)	T22A	probably damaging	Het
Ckap2l	C	T	2: 129,117,436 (GRCm39)	E580K	probably damaging	Het
Ckmt1	T	C	2: 121,189,374 (GRCm39)	L15P	possibly damaging	Het
Clec18a	G	T	8: 111,808,204 (GRCm39)	P66H	probably benign	Het
Cma1	G	T	14: 56,180,120 (GRCm39)	T95K	probably benign	Het
Csmd3	A	G	15: 48,320,994 (GRCm39)	V272A	probably damaging	Het
Ctnna3	A	T	10: 64,670,368 (GRCm39)	E632D	probably benign	Het
Ctsc	T	C	7: 87,946,361 (GRCm39)	L130P	probably damaging	Het
Frmpd2	A	T	14: 33,229,432 (GRCm39)	R339S	probably damaging	Het
Frrs1	C	A	3: 116,674,425 (GRCm39)	S69*	probably null	Het
Gcc2	A	T	10: 58,116,416 (GRCm39)	E1108D	probably benign	Het
Gkn1	A	T	6: 87,326,135 (GRCm39)		probably null	Het
Gtf2a1	A	T	12: 91,534,498 (GRCm39)	M252K	probably benign	Het
H2-Ob	T	C	17: 34,460,234 (GRCm39)	F115S	probably damaging	Het
Ighv1-53	T	C	12: 115,122,135 (GRCm39)	N80S	probably benign	Het
Ighv1-67	T	C	12: 115,567,666 (GRCm39)	K82R	probably benign	Het
Ints1	A	T	5: 139,747,828 (GRCm39)	I1193N	possibly damaging	Het
Kmt2c	A	G	5: 25,549,923 (GRCm39)	F1353L	probably damaging	Het
Luc7l	C	T	17: 26,472,219 (GRCm39)		probably benign	Het
Man1a	A	C	10: 53,796,331 (GRCm39)	S454A	possibly damaging	Het
Mars2	C	A	1: 55,277,222 (GRCm39)	A275D	probably damaging	Het
Nrde2	A	G	12: 100,097,178 (GRCm39)	V874A	probably benign	Het
Ociad1	A	G	5: 73,470,809 (GRCm39)	T244A	probably benign	Het
Or10j2	A	G	1: 173,097,811 (GRCm39)	Y23C	possibly damaging	Het
Or3a10	A	T	11: 73,935,589 (GRCm39)	D170E	possibly damaging	Het
Or8c9	A	T	9: 38,241,046 (GRCm39)	L51F	probably damaging	Het
Ovca2	A	G	11: 75,069,501 (GRCm39)	C41R	possibly damaging	Het
Pcdh15	G	A	10: 74,178,441 (GRCm39)	S566N	possibly damaging	Het
Pde3b	A	G	7: 114,135,297 (GRCm39)	I1038M	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pkhd1	T	A	1: 20,593,350 (GRCm39)	T1588S	possibly damaging	Het
Ppig	A	G	2: 69,580,320 (GRCm39)	D618G	unknown	Het
Pramel17	A	G	4: 101,694,565 (GRCm39)	F106S	probably benign	Het
Prorp	G	A	12: 55,351,200 (GRCm39)	V170M	possibly damaging	Het
Prss51	A	T	14: 64,333,444 (GRCm39)	K18*	probably null	Het
Ptpra	T	A	2: 130,386,417 (GRCm39)	D622E	probably damaging	Het
Ptprs	A	T	17: 56,725,988 (GRCm39)	F1431L	probably benign	Het
Pxdn	A	G	12: 30,044,479 (GRCm39)	I486V	probably benign	Het
Rnpc3	G	A	3: 113,422,004 (GRCm39)	A77V	probably benign	Het
Rtl10	T	A	16: 18,320,026 (GRCm39)	C85*	probably null	Het
Skint10	A	G	4: 112,586,170 (GRCm39)	S149P	probably benign	Het
Slc17a8	A	C	10: 89,412,275 (GRCm39)	V570G	probably benign	Het
Slc25a42	A	T	8: 70,642,148 (GRCm39)	V98E	probably damaging	Het
Smco2	A	G	6: 146,760,363 (GRCm39)	E73G	probably benign	Het
Ss18	T	C	18: 14,812,477 (GRCm39)	Y38C	probably damaging	Het
Sspo	T	A	6: 48,453,540 (GRCm39)	C2909*	probably null	Het
Tbccd1	A	G	16: 22,652,747 (GRCm39)	Y125H	probably benign	Het
Tdrd9	A	G	12: 111,980,888 (GRCm39)	T446A	probably damaging	Het
Tecta	G	T	9: 42,255,183 (GRCm39)	Q1672K	probably benign	Het
Tek	G	C	4: 94,692,541 (GRCm39)	W216C	probably damaging	Het
Timm17a	C	T	1: 135,241,313 (GRCm39)		probably null	Het
Tlr4	A	T	4: 66,758,188 (GRCm39)	H327L	probably benign	Het
Trim33	T	C	3: 103,234,109 (GRCm39)	I449T	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,559 (GRCm39)	N28S	probably null	Het
Vmn2r117	T	A	17: 23,696,177 (GRCm39)	H410L	probably damaging	Het
Vmn2r16	A	G	5: 109,508,772 (GRCm39)	E500G	probably damaging	Het
Wif1	A	G	10: 120,926,019 (GRCm39)	N245S	possibly damaging	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
R0399:Pacsin2	UTSW	15	83,270,983 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGCATTTAGATACAGTGCCTG -3'
(R):5'- AAACAGACATGTGCAGGCTCC -3'

Sequencing Primer
(F):5'- CATTTAGATACAGTGCCTGGGACAC -3'
(R):5'- TGTGCAGGCTCCAAAGAC -3'

Posted On

2019-06-26