Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Pacsin2'

453806

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

044066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83259812-83348800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83274719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 120 (F120L)

Ref Sequence

ENSEMBL: ENSMUSP00000155334 (fasta)

Gene Model

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

AlphaFold

Q9WVE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056177
AA Change: F120L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: F120L

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: F120L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: F120L

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: F120L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: F120L

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: ENSMUST00000229337
AA Change: F120L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000230030

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230679
AA Change: F120L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230816
AA Change: F120L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231184
AA Change: F120L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231043

Meta Mutation Damage Score

0.2919

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agbl1	T	C	7: 75,974,846 (GRCm39)	S113P	probably benign	Het
Ak9	A	G	10: 41,224,045 (GRCm39)	D486G	probably benign	Het
Aopep	A	G	13: 63,163,312 (GRCm39)	D111G	probably benign	Het
Arhgap11a	T	C	2: 113,665,192 (GRCm39)	S469G	probably null	Het
Comtd1	C	T	14: 21,898,188 (GRCm39)	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,775,843 (GRCm39)	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,970,333 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,744,223 (GRCm39)	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,626,892 (GRCm39)	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,881,331 (GRCm39)		probably null	Het
Flcn	T	A	11: 59,695,586 (GRCm39)	I4L	probably damaging	Het
Gm57858	A	T	3: 36,087,026 (GRCm39)	D189E	possibly damaging	Het
Grin2c	T	C	11: 115,151,817 (GRCm39)	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,555 (GRCm39)	S456R	probably benign	Het
Igf1r	A	G	7: 67,839,781 (GRCm39)	D696G	probably benign	Het
Iqgap1	A	T	7: 80,452,906 (GRCm39)	V13D	probably benign	Het
Itgal	A	G	7: 126,916,492 (GRCm39)	N728S	probably benign	Het
Kcnb1	T	A	2: 166,947,946 (GRCm39)	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,366,111 (GRCm39)		probably benign	Het
Kdm4a	C	T	4: 118,019,037 (GRCm39)	R393Q	probably benign	Het
Lcn9	G	A	2: 25,713,268 (GRCm39)		probably null	Het
Madcam1	T	A	10: 79,500,824 (GRCm39)	M47K	probably benign	Het
Matn3	A	G	12: 9,008,829 (GRCm39)	Q314R	probably benign	Het
Msh3	A	T	13: 92,386,386 (GRCm39)	D826E	possibly damaging	Het
Muc4	A	T	16: 32,595,213 (GRCm39)	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,005,172 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,772,759 (GRCm39)	K1807E	probably damaging	Het
Myrip	A	G	9: 120,282,759 (GRCm39)	D688G	probably damaging	Het
Nup153	A	G	13: 46,840,452 (GRCm39)	F1052S	probably damaging	Het
Oplah	T	A	15: 76,181,547 (GRCm39)		probably benign	Het
Or4f14d	A	T	2: 111,960,223 (GRCm39)	I311K	probably benign	Het
Or52r1c	T	A	7: 102,734,728 (GRCm39)	M1K	probably null	Het
Or6z3	A	T	7: 6,463,993 (GRCm39)	I162F	possibly damaging	Het
Or9g19	A	T	2: 85,600,768 (GRCm39)	I208F	probably benign	Het
Ppp1r36	C	A	12: 76,485,931 (GRCm39)	P363Q	probably damaging	Het
Rai1	C	A	11: 60,081,347 (GRCm39)	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf214	G	A	9: 45,779,386 (GRCm39)	P455S	probably damaging	Het
Rnf220	T	C	4: 117,134,809 (GRCm39)	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,335,157 (GRCm39)	V106M	possibly damaging	Het
Sall2	C	A	14: 52,551,704 (GRCm39)	S495I	probably benign	Het
Sars2	A	G	7: 28,443,683 (GRCm39)	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,559,815 (GRCm39)	T693M	probably damaging	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Snrpe	T	A	1: 133,536,652 (GRCm39)	I43L	probably benign	Het
Srsf1	T	C	11: 87,938,684 (GRCm39)	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,453,837 (GRCm39)		probably benign	Het
Stbd1	T	G	5: 92,752,854 (GRCm39)	F115V	probably benign	Het
Stk11ip	T	A	1: 75,503,999 (GRCm39)		probably null	Het
Taf1b	T	A	12: 24,550,524 (GRCm39)	N36K	probably damaging	Het
Tanc1	A	T	2: 59,630,248 (GRCm39)	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,577,793 (GRCm39)	R208L	probably damaging	Het
Trafd1	T	C	5: 121,511,534 (GRCm39)	D428G	probably damaging	Het
Trim24	A	G	6: 37,934,664 (GRCm39)	E793G	probably damaging	Het
Tspan32	T	C	7: 142,569,324 (GRCm39)	C100R	probably damaging	Het
Ttn	T	C	2: 76,576,586 (GRCm39)	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,863,407 (GRCm39)	L894Q	probably damaging	Het
Wfs1	C	G	5: 37,130,608 (GRCm39)	G213R	probably damaging	Het
Zfp384	G	A	6: 125,001,062 (GRCm39)	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,034,086 (GRCm39)	K690N	probably 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
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'- ATGGCCTGTTCTCTACCAGC -3'
(R):5'- CTGGCAGAAGGTAAGTTAACACAC -3'

Sequencing Primer
(F):5'- TCTGCTCTCCTGGGCCAAG -3'
(R):5'- GGTAAGTTAACACACTTTTCTCCTG -3'

Posted On

2017-02-10