Mutagenetix > Incidental Mutation

Incidental Mutation 'R8141:Pacsin1'

632558

Institutional Source

Beutler Lab

Gene Symbol

Pacsin1

Ensembl Gene

ENSMUSG00000040276

Gene Name

protein kinase C and casein kinase substrate in neurons 1

Synonyms

A830061D09Rik, Syndapin I

MMRRC Submission

067569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27874565-27930092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27926034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 282 (R282S)

Ref Sequence

ENSEMBL: ENSMUSP00000044168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045896] [ENSMUST00000097360] [ENSMUST00000114872] [ENSMUST00000114873] [ENSMUST00000231236] [ENSMUST00000231669] [ENSMUST00000232437]

AlphaFold

Q61644

PDB Structure

STRUCTURE OF THE F-BAR DOMAIN OF MOUSE SYNDAPIN I [X-RAY DIFFRACTION]
structure of mouse syndapin I (crystal form 2) [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE SYNDAPIN I (CRYSTAL FORM 1) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045896
AA Change: R282S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: R282S

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097360
AA Change: R282S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: R282S

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114872
AA Change: R125S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276
AA Change: R125S

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114873
AA Change: R282S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: R282S

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231236

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231669
AA Change: R282S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232437
AA Change: R282S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.3%
20x: 90.7%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Homozygotes for a gene trapped allele show altered type I interferon responses in plasmacytoid dendritic cells. Homozygotes for a null allele show impaired synaptic vesicle formation, synaptic transmission and neuronal network activity, and develop generalized seizures with tonic-clonic convulsions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,688 (GRCm39)	T229A	probably benign	Het
4930438A08Rik	A	G	11: 58,177,411 (GRCm39)	E40G		Het
Actn2	T	C	13: 12,303,516 (GRCm39)	D428G	probably damaging	Het
Arl14epl	C	A	18: 47,059,410 (GRCm39)	N8K	probably benign	Het
Bend7	T	C	2: 4,757,636 (GRCm39)	V226A	probably benign	Het
C1s1	A	T	6: 124,508,321 (GRCm39)	L556Q	probably damaging	Het
Casr	T	C	16: 36,315,173 (GRCm39)	K966E	probably damaging	Het
Ccm2l	T	C	2: 152,912,791 (GRCm39)	L110P	probably damaging	Het
Cdhr4	G	A	9: 107,873,991 (GRCm39)	R59H		Het
Celf3	C	A	3: 94,395,850 (GRCm39)	N410K	probably damaging	Het
Cfap251	T	G	5: 123,424,493 (GRCm39)	V726G	possibly damaging	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Fam53b	A	C	7: 132,361,758 (GRCm39)	V90G	probably damaging	Het
Fat3	T	A	9: 15,908,362 (GRCm39)	I2547F	possibly damaging	Het
Foxk1	A	G	5: 142,439,716 (GRCm39)	Y524C	probably damaging	Het
Gpr87	A	G	3: 59,087,020 (GRCm39)	S162P	probably damaging	Het
Ifi204	A	G	1: 173,583,189 (GRCm39)	V343A	possibly damaging	Het
Igsf10	A	G	3: 59,237,949 (GRCm39)	L744P	probably damaging	Het
Iqub	T	A	6: 24,491,608 (GRCm39)	K359N	probably benign	Het
Kdm3b	A	T	18: 34,961,599 (GRCm39)	K1459*	probably null	Het
Kirrel1	C	T	3: 86,993,735 (GRCm39)	W507*	probably null	Het
Klra17	T	C	6: 129,849,292 (GRCm39)	D94G	probably damaging	Het
Llgl1	G	C	11: 60,601,142 (GRCm39)	E693D	probably benign	Het
Lrrc37	T	C	11: 103,511,855 (GRCm39)	T38A	unknown	Het
Lypd4	A	T	7: 24,564,254 (GRCm39)	D201E	possibly damaging	Het
Nin	A	G	12: 70,076,795 (GRCm39)	S1794P		Het
Oog2	T	C	4: 143,920,777 (GRCm39)	L70P	probably damaging	Het
Or6n2	T	C	1: 173,897,488 (GRCm39)	L208P	probably damaging	Het
Pcdhb9	T	A	18: 37,535,361 (GRCm39)	Y452N	probably damaging	Het
Pdgfra	T	C	5: 75,338,387 (GRCm39)	V547A	possibly damaging	Het
Plcb4	T	C	2: 135,781,169 (GRCm39)	F209L	probably damaging	Het
Pnpla6	T	C	8: 3,571,384 (GRCm39)	S158P	probably benign	Het
Prlhr	C	G	19: 60,455,747 (GRCm39)	R273P	probably damaging	Het
Prss41	G	A	17: 24,056,607 (GRCm39)	P196L	probably damaging	Het
Ptgr3	T	C	18: 84,112,651 (GRCm39)	L109P	probably benign	Het
Ptpn22	A	G	3: 103,793,643 (GRCm39)	E598G	possibly damaging	Het
Rasal2	T	C	1: 156,992,240 (GRCm39)	D569G	possibly damaging	Het
Sf3b3	A	C	8: 111,547,483 (GRCm39)	M715R	possibly damaging	Het
Ska1	T	C	18: 74,339,907 (GRCm39)	N13S	probably benign	Het
Spocd1	A	C	4: 129,823,497 (GRCm39)	E98A		Het
Sycp1	G	T	3: 102,842,885 (GRCm39)	A28E	possibly damaging	Het
Syf2	C	T	4: 134,664,182 (GRCm39)	R199C	probably damaging	Het
Syne2	A	G	12: 76,108,442 (GRCm39)	D942G	possibly damaging	Het
Tamalin	T	A	15: 101,129,790 (GRCm39)	C358S	possibly damaging	Het
Tmem63a	A	G	1: 180,801,776 (GRCm39)	T764A	probably benign	Het
Ttf1	C	T	2: 28,957,238 (GRCm39)	Q503*	probably null	Het
Usp13	T	C	3: 32,949,025 (GRCm39)	V454A	possibly damaging	Het
Usp47	A	G	7: 111,652,472 (GRCm39)	T50A	possibly damaging	Het
Zfyve26	A	T	12: 79,315,331 (GRCm39)	C1382S	possibly damaging	Het

Other mutations in Pacsin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Pacsin1	APN	17	27,923,809 (GRCm39)	splice site	probably null
IGL02752:Pacsin1	APN	17	27,921,672 (GRCm39)	critical splice acceptor site	probably null
R1428:Pacsin1	UTSW	17	27,924,937 (GRCm39)	missense	probably damaging	1.00
R2332:Pacsin1	UTSW	17	27,923,885 (GRCm39)	missense	possibly damaging	0.73
R4349:Pacsin1	UTSW	17	27,925,978 (GRCm39)	missense	possibly damaging	0.52
R4664:Pacsin1	UTSW	17	27,926,038 (GRCm39)	missense	probably damaging	1.00
R5568:Pacsin1	UTSW	17	27,927,022 (GRCm39)	missense	probably damaging	1.00
R5936:Pacsin1	UTSW	17	27,923,971 (GRCm39)	missense	probably benign	0.16
R5943:Pacsin1	UTSW	17	27,925,045 (GRCm39)	missense	probably damaging	1.00
R6277:Pacsin1	UTSW	17	27,924,969 (GRCm39)	splice site	probably null
R6284:Pacsin1	UTSW	17	27,927,478 (GRCm39)	missense	probably damaging	1.00
R6376:Pacsin1	UTSW	17	27,926,879 (GRCm39)	missense	probably benign	0.33
R7134:Pacsin1	UTSW	17	27,921,707 (GRCm39)	missense	probably damaging	1.00
R7972:Pacsin1	UTSW	17	27,927,613 (GRCm39)	missense	unknown
R9263:Pacsin1	UTSW	17	27,923,924 (GRCm39)	missense	probably damaging	1.00
R9316:Pacsin1	UTSW	17	27,924,707 (GRCm39)	missense	possibly damaging	0.77
R9414:Pacsin1	UTSW	17	27,926,985 (GRCm39)	missense	probably damaging	0.99
Z1177:Pacsin1	UTSW	17	27,927,412 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAATGCCTTTAACTCCAGC -3'
(R):5'- TGGATTCTACAGCCCCAGTG -3'

Sequencing Primer
(F):5'- CACGTGGTGCACATATATGC -3'
(R):5'- CTGAACTTACAGTCCCCT -3'

Posted On

2020-06-30