Mutagenetix > Incidental Mutation

Incidental Mutation 'R8081:Picalm'

629342

Institutional Source

Beutler Lab

Gene Symbol

Picalm

Ensembl Gene

ENSMUSG00000039361

Gene Name

phosphatidylinositol binding clathrin assembly protein

Synonyms

fit1, fit-1

MMRRC Submission

067514-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R8081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89779418-89858655 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 89840451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 540 (L540*)

Ref Sequence

ENSEMBL: ENSMUSP00000146501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000207084] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000208730] [ENSMUST00000208742] [ENSMUST00000209068]

AlphaFold

Q7M6Y3

Predicted Effect

probably null
Transcript: ENSMUST00000049537
AA Change: L535*

SMART Domains

Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: L535*

Domain	Start	End	E-Value	Type
ENTH	20	145	2.42e-39	SMART
coiled coil region	317	349	N/A	INTRINSIC
low complexity region	378	387	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000207084
AA Change: L419*

Predicted Effect

probably null
Transcript: ENSMUST00000207225
AA Change: L485*

Predicted Effect

probably null
Transcript: ENSMUST00000207484
AA Change: L540*

Predicted Effect

probably null
Transcript: ENSMUST00000208089
AA Change: L265*

Predicted Effect

probably null
Transcript: ENSMUST00000208730
AA Change: L485*

Predicted Effect

probably null
Transcript: ENSMUST00000208742
AA Change: L540*

Predicted Effect

probably null
Transcript: ENSMUST00000209068
AA Change: L490*

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for different ENU-induced mutations or knock-out alleles are small, runted and display anemia of variable severity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,313 (GRCm39)	E119V	probably damaging	Het
Adamts2	A	T	11: 50,668,004 (GRCm39)	D522V	probably damaging	Het
Agtpbp1	A	T	13: 59,676,221 (GRCm39)	L183*	probably null	Het
Arhgap10	T	C	8: 78,109,375 (GRCm39)	I403V	possibly damaging	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Cdhr1	C	T	14: 36,815,967 (GRCm39)	V144I	probably benign	Het
Cdk20	A	G	13: 64,586,766 (GRCm39)	I339V	probably benign	Het
Ceacam13	A	G	7: 17,747,113 (GRCm39)	K189E	probably damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cgrrf1	A	G	14: 47,091,468 (GRCm39)	T331A	probably benign	Het
Cntn4	G	A	6: 106,651,568 (GRCm39)	V706I	possibly damaging	Het
Csrnp2	T	C	15: 100,387,462 (GRCm39)	D2G	probably damaging	Het
Cux2	A	G	5: 122,007,519 (GRCm39)	I714T	probably benign	Het
Cx3cr1	C	T	9: 119,880,878 (GRCm39)	E175K	possibly damaging	Het
Dennd1c	G	A	17: 57,381,139 (GRCm39)	P163L	possibly damaging	Het
Dhtkd1	C	T	2: 5,928,919 (GRCm39)	E251K	probably damaging	Het
Epas1	C	T	17: 87,136,797 (GRCm39)	P787S	probably benign	Het
Epha2	T	C	4: 141,049,605 (GRCm39)	V737A	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcsk	T	A	8: 111,615,783 (GRCm39)	R515S	probably benign	Het
Fscb	A	T	12: 64,518,802 (GRCm39)	M888K	unknown	Het
Gldc	ACGACC	AC	19: 30,135,987 (GRCm39)		probably null	Het
Gm14443	A	T	2: 175,012,238 (GRCm39)	C69*	probably null	Het
Gm19668	G	A	10: 77,634,420 (GRCm39)	A183V	unknown	Het
Gm49368	A	G	7: 127,726,280 (GRCm39)	R1231G	unknown	Het
Grin2c	T	C	11: 115,140,719 (GRCm39)	Y1133C	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hydin	T	C	8: 111,092,101 (GRCm39)	S425P	possibly damaging	Het
Ifnl3	T	C	7: 28,223,682 (GRCm39)	S173P	probably damaging	Het
Igkv4-63	A	T	6: 69,355,018 (GRCm39)	S88T	possibly damaging	Het
Klhl5	C	A	5: 65,320,268 (GRCm39)	N607K	possibly damaging	Het
Lag3	A	T	6: 124,882,410 (GRCm39)	L362*	probably null	Het
Lats2	C	A	14: 57,937,968 (GRCm39)	G174C	probably damaging	Het
Mcm6	T	C	1: 128,265,905 (GRCm39)	E622G	probably damaging	Het
Med13l	C	A	5: 118,866,333 (GRCm39)	H462Q	probably damaging	Het
Mrpl53	T	A	6: 83,086,159 (GRCm39)	F23I	probably damaging	Het
Muc5b	T	G	7: 141,417,743 (GRCm39)	I3563S	possibly damaging	Het
Myo16	A	C	8: 10,372,743 (GRCm39)	L147F	unknown	Het
Npc1l1	G	C	11: 6,167,768 (GRCm39)	Q1008E	probably benign	Het
Npy4r	A	G	14: 33,868,524 (GRCm39)	S255P	probably damaging	Het
Nup210	T	C	6: 91,053,657 (GRCm39)	N287D	probably benign	Het
Opn3	T	A	1: 175,493,135 (GRCm39)	H143L	probably damaging	Het
Or12e7	G	T	2: 87,287,513 (GRCm39)	M1I	probably null	Het
Or12j3	A	T	7: 139,952,972 (GRCm39)	L184M	probably damaging	Het
Or12j5	A	T	7: 140,084,369 (GRCm39)	M1K	probably null	Het
Or4k2	T	A	14: 50,423,825 (GRCm39)	N284I	probably damaging	Het
Or5ap2b-ps1	C	T	2: 85,693,839 (GRCm39)	P28L	probably damaging	Het
Pdcd7	C	T	9: 65,253,967 (GRCm39)	R182C	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Ppp1r21	T	A	17: 88,866,272 (GRCm39)	I356N	probably damaging	Het
Rgs6	C	T	12: 83,094,347 (GRCm39)	Q67*	probably null	Het
Ripor2	C	A	13: 24,897,683 (GRCm39)	Q794K	probably benign	Het
Rnf216	A	T	5: 143,013,719 (GRCm39)	I702N	probably damaging	Het
Robo4	T	C	9: 37,316,936 (GRCm39)	L417P	probably damaging	Het
Samhd1	A	T	2: 156,943,358 (GRCm39)	C605*	probably null	Het
Scaper	C	T	9: 55,823,330 (GRCm39)	G22D	unknown	Het
Senp5	T	C	16: 31,784,577 (GRCm39)	T692A	probably damaging	Het
Six6	G	T	12: 72,986,875 (GRCm39)	G16W	probably damaging	Het
Slc38a8	A	T	8: 120,212,269 (GRCm39)	M358K	possibly damaging	Het
Snx2	T	C	18: 53,349,459 (GRCm39)	F407L	probably benign	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
Syk	A	T	13: 52,792,195 (GRCm39)	M429L	probably benign	Het
Tln2	T	A	9: 67,264,029 (GRCm39)	N537Y	probably damaging	Het
Usp29	T	A	7: 6,966,629 (GRCm39)	M824K	probably benign	Het
Utrn	A	G	10: 12,423,803 (GRCm39)		probably benign	Het
Wdr37	C	T	13: 8,885,406 (GRCm39)	D346N	probably damaging	Het
Zfpm2	T	A	15: 40,965,644 (GRCm39)	C710S	probably damaging	Het

Other mutations in Picalm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Picalm	APN	7	89,810,526 (GRCm39)	missense	probably damaging	1.00
IGL01147:Picalm	APN	7	89,826,800 (GRCm39)	missense	probably benign	0.42
IGL02814:Picalm	APN	7	89,840,957 (GRCm39)	missense	possibly damaging	0.75
IGL02828:Picalm	APN	7	89,826,709 (GRCm39)	missense	probably benign
IGL02904:Picalm	APN	7	89,825,619 (GRCm39)	splice site	probably benign
IGL02986:Picalm	APN	7	89,856,793 (GRCm39)	missense	probably benign	0.00
IGL03001:Picalm	APN	7	89,831,454 (GRCm39)	missense	probably benign	0.00
IGL03247:Picalm	APN	7	89,843,499 (GRCm39)	missense	probably benign	0.27
R0024:Picalm	UTSW	7	89,779,912 (GRCm39)	critical splice donor site	probably null
R0085:Picalm	UTSW	7	89,831,525 (GRCm39)	missense	probably benign
R0414:Picalm	UTSW	7	89,838,406 (GRCm39)	missense	possibly damaging	0.94
R0537:Picalm	UTSW	7	89,779,876 (GRCm39)	missense	probably benign	0.05
R0855:Picalm	UTSW	7	89,840,356 (GRCm39)	missense	possibly damaging	0.55
R1269:Picalm	UTSW	7	89,814,757 (GRCm39)	nonsense	probably null
R1496:Picalm	UTSW	7	89,779,859 (GRCm39)	missense	probably benign	0.36
R1635:Picalm	UTSW	7	89,840,459 (GRCm39)	missense	probably damaging	1.00
R1750:Picalm	UTSW	7	89,840,390 (GRCm39)	missense	possibly damaging	0.81
R1755:Picalm	UTSW	7	89,809,757 (GRCm39)	missense	possibly damaging	0.88
R2513:Picalm	UTSW	7	89,846,217 (GRCm39)	missense	probably damaging	1.00
R3850:Picalm	UTSW	7	89,840,912 (GRCm39)	missense	probably damaging	1.00
R3874:Picalm	UTSW	7	89,838,427 (GRCm39)	missense	probably damaging	1.00
R5095:Picalm	UTSW	7	89,819,841 (GRCm39)	missense	probably damaging	1.00
R5368:Picalm	UTSW	7	89,856,803 (GRCm39)	makesense	probably null
R5517:Picalm	UTSW	7	89,819,806 (GRCm39)	missense	possibly damaging	0.68
R6012:Picalm	UTSW	7	89,844,908 (GRCm39)	missense	probably benign
R6280:Picalm	UTSW	7	89,826,770 (GRCm39)	missense	probably benign	0.00
R6739:Picalm	UTSW	7	89,825,916 (GRCm39)	missense	probably damaging	1.00
R6951:Picalm	UTSW	7	89,840,583 (GRCm39)	missense	probably damaging	1.00
R7083:Picalm	UTSW	7	89,825,976 (GRCm39)	missense	probably benign	0.01
R7877:Picalm	UTSW	7	89,779,876 (GRCm39)	missense	probably benign	0.05
R9335:Picalm	UTSW	7	89,825,491 (GRCm39)	missense	probably benign
R9524:Picalm	UTSW	7	89,810,484 (GRCm39)	nonsense	probably null
Z1176:Picalm	UTSW	7	89,846,175 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAATTCCTTTAGAAAGCCGTAGCC -3'
(R):5'- CTGAAGTGAAAGTCAGAATAGGTTC -3'

Sequencing Primer
(F):5'- TTTAGAAAGCCGTAGCCCGTGAG -3'
(R):5'- GTATAGGGGACTTTCAGGATAGC -3'

Posted On

2020-06-30