Mutagenetix > Incidental Mutation

Incidental Mutation 'R9524:Picalm'

719085

Institutional Source

Beutler Lab

Gene Symbol

Picalm

Ensembl Gene

ENSMUSG00000039361

Gene Name

phosphatidylinositol binding clathrin assembly protein

Synonyms

fit1, fit-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R9524 (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 89810484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 97 (L97*)

Ref Sequence

ENSEMBL: ENSMUSP00000146501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000207084] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000208684] [ENSMUST00000208730] [ENSMUST00000208742] [ENSMUST00000209068]

AlphaFold

Q7M6Y3

Predicted Effect

probably null
Transcript: ENSMUST00000049537
AA Change: L97*

SMART Domains

Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: L97*

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 benign
Transcript: ENSMUST00000207084

Predicted Effect

probably null
Transcript: ENSMUST00000207225
AA Change: L97*

Predicted Effect

probably null
Transcript: ENSMUST00000207484
AA Change: L97*

Predicted Effect

probably null
Transcript: ENSMUST00000208684
AA Change: L46*

Predicted Effect

probably null
Transcript: ENSMUST00000208730
AA Change: L97*

Predicted Effect

probably null
Transcript: ENSMUST00000208742
AA Change: L97*

Predicted Effect

probably null
Transcript: ENSMUST00000209068
AA Change: L97*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,180,594 (GRCm39)		probably null	Het
Adra2c	G	A	5: 35,438,143 (GRCm39)	R305Q	probably benign	Het
Ahnak	A	G	19: 9,014,617 (GRCm39)	D147G		Het
Arhgap30	T	A	1: 171,225,114 (GRCm39)	S57T	probably damaging	Het
Aspm	T	C	1: 139,408,607 (GRCm39)	I2498T	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Cc2d1a	G	T	8: 84,870,744 (GRCm39)	D101E	probably benign	Het
Cntfr	A	G	4: 41,661,995 (GRCm39)	L249P	probably damaging	Het
D130043K22Rik	T	C	13: 25,071,876 (GRCm39)	I940T	possibly damaging	Het
Dnah12	T	G	14: 26,572,494 (GRCm39)	C2862G	probably null	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,976,309 (GRCm39)	F1247L	possibly damaging	Het
Dpp10	T	C	1: 123,264,611 (GRCm39)	Q737R	probably damaging	Het
Dpp3	A	G	19: 4,959,897 (GRCm39)	V673A	possibly damaging	Het
Eif2a	A	T	3: 58,448,467 (GRCm39)	K100I	possibly damaging	Het
Flnc	C	A	6: 29,461,109 (GRCm39)	N2694K	probably damaging	Het
Fv1	T	A	4: 147,953,768 (GRCm39)	D111E	possibly damaging	Het
Gcnt3	G	A	9: 69,941,569 (GRCm39)	A333V	probably damaging	Het
Gpr151	T	C	18: 42,712,710 (GRCm39)		probably benign	Het
Gxylt2	A	G	6: 100,727,416 (GRCm39)	T177A	probably benign	Het
Hnmt	G	A	2: 23,893,880 (GRCm39)	L205F	possibly damaging	Het
Ikbkb	A	T	8: 23,172,740 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,578,337 (GRCm39)	S391G	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kif3b	A	T	2: 153,159,460 (GRCm39)	K420N	probably benign	Het
Kmt2a	A	G	9: 44,730,294 (GRCm39)	V3341A	unknown	Het
Lce1i	T	C	3: 92,685,081 (GRCm39)	K32E	unknown	Het
Lmf1	A	G	17: 25,881,514 (GRCm39)	Y521C	probably damaging	Het
Mki67	C	T	7: 135,305,913 (GRCm39)	C655Y	probably damaging	Het
Morc3	T	A	16: 93,667,401 (GRCm39)	V593E	probably benign	Het
Muc16	A	G	9: 18,497,314 (GRCm39)	F6613L	probably benign	Het
Naip1	G	A	13: 100,563,101 (GRCm39)	T688I	probably benign	Het
Or2n1d	T	A	17: 38,646,540 (GRCm39)	L164*	probably null	Het
Otop2	T	A	11: 115,214,503 (GRCm39)	C87S	probably benign	Het
Pik3c2g	T	A	6: 139,606,768 (GRCm39)	W272R	probably damaging	Het
Plekhg4	G	A	8: 106,101,398 (GRCm39)	G20R	unknown	Het
Ppp1r35	G	A	5: 137,777,304 (GRCm39)	A17T	unknown	Het
Ppp2r5e	A	T	12: 75,509,167 (GRCm39)	Y371N	possibly damaging	Het
Rexo1	T	C	10: 80,386,872 (GRCm39)	E62G	probably damaging	Het
Rtl1	T	C	12: 109,556,973 (GRCm39)	E1622G	probably damaging	Het
Ryr1	T	C	7: 28,723,600 (GRCm39)	E4181G	probably damaging	Het
Saxo1	C	A	4: 86,397,132 (GRCm39)	M135I	probably benign	Het
Shank2	C	A	7: 143,964,183 (GRCm39)	P597Q	possibly damaging	Het
Shld2	G	A	14: 33,971,245 (GRCm39)	Q547*	probably null	Het
Slc44a1	G	A	4: 53,542,389 (GRCm39)	V308I	probably benign	Het
Slc6a21	A	G	7: 44,937,785 (GRCm39)	H367R	probably benign	Het
Snx11	G	T	11: 96,660,023 (GRCm39)	T222K	probably benign	Het
Snx4	C	T	16: 33,112,228 (GRCm39)	Q388*	probably null	Het
Sulf1	T	C	1: 12,918,622 (GRCm39)	L831P	probably damaging	Het
Ugt2a3	A	T	5: 87,485,018 (GRCm39)	V2D		Het
Unc5c	T	C	3: 141,494,683 (GRCm39)	V406A	possibly damaging	Het
Unc5d	A	C	8: 29,365,639 (GRCm39)	N115K	probably damaging	Het
Usp28	C	A	9: 48,947,026 (GRCm39)	T819N	probably damaging	Het
Usp42	T	C	5: 143,702,704 (GRCm39)	D639G	possibly damaging	Het
Vmn2r102	T	A	17: 19,897,564 (GRCm39)	M193K	possibly damaging	Het
Vmn2r12	A	G	5: 109,239,823 (GRCm39)	Y247H	probably damaging	Het
Vps13d	T	C	4: 144,822,814 (GRCm39)	D2989G		Het
Vsig2	A	G	9: 37,455,335 (GRCm39)	E295G	probably benign	Het
Wdfy3	T	A	5: 102,055,333 (GRCm39)	N1579I	probably benign	Het
Zfp521	T	C	18: 13,980,173 (GRCm39)	D80G	possibly damaging	Het
Zfp663	A	C	2: 165,195,607 (GRCm39)	L204R	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
R8081:Picalm	UTSW	7	89,840,451 (GRCm39)	nonsense	probably null
R9335:Picalm	UTSW	7	89,825,491 (GRCm39)	missense	probably benign
Z1176:Picalm	UTSW	7	89,846,175 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AATCCGTGTCCCACTATGC -3'
(R):5'- CAGATTGGGTGCTAGGTTTGAAATC -3'

Sequencing Primer
(F):5'- AATCCGTGTCCCACTATGCTATATAG -3'
(R):5'- TTCAAATCAAAAGACTCACTGAACAG -3'

Posted On

2022-07-18