Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Picalm'

507899

Institutional Source

Beutler Lab

Gene Symbol

Picalm

Ensembl Gene

ENSMUSG00000039361

Gene Name

phosphatidylinositol binding clathrin assembly protein

Synonyms

fit1, fit-1

MMRRC Submission

044450-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R6280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89779418-89858655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89826770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 290 (H290R)

Ref Sequence

ENSEMBL: ENSMUSP00000146509 (fasta)

Gene Model

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

AlphaFold

Q7M6Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000049537
AA Change: H406R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: H406R

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
AA Change: H290R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000207225
AA Change: H406R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000207484
AA Change: H406R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

unknown
Transcript: ENSMUST00000208089
AA Change: H181R

Predicted Effect

probably benign
Transcript: ENSMUST00000208730
AA Change: H406R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000208742
AA Change: H406R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000209068
AA Change: H406R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,311,619 (GRCm39)	D1930N	probably benign	Het
Adam8	A	G	7: 139,564,720 (GRCm39)	L667S	probably damaging	Het
Adcy4	A	T	14: 56,016,500 (GRCm39)	I317N	probably damaging	Het
Agpat3	A	G	10: 78,120,872 (GRCm39)	F102S	probably damaging	Het
Apbb2	A	T	5: 66,522,325 (GRCm39)	W443R	probably damaging	Het
BC049715	T	A	6: 136,817,229 (GRCm39)	Y156*	probably null	Het
Bpifc	C	T	10: 85,813,576 (GRCm39)	V323I	probably benign	Het
Camp	T	G	9: 109,676,577 (GRCm39)	I149L	probably benign	Het
Cfap20dc	T	G	14: 8,473,414 (GRCm38)		probably null	Het
Cibar2	A	G	8: 120,898,858 (GRCm39)	I94T	possibly damaging	Het
Cnih1	A	G	14: 47,025,634 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,948,323 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,724 (GRCm39)	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084 (GRCm39)	V442I	probably benign	Het
Fam83g	G	T	11: 61,594,008 (GRCm39)	S514I	probably benign	Het
Fbxo7	A	G	10: 85,864,969 (GRCm39)	N93D	probably benign	Het
Fgf20	G	T	8: 40,734,153 (GRCm39)	S76*	probably null	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Fxr1	G	A	3: 34,100,401 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,798,195 (GRCm39)	L800H	probably damaging	Het
Gpn3	T	A	5: 122,512,022 (GRCm39)	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072 (GRCm39)	M743V	probably damaging	Het
Hira	A	G	16: 18,729,457 (GRCm39)	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,660,621 (GRCm39)		probably null	Het
Hsf2	T	G	10: 57,387,591 (GRCm39)	S370A	probably benign	Het
Htt	T	A	5: 35,028,103 (GRCm39)	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,597,534 (GRCm39)	R27S	possibly damaging	Het
Il17rb	G	A	14: 29,724,928 (GRCm39)	A186V	probably benign	Het
Irak4	G	T	15: 94,449,691 (GRCm39)	E57*	probably null	Het
Kcnh2	T	A	5: 24,536,921 (GRCm39)	H221L	probably benign	Het
Kdm2b	T	C	5: 123,016,687 (GRCm39)	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,141,303 (GRCm39)	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,704,514 (GRCm39)	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,773,910 (GRCm39)	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,284,106 (GRCm39)	N52S	possibly damaging	Het
Lhfpl6	T	C	3: 53,167,935 (GRCm39)	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,539,243 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,846,848 (GRCm39)	I872T	probably benign	Het
Lrit3	T	C	3: 129,582,412 (GRCm39)	E525G	probably damaging	Het
Lrp1	T	C	10: 127,425,453 (GRCm39)	T726A	probably benign	Het
Mep1a	A	T	17: 43,813,283 (GRCm39)	N46K	probably damaging	Het
Muc16	C	A	9: 18,490,613 (GRCm39)		probably null	Het
N4bp1	A	C	8: 87,579,794 (GRCm39)	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,257,739 (GRCm39)	D26G	probably benign	Het
Neu4	G	A	1: 93,952,873 (GRCm39)	S414N	probably damaging	Het
Nudt9	A	G	5: 104,212,935 (GRCm39)	D336G	probably benign	Het
Obscn	C	A	11: 58,954,509 (GRCm39)	G3691V	possibly damaging	Het
Or4c52	A	C	2: 89,845,393 (GRCm39)	I40L	possibly damaging	Het
Or5t17	A	G	2: 86,832,364 (GRCm39)	N17S	probably damaging	Het
Pdgfd	T	A	9: 6,288,627 (GRCm39)	S94T	probably benign	Het
Pou2f3	A	T	9: 43,050,634 (GRCm39)	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,050,635 (GRCm39)	L242M	probably damaging	Het
Prkd3	C	T	17: 79,289,360 (GRCm39)	G187D	probably damaging	Het
Pwp1	A	G	10: 85,710,326 (GRCm39)	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,129 (GRCm39)	L1626P	probably damaging	Het
Resf1	T	C	6: 149,228,555 (GRCm39)	S534P	probably damaging	Het
Rin2	A	G	2: 145,702,939 (GRCm39)	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,995,832 (GRCm39)	T71A	probably benign	Het
Senp7	T	C	16: 55,982,738 (GRCm39)	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,167,703 (GRCm39)	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 24,006,377 (GRCm39)	S468G	probably benign	Het
Slc4a10	A	G	2: 62,112,310 (GRCm39)	N697S	probably benign	Het
Spint1	T	A	2: 119,075,759 (GRCm39)	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,434,905 (GRCm39)	M14K	probably benign	Het
Stard9	A	G	2: 120,531,608 (GRCm39)	K2622E	probably benign	Het
Tbc1d5	T	C	17: 51,089,338 (GRCm39)	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,559,190 (GRCm39)	C261S	probably benign	Het
Tmem150b	A	T	7: 4,727,373 (GRCm39)	I44N	probably benign	Het
Ttn	A	G	2: 76,608,502 (GRCm39)	L17807P	probably damaging	Het
Vcan	G	A	13: 89,873,492 (GRCm39)	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,441,291 (GRCm39)	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,212 (GRCm39)	S761G	probably benign	Het
Wdr11	A	T	7: 129,200,830 (GRCm39)	K34*	probably null	Het
Zfp120	A	T	2: 149,959,964 (GRCm39)	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253 (GRCm39)	P740A	probably benign	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
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
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'- TTCATATCATGCACGTAACAGC -3'
(R):5'- CGTGACCTCATCCGTAAGAAAG -3'

Sequencing Primer
(F):5'- ACAAGTAAACTAGTTAACTTGGCC -3'
(R):5'- CCGTAAGAAAGTGGCTCTTACTC -3'

Posted On

2018-03-15