Mutagenetix > Incidental Mutation

Incidental Mutation 'R9335:Picalm'

707076

Institutional Source

Beutler Lab

Gene Symbol

Picalm

Ensembl Gene

ENSMUSG00000039361

Gene Name

phosphatidylinositol binding clathrin assembly protein

Synonyms

fit1, fit-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R9335 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89779418-89858655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89825491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 300 (T300A)

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 benign
Transcript: ENSMUST00000049537
AA Change: T300A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: T300A

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: T184A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207225
AA Change: T300A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207484
AA Change: T300A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208089
AA Change: T75A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000208730
AA Change: T300A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000208742
AA Change: T300A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000209068
AA Change: T300A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 90,852,830 (GRCm39)	T102K	probably damaging	Het
Afm	A	T	5: 90,698,086 (GRCm39)	D496V	probably damaging	Het
Aldh1l2	C	T	10: 83,342,510 (GRCm39)	M546I	probably damaging	Het
Apol7c	G	T	15: 77,409,889 (GRCm39)	N352K	probably benign	Het
Arfgef1	A	T	1: 10,228,236 (GRCm39)	D1319E	probably damaging	Het
Atl2	A	G	17: 80,160,207 (GRCm39)	I460T	probably benign	Het
Brms1l	C	A	12: 55,888,431 (GRCm39)	T73K	possibly damaging	Het
C1rl	A	T	6: 124,482,341 (GRCm39)	H154L	probably benign	Het
Cacna2d4	T	A	6: 119,279,014 (GRCm39)	L709Q	probably damaging	Het
Cd101	A	T	3: 100,915,431 (GRCm39)	V716D	probably benign	Het
Cd177	A	G	7: 24,443,711 (GRCm39)	S796P	probably benign	Het
D430041D05Rik	A	T	2: 104,078,674 (GRCm39)	M530K	probably damaging	Het
Dcbld2	A	T	16: 58,272,141 (GRCm39)	Q399L	probably benign	Het
Dennd4b	T	C	3: 90,175,611 (GRCm39)	Y138H	probably damaging	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnai2	A	G	11: 114,625,489 (GRCm39)	I107V	probably benign	Het
Dync2h1	A	C	9: 7,112,149 (GRCm39)	V2480G	possibly damaging	Het
Ect2l	T	A	10: 18,077,032 (GRCm39)	T24S	probably null	Het
Egfr	C	A	11: 16,820,991 (GRCm39)	T302K	probably damaging	Het
Eid1	T	G	2: 125,515,578 (GRCm39)	I156S	possibly damaging	Het
Elmod1	A	T	9: 53,843,116 (GRCm39)	W21R	probably benign	Het
Enah	G	A	1: 181,749,450 (GRCm39)	P463L	probably damaging	Het
Epha7	A	G	4: 28,966,529 (GRCm39)	Y602C	probably benign	Het
Ermap	T	A	4: 119,035,545 (GRCm39)	Y481F	probably damaging	Het
Fam114a2	G	T	11: 57,397,748 (GRCm39)	T231N	possibly damaging	Het
Gdap1	A	G	1: 17,231,389 (GRCm39)	T245A	probably benign	Het
Glmp	T	A	3: 88,235,563 (GRCm39)	V368D	probably damaging	Het
Gm10203	C	T	6: 149,031,815 (GRCm39)	A40V	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hao2	C	A	3: 98,791,010 (GRCm39)	V55L	possibly damaging	Het
Hemgn	A	T	4: 46,394,647 (GRCm39)	S488T	probably benign	Het
Ighv12-3	C	T	12: 114,330,312 (GRCm39)	G61E	probably damaging	Het
Itga2b	T	C	11: 102,346,478 (GRCm39)	E986G	probably damaging	Het
Laptm5	T	G	4: 130,656,839 (GRCm39)	S167A		Het
Lmtk3	A	T	7: 45,442,165 (GRCm39)	Y377F	probably damaging	Het
Lrp2	A	G	2: 69,258,983 (GRCm39)	I4569T	probably benign	Het
Magi2	A	G	5: 20,866,263 (GRCm39)	N176D		Het
Mcf2l	C	A	8: 13,050,812 (GRCm39)	H356N	possibly damaging	Het
Mettl4	T	A	17: 95,042,936 (GRCm39)	Y300F	probably damaging	Het
Naaladl2	T	G	3: 24,467,532 (GRCm39)	K307N	possibly damaging	Het
Or1a1b	T	A	11: 74,097,832 (GRCm39)	D70V	probably damaging	Het
Or2aj4	G	A	16: 19,385,513 (GRCm39)	T40I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or6c8b	C	T	10: 128,882,614 (GRCm39)	G106E	probably damaging	Het
Phip	T	A	9: 82,814,979 (GRCm39)	M248L	probably benign	Het
Ppa1	T	G	10: 61,484,562 (GRCm39)	V19G	possibly damaging	Het
Ppp4r3a	T	C	12: 101,007,013 (GRCm39)	Y793C	probably damaging	Het
Prlr	A	T	15: 10,325,357 (GRCm39)	I177F	probably benign	Het
Prodh	C	A	16: 17,894,160 (GRCm39)	G457V	probably damaging	Het
Prrt3	T	C	6: 113,475,058 (GRCm39)	K55E	probably benign	Het
Prx	G	T	7: 27,217,496 (GRCm39)	V805L	probably damaging	Het
Ptk6	T	G	2: 180,844,146 (GRCm39)	D51A	probably damaging	Het
Rec114	T	A	9: 58,565,041 (GRCm39)	Q205L	probably null	Het
Rfwd3	T	G	8: 112,006,567 (GRCm39)	K510Q	possibly damaging	Het
Sdhb	C	T	4: 140,700,250 (GRCm39)	R117C	probably benign	Het
Serinc2	T	G	4: 130,158,220 (GRCm39)	T21P	probably benign	Het
Serpinb3a	A	C	1: 106,974,886 (GRCm39)	F216V	probably damaging	Het
Sertm1	T	C	3: 54,806,929 (GRCm39)	D32G	probably damaging	Het
Setx	A	G	2: 29,035,963 (GRCm39)	D816G	probably benign	Het
Sfxn4	T	A	19: 60,839,494 (GRCm39)	N188I	probably damaging	Het
Slc26a4	T	C	12: 31,575,553 (GRCm39)	D711G	probably damaging	Het
Sp9	T	C	2: 73,104,621 (GRCm39)	F392L	probably damaging	Het
Ssbp1	T	C	6: 40,454,955 (GRCm39)	L138P	probably damaging	Het
Sv2a	G	A	3: 96,092,588 (GRCm39)	G96E	probably damaging	Het
Tbc1d9	G	T	8: 83,937,160 (GRCm39)	G81C	possibly damaging	Het
Tmem67	G	A	4: 12,040,640 (GRCm39)	Q968*	probably null	Het
Tnni2	T	C	7: 141,998,003 (GRCm39)	S169P	probably damaging	Het
Tpk1	T	C	6: 43,446,084 (GRCm39)		probably null	Het
Unc13b	T	A	4: 43,216,123 (GRCm39)	Y141N	possibly damaging	Het
Unc13b	A	T	4: 43,255,551 (GRCm39)	E1057D	probably damaging	Het
Usf3	G	T	16: 44,041,936 (GRCm39)	G2139C	probably damaging	Het
Vmn1r36	A	T	6: 66,693,430 (GRCm39)	Y148*	probably null	Het
Vmn2r42	A	C	7: 8,197,758 (GRCm39)	M287R	probably damaging	Het
Vmn2r60	A	T	7: 41,844,332 (GRCm39)	H565L	probably damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp974	A	T	7: 27,611,476 (GRCm39)	M83K	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
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
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'- TCCGAAAGCCACACATTTGC -3'
(R):5'- CAGCCTGTAGGACTACTAACAC -3'

Sequencing Primer
(F):5'- CCGAAAGCCACACATTTGCATTTTAG -3'
(R):5'- AGCCTGTTCTTCCTCTAATG -3'

Posted On

2022-04-18