Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Plekhm2'

385712

Institutional Source

Beutler Lab

Gene Symbol

Plekhm2

Ensembl Gene

ENSMUSG00000028917

Gene Name

pleckstrin homology domain containing, family M (with RUN domain) member 2

Synonyms

2310034J19Rik

MMRRC Submission

042577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141353043-141391457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141361687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 272 (F272S)

Ref Sequence

ENSEMBL: ENSMUSP00000081221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000084203]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030751
AA Change: F252S

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

SMART Domains

Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: F252S

Domain	Start	End	E-Value	Type
RUN	93	156	3.18e-21	SMART
low complexity region	230	246	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
low complexity region	485	495	N/A	INTRINSIC
low complexity region	505	538	N/A	INTRINSIC
Blast:PH	596	656	7e-31	BLAST
PH	766	869	2.43e-12	SMART
Blast:PH	879	960	6e-9	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000084203
AA Change: F272S

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

SMART Domains

Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: F272S

Domain	Start	End	E-Value	Type
RUN	93	156	3.18e-21	SMART
low complexity region	250	266	N/A	INTRINSIC
low complexity region	315	327	N/A	INTRINSIC
low complexity region	479	489	N/A	INTRINSIC
low complexity region	505	515	N/A	INTRINSIC
low complexity region	525	558	N/A	INTRINSIC
Blast:PH	616	676	7e-31	BLAST
PH	786	889	2.43e-12	SMART
Blast:PH	899	980	6e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150229

Meta Mutation Damage Score

0.3022

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased leukocyte numbers and decreased susceptibility to Salmonella infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,041,515 (GRCm39)	S215R	possibly damaging	Het
Abcc9	T	C	6: 142,627,867 (GRCm39)	M388V	probably benign	Het
Acbd6	A	C	1: 155,477,275 (GRCm39)	T154P	probably benign	Het
Ago1	T	C	4: 126,347,447 (GRCm39)	D434G	probably damaging	Het
Ankib1	A	T	5: 3,819,652 (GRCm39)	M89K	probably benign	Het
Arap2	A	T	5: 62,833,868 (GRCm39)	H866Q	probably damaging	Het
Armh3	T	C	19: 45,939,146 (GRCm39)	T335A	probably benign	Het
Capn12	A	T	7: 28,589,795 (GRCm39)	H622L	probably benign	Het
Capns2	T	G	8: 93,628,530 (GRCm39)	F140V	probably damaging	Het
Catsper1	T	G	19: 5,385,991 (GRCm39)	F75V	probably benign	Het
Ccdc24	T	C	4: 117,729,297 (GRCm39)	N16S	probably benign	Het
Cdkn2aip	A	T	8: 48,165,964 (GRCm39)	L114Q	probably damaging	Het
Cenpe	T	A	3: 134,940,689 (GRCm39)	S649R	probably damaging	Het
Chgb	A	T	2: 132,635,602 (GRCm39)	R515W	probably damaging	Het
Chrnb1	A	G	11: 69,684,804 (GRCm39)	F123S	probably damaging	Het
Copz2	A	T	11: 96,748,377 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Daw1	C	A	1: 83,165,719 (GRCm39)	A178E	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epb41l5	T	C	1: 119,482,801 (GRCm39)	D629G	probably benign	Het
Erap1	A	G	13: 74,838,829 (GRCm39)	E925G	probably benign	Het
Exoc7	A	C	11: 116,180,095 (GRCm39)	F657V	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Homo
Fry	A	G	5: 150,321,719 (GRCm39)	E1018G	probably damaging	Het
Galc	A	T	12: 98,209,027 (GRCm39)	L15*	probably null	Het
Gm11232	T	A	4: 71,675,138 (GRCm39)	K121N	possibly damaging	Het
Hectd1	A	T	12: 51,831,045 (GRCm39)	D931E	probably benign	Het
Hecw2	T	C	1: 53,871,830 (GRCm39)	H1372R	probably benign	Het
Ighv3-2	T	A	12: 113,997,606 (GRCm39)		noncoding transcript	Het
Kcns2	T	G	15: 34,839,751 (GRCm39)	S371R	probably damaging	Het
Kif23	T	C	9: 61,843,985 (GRCm39)	K175E	probably benign	Het
Kmt2c	G	A	5: 25,500,509 (GRCm39)	R436W	possibly damaging	Het
Lama5	A	G	2: 179,835,242 (GRCm39)	S1317P	probably benign	Het
Lce1e	T	C	3: 92,615,135 (GRCm39)	S71G	unknown	Het
Lrrc37a	T	A	11: 103,388,444 (GRCm39)	E2327V	unknown	Het
Map3k20	A	G	2: 72,232,411 (GRCm39)	M356V	probably benign	Het
Med12l	C	T	3: 59,169,350 (GRCm39)	A1580V	probably damaging	Het
Metap2	G	T	10: 93,725,462 (GRCm39)	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,861,207 (GRCm39)	T53S	probably benign	Het
Nasp	A	T	4: 116,459,382 (GRCm39)	D717E	probably damaging	Het
Ndnf	G	A	6: 65,680,555 (GRCm39)	R278H	possibly damaging	Het
Neb	A	T	2: 52,106,273 (GRCm39)	N4205K	probably damaging	Het
Nebl	A	T	2: 17,380,082 (GRCm39)	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,148,313 (GRCm39)	Y131H	probably damaging	Het
Or14c39	A	C	7: 86,343,687 (GRCm39)	T8P	probably benign	Het
Or1e22	A	G	11: 73,377,623 (GRCm39)	I9T	probably benign	Het
Or5l14	G	T	2: 87,793,042 (GRCm39)	H65N	probably benign	Het
Oscp1	T	A	4: 125,970,555 (GRCm39)	C115S	probably benign	Het
Paip2	C	T	18: 35,746,412 (GRCm39)	R59C	possibly damaging	Het
Pate10	T	G	9: 35,653,465 (GRCm39)	F90V	probably benign	Het
Pcdhga4	G	A	18: 37,819,572 (GRCm39)	D374N	probably damaging	Het
Pcolce	G	T	5: 137,603,936 (GRCm39)		probably benign	Het
Pcyox1l	T	C	18: 61,832,468 (GRCm39)	E193G	probably damaging	Het
Pde6b	A	T	5: 108,573,196 (GRCm39)	Q522L	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phf11a	A	G	14: 59,521,887 (GRCm39)	F95L	probably benign	Het
Pja2	A	C	17: 64,616,053 (GRCm39)	S281A	probably benign	Het
Pom121l2	T	C	13: 22,167,984 (GRCm39)	S752P	probably benign	Het
Ppl	T	C	16: 4,906,582 (GRCm39)	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,976,995 (GRCm39)	Y569C	probably damaging	Het
Prss37	G	A	6: 40,493,070 (GRCm39)	T132I	probably benign	Het
Psmf1	A	T	2: 151,571,377 (GRCm39)		probably benign	Het
Ptprj	A	C	2: 90,290,876 (GRCm39)	I528S	probably damaging	Het
Reg1	A	G	6: 78,405,196 (GRCm39)	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,657,217 (GRCm39)	N457S	probably benign	Het
Rusf1	C	T	7: 127,875,645 (GRCm39)		probably benign	Het
Scn9a	T	C	2: 66,396,614 (GRCm39)	K93R	probably benign	Het
Sec16a	A	G	2: 26,329,531 (GRCm39)	V828A	probably benign	Het
Sec23b	T	A	2: 144,423,873 (GRCm39)	D507E	probably benign	Het
Sirt4	A	T	5: 115,620,850 (GRCm39)	F107L	probably benign	Het
Slc14a2	A	T	18: 78,193,616 (GRCm39)	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,208,176 (GRCm39)	S229P	probably benign	Het
Slc37a3	A	T	6: 39,329,651 (GRCm39)	C185*	probably null	Het
Slc5a2	A	T	7: 127,870,982 (GRCm39)	*154C	probably null	Het
Snx17	A	G	5: 31,353,138 (GRCm39)	S42G	possibly damaging	Het
Tgm6	T	C	2: 129,983,113 (GRCm39)	V234A	probably damaging	Het
Thbs4	A	G	13: 92,927,207 (GRCm39)	M94T	probably benign	Het
Thtpa	A	G	14: 55,309,605 (GRCm39)		probably benign	Het
Tie1	T	C	4: 118,340,952 (GRCm39)	E343G	probably damaging	Het
Tmem145	A	G	7: 25,008,027 (GRCm39)	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,685,858 (GRCm39)	S170G	probably benign	Het
Tnk2	T	A	16: 32,499,283 (GRCm39)	D865E	probably damaging	Het
Ttll8	T	C	15: 88,809,785 (GRCm39)	E337G	probably benign	Het
Ttn	G	A	2: 76,697,790 (GRCm39)		probably benign	Het
Tubgcp6	T	C	15: 88,990,494 (GRCm39)	E710G	probably damaging	Het
Txndc2	T	A	17: 65,945,055 (GRCm39)	H374L	probably benign	Het
Unc80	G	T	1: 66,713,891 (GRCm39)		probably null	Het
Vmn2r23	G	A	6: 123,710,308 (GRCm39)	C537Y	probably damaging	Het
Vmn2r45	A	G	7: 8,486,116 (GRCm39)	F391L	probably damaging	Het
Vstm4	A	T	14: 32,641,202 (GRCm39)	T262S	probably benign	Het
Zfp180	C	T	7: 23,805,503 (GRCm39)	R641C	probably damaging	Het
Zfp979	A	T	4: 147,698,371 (GRCm39)	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het
Zswim5	T	A	4: 116,842,883 (GRCm39)	M876K	possibly damaging	Het

Other mutations in Plekhm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Plekhm2	APN	4	141,369,956 (GRCm39)	splice site	probably null
IGL01388:Plekhm2	APN	4	141,369,312 (GRCm39)	missense	probably damaging	1.00
IGL01392:Plekhm2	APN	4	141,369,737 (GRCm39)	missense	probably damaging	0.98
IGL01482:Plekhm2	APN	4	141,357,340 (GRCm39)	missense	probably damaging	0.98
IGL01828:Plekhm2	APN	4	141,356,896 (GRCm39)	missense	probably benign	0.11
IGL02010:Plekhm2	APN	4	141,364,730 (GRCm39)	splice site	probably benign
IGL02075:Plekhm2	APN	4	141,355,617 (GRCm39)	missense	probably benign	0.38
IGL02381:Plekhm2	APN	4	141,370,034 (GRCm39)	missense	possibly damaging	0.95
IGL02543:Plekhm2	APN	4	141,369,330 (GRCm39)	missense	probably benign	0.02
IGL02747:Plekhm2	APN	4	141,361,583 (GRCm39)	missense	possibly damaging	0.55
IGL02802:Plekhm2	APN	4	141,369,835 (GRCm39)	splice site	probably benign
IGL02828:Plekhm2	APN	4	141,356,941 (GRCm39)	missense	probably damaging	1.00
IGL03286:Plekhm2	APN	4	141,361,658 (GRCm39)	missense	possibly damaging	0.95
R0008:Plekhm2	UTSW	4	141,369,704 (GRCm39)	splice site	probably benign
R0008:Plekhm2	UTSW	4	141,369,704 (GRCm39)	splice site	probably benign
R0639:Plekhm2	UTSW	4	141,369,381 (GRCm39)	missense	probably damaging	1.00
R0682:Plekhm2	UTSW	4	141,355,436 (GRCm39)	missense	probably damaging	0.97
R0968:Plekhm2	UTSW	4	141,357,243 (GRCm39)	missense	probably benign	0.01
R1109:Plekhm2	UTSW	4	141,355,295 (GRCm39)	missense	probably benign	0.31
R1475:Plekhm2	UTSW	4	141,355,165 (GRCm39)	missense	possibly damaging	0.75
R1802:Plekhm2	UTSW	4	141,361,658 (GRCm39)	missense	probably benign	0.03
R1813:Plekhm2	UTSW	4	141,369,750 (GRCm39)	missense	possibly damaging	0.93
R1844:Plekhm2	UTSW	4	141,359,685 (GRCm39)	missense	probably benign
R2261:Plekhm2	UTSW	4	141,370,043 (GRCm39)	missense	probably damaging	0.98
R3889:Plekhm2	UTSW	4	141,369,301 (GRCm39)	splice site	probably benign
R3922:Plekhm2	UTSW	4	141,356,843 (GRCm39)	missense	probably benign	0.01
R4324:Plekhm2	UTSW	4	141,359,168 (GRCm39)	missense	possibly damaging	0.86
R4758:Plekhm2	UTSW	4	141,369,316 (GRCm39)	missense	possibly damaging	0.91
R4814:Plekhm2	UTSW	4	141,355,150 (GRCm39)	missense	probably benign	0.00
R5468:Plekhm2	UTSW	4	141,355,411 (GRCm39)	missense	probably damaging	1.00
R5691:Plekhm2	UTSW	4	141,355,600 (GRCm39)	missense	possibly damaging	0.96
R5877:Plekhm2	UTSW	4	141,367,004 (GRCm39)	missense	probably damaging	0.98
R6268:Plekhm2	UTSW	4	141,359,652 (GRCm39)	nonsense	probably null
R6367:Plekhm2	UTSW	4	141,367,016 (GRCm39)	missense	probably damaging	0.97
R6371:Plekhm2	UTSW	4	141,356,843 (GRCm39)	missense	possibly damaging	0.94
R6489:Plekhm2	UTSW	4	141,359,344 (GRCm39)	missense	probably damaging	1.00
R7266:Plekhm2	UTSW	4	141,369,770 (GRCm39)	missense	possibly damaging	0.91
R7399:Plekhm2	UTSW	4	141,361,687 (GRCm39)	missense	probably damaging	1.00
R7573:Plekhm2	UTSW	4	141,358,658 (GRCm39)	missense	probably benign	0.02
R7742:Plekhm2	UTSW	4	141,355,150 (GRCm39)	missense	probably benign	0.00
R7864:Plekhm2	UTSW	4	141,355,357 (GRCm39)	missense	probably damaging	0.96
R7920:Plekhm2	UTSW	4	141,359,432 (GRCm39)	missense	probably damaging	1.00
R8417:Plekhm2	UTSW	4	141,355,136 (GRCm39)	missense	probably benign	0.04
R8462:Plekhm2	UTSW	4	141,367,130 (GRCm39)	missense	probably damaging	1.00
R8504:Plekhm2	UTSW	4	141,369,764 (GRCm39)	missense	probably damaging	1.00
R8851:Plekhm2	UTSW	4	141,358,639 (GRCm39)	missense	probably benign	0.04
R8855:Plekhm2	UTSW	4	141,361,658 (GRCm39)	missense	probably benign	0.03
R9051:Plekhm2	UTSW	4	141,359,732 (GRCm39)	missense	possibly damaging	0.50
R9080:Plekhm2	UTSW	4	141,359,039 (GRCm39)	missense	probably damaging	1.00
R9252:Plekhm2	UTSW	4	141,356,443 (GRCm39)	missense	probably damaging	1.00
R9298:Plekhm2	UTSW	4	141,356,829 (GRCm39)	missense	probably benign
R9383:Plekhm2	UTSW	4	141,359,612 (GRCm39)	missense	probably damaging	1.00
R9463:Plekhm2	UTSW	4	141,357,949 (GRCm39)	missense	probably benign	0.10
T0722:Plekhm2	UTSW	4	141,359,292 (GRCm39)	small deletion	probably benign
T0975:Plekhm2	UTSW	4	141,359,292 (GRCm39)	small deletion	probably benign
X0024:Plekhm2	UTSW	4	141,355,352 (GRCm39)	missense	probably damaging	1.00
Z1177:Plekhm2	UTSW	4	141,367,133 (GRCm39)	missense	possibly damaging	0.73
Z1177:Plekhm2	UTSW	4	141,356,396 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AGAGACATCTCCTGCCCTTG -3'
(R):5'- CCCCTGAGATAAGGCATTCTTTG -3'

Sequencing Primer
(F):5'- GTCTGCCCTGGACTACATAGTAAG -3'
(R):5'- AGATAAGGCATTCTTTGGGGTCCAG -3'

Posted On

2016-05-10