Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Plekhm2'

586140

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

045659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141353043-141391457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141358658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 616 (N616D)

Ref Sequence

ENSEMBL: ENSMUSP00000030751 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030751
AA Change: N616D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: N616D

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 benign
Transcript: ENSMUST00000084203
AA Change: N636D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: N636D

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

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	probably benign	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
R4983:Plekhm2	UTSW	4	141,361,687 (GRCm39)	missense	probably damaging	1.00
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
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'- TTAGTGAAGACCCAGCCCTC -3'
(R):5'- CAGTTGTTCAAAGTAAGTCCCCG -3'

Sequencing Primer
(F):5'- CCCGCAACAGGAAGTGACTG -3'
(R):5'- GTTCAAAGTAAGTCCCCGAACCG -3'

Posted On

2019-10-24