Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Plekhg3'

576843

Institutional Source

Beutler Lab

Gene Symbol

Plekhg3

Ensembl Gene

ENSMUSG00000052609

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 3

Synonyms

MGC40768

MMRRC Submission

045515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76580330-76627265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76623259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 834 (D834G)

Ref Sequence

ENSEMBL: ENSMUSP00000074729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021458] [ENSMUST00000075249] [ENSMUST00000219063]

AlphaFold

Q4VAC9

Predicted Effect

probably benign
Transcript: ENSMUST00000021458

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061

Domain	Start	End	E-Value	Type
CH	56	156	2.73e-26	SMART
CH	175	273	4.57e-28	SMART
SPEC	305	411	2.71e0	SMART
SPEC	425	525	4.65e-23	SMART
SPEC	531	634	4.51e-21	SMART
SPEC	640	740	3.02e-31	SMART
SPEC	746	845	1.47e-20	SMART
SPEC	851	951	1.04e-20	SMART
SPEC	957	1058	7.22e-20	SMART
SPEC	1064	1165	2.06e-24	SMART
SPEC	1171	1271	3.84e-15	SMART
SPEC	1277	1376	2.22e-20	SMART
SPEC	1382	1475	5.04e-10	SMART
SPEC	1481	1581	3.58e-24	SMART
SPEC	1587	1687	4.11e-24	SMART
SPEC	1693	1794	2.91e-24	SMART
SPEC	1800	1900	7.8e-16	SMART
SPEC	1906	2006	3.16e-25	SMART
SPEC	2012	2193	4.32e-9	SMART
PH	2180	2291	8.98e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000075249
AA Change: D834G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: D834G

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
RhoGEF	97	271	6.67e-51	SMART
PH	297	396	2.48e-9	SMART
coiled coil region	515	552	N/A	INTRINSIC
low complexity region	563	585	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
low complexity region	727	737	N/A	INTRINSIC
low complexity region	753	766	N/A	INTRINSIC
low complexity region	978	993	N/A	INTRINSIC
low complexity region	1233	1246	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000219063
AA Change: D833G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,332 (GRCm39)	D273G	probably damaging	Het
Acacb	T	C	5: 114,333,703 (GRCm39)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,647,187 (GRCm39)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,604,931 (GRCm39)	F119L	probably benign	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bcl3	T	C	7: 19,556,536 (GRCm39)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,070,853 (GRCm39)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,188,478 (GRCm39)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,648,879 (GRCm39)		probably null	Het
Dnaaf5	T	G	5: 139,151,868 (GRCm39)	C506W	probably damaging	Het
Dock3	A	G	9: 106,900,931 (GRCm39)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,621,624 (GRCm39)	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,360,478 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,090,718 (GRCm39)	D1192A	probably benign	Het
Epn2	A	T	11: 61,437,674 (GRCm39)		probably benign	Het
Exoc1	T	A	5: 76,693,195 (GRCm39)	N360K	probably benign	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Hapln3	T	A	7: 78,767,017 (GRCm39)	T341S	probably benign	Het
Lamb3	C	A	1: 193,014,474 (GRCm39)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,578,349 (GRCm39)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,050,380 (GRCm39)	M791V	probably benign	Het
Lyg2	A	G	1: 37,950,218 (GRCm39)	Y37H	possibly damaging	Het
Lyz3	G	A	10: 117,074,602 (GRCm39)		probably benign	Het
Nrbp1	T	A	5: 31,402,300 (GRCm39)	M172K	probably damaging	Het
Or2l13b	T	G	16: 19,349,650 (GRCm39)	S7R	probably benign	Het
Or4c126	A	G	2: 89,824,183 (GRCm39)	I149V	probably benign	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pcyt2	A	T	11: 120,502,209 (GRCm39)	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phf21b	A	G	15: 84,689,104 (GRCm39)	S141P	probably damaging	Het
Pigh	G	A	12: 79,136,324 (GRCm39)	P24S	probably benign	Het
Plekhg5	T	A	4: 152,198,392 (GRCm39)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm39)	I170T	probably damaging	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,601,851 (GRCm39)	H196L	probably benign	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,422,187 (GRCm39)	Y489C	probably damaging	Het
Sis	G	A	3: 72,816,374 (GRCm39)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,220,064 (GRCm39)	V467A	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Sucnr1	A	G	3: 59,994,117 (GRCm39)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,266,394 (GRCm39)	A594V	probably damaging	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,017,812 (GRCm39)		probably null	Het
Taok3	C	A	5: 117,388,974 (GRCm39)	Q460K	probably damaging	Het
Tasor	T	A	14: 27,193,602 (GRCm39)	V934E	probably damaging	Het
Twf2	A	G	9: 106,091,597 (GRCm39)	E268G	probably damaging	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,820,013 (GRCm39)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Vps13d	A	G	4: 144,832,426 (GRCm39)	S2833P		Het
Xrn1	T	C	9: 95,933,682 (GRCm39)	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,813,224 (GRCm39)	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,781,132 (GRCm39)	R327*	probably null	Het

Other mutations in Plekhg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Plekhg3	APN	12	76,609,052 (GRCm39)	missense	possibly damaging	0.78
IGL01143:Plekhg3	APN	12	76,611,756 (GRCm39)	critical splice donor site	probably null
IGL02079:Plekhg3	APN	12	76,607,203 (GRCm39)	missense	probably benign	0.01
IGL02349:Plekhg3	APN	12	76,609,074 (GRCm39)	missense	probably damaging	1.00
IGL02442:Plekhg3	APN	12	76,625,127 (GRCm39)	missense	probably benign	0.01
IGL02570:Plekhg3	APN	12	76,625,019 (GRCm39)	missense	probably benign
flagging	UTSW	12	76,607,294 (GRCm39)	critical splice donor site	probably null
R0667_Plekhg3_072	UTSW	12	76,623,372 (GRCm39)	missense	probably damaging	1.00
trailing	UTSW	12	76,611,735 (GRCm39)	missense	probably benign	0.15
R0344:Plekhg3	UTSW	12	76,613,040 (GRCm39)	nonsense	probably null
R0667:Plekhg3	UTSW	12	76,623,372 (GRCm39)	missense	probably damaging	1.00
R1269:Plekhg3	UTSW	12	76,607,243 (GRCm39)	missense	probably damaging	1.00
R1566:Plekhg3	UTSW	12	76,618,839 (GRCm39)	missense	possibly damaging	0.54
R1905:Plekhg3	UTSW	12	76,622,991 (GRCm39)	missense	probably benign	0.05
R2885:Plekhg3	UTSW	12	76,611,735 (GRCm39)	missense	probably benign	0.15
R2962:Plekhg3	UTSW	12	76,619,433 (GRCm39)	critical splice donor site	probably null
R3784:Plekhg3	UTSW	12	76,607,294 (GRCm39)	critical splice donor site	probably null
R3941:Plekhg3	UTSW	12	76,620,133 (GRCm39)	missense	probably damaging	0.98
R4056:Plekhg3	UTSW	12	76,612,021 (GRCm39)	missense	probably damaging	1.00
R4080:Plekhg3	UTSW	12	76,624,755 (GRCm39)	missense	probably benign	0.02
R4412:Plekhg3	UTSW	12	76,624,538 (GRCm39)	missense	probably damaging	0.96
R4413:Plekhg3	UTSW	12	76,624,538 (GRCm39)	missense	probably damaging	0.96
R4704:Plekhg3	UTSW	12	76,625,012 (GRCm39)	missense	probably damaging	1.00
R4720:Plekhg3	UTSW	12	76,625,096 (GRCm39)	missense	possibly damaging	0.59
R4738:Plekhg3	UTSW	12	76,623,688 (GRCm39)	missense	probably damaging	1.00
R4898:Plekhg3	UTSW	12	76,610,899 (GRCm39)	missense	probably damaging	1.00
R4994:Plekhg3	UTSW	12	76,612,311 (GRCm39)	missense	possibly damaging	0.68
R4999:Plekhg3	UTSW	12	76,612,021 (GRCm39)	missense	possibly damaging	0.95
R5484:Plekhg3	UTSW	12	76,625,174 (GRCm39)	missense	possibly damaging	0.76
R5591:Plekhg3	UTSW	12	76,607,066 (GRCm39)	missense	possibly damaging	0.80
R6019:Plekhg3	UTSW	12	76,624,715 (GRCm39)	nonsense	probably null
R6147:Plekhg3	UTSW	12	76,611,985 (GRCm39)	missense	probably damaging	0.96
R6272:Plekhg3	UTSW	12	76,623,619 (GRCm39)	missense	probably benign	0.00
R6482:Plekhg3	UTSW	12	76,622,778 (GRCm39)	missense	probably benign	0.01
R7081:Plekhg3	UTSW	12	76,625,019 (GRCm39)	missense	probably benign
R7349:Plekhg3	UTSW	12	76,611,339 (GRCm39)	missense	probably benign	0.45
R7449:Plekhg3	UTSW	12	76,612,996 (GRCm39)	missense	probably damaging	0.98
R7879:Plekhg3	UTSW	12	76,612,343 (GRCm39)	missense	probably damaging	1.00
R8256:Plekhg3	UTSW	12	76,609,041 (GRCm39)	missense	probably damaging	0.98
R8298:Plekhg3	UTSW	12	76,623,852 (GRCm39)	missense	probably damaging	1.00
R8492:Plekhg3	UTSW	12	76,622,790 (GRCm39)	missense	probably benign
R8886:Plekhg3	UTSW	12	76,611,748 (GRCm39)	missense	possibly damaging	0.81
R9090:Plekhg3	UTSW	12	76,622,694 (GRCm39)	missense	probably benign
R9117:Plekhg3	UTSW	12	76,624,905 (GRCm39)	missense	probably benign
R9220:Plekhg3	UTSW	12	76,618,839 (GRCm39)	missense	probably benign	0.18
R9271:Plekhg3	UTSW	12	76,622,694 (GRCm39)	missense	probably benign
R9294:Plekhg3	UTSW	12	76,609,052 (GRCm39)	missense	possibly damaging	0.78
R9394:Plekhg3	UTSW	12	76,623,862 (GRCm39)	missense	probably damaging	0.99
R9468:Plekhg3	UTSW	12	76,607,009 (GRCm39)	missense	probably damaging	0.98
R9711:Plekhg3	UTSW	12	76,611,726 (GRCm39)	missense	possibly damaging	0.83
R9747:Plekhg3	UTSW	12	76,611,367 (GRCm39)	missense	probably damaging	1.00
X0062:Plekhg3	UTSW	12	76,620,117 (GRCm39)	missense	possibly damaging	0.89
Z1176:Plekhg3	UTSW	12	76,622,630 (GRCm39)	critical splice acceptor site	probably null
Z1177:Plekhg3	UTSW	12	76,625,102 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGGACACCACGGCTTATC -3'
(R):5'- CTTGTACCCAACTGGAGCTG -3'

Sequencing Primer
(F):5'- TTATCAGCCGGAGCAGCAGTG -3'
(R):5'- CTGCTGGCTCTGAATCTGGC -3'

Posted On

2019-10-07