Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02163:Plekhh2'

282536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhh2

Ensembl Gene

ENSMUSG00000040852

Gene Name

pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL02163

Quality Score

Status

Chromosome

Chromosomal Location

84819323-84929566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84898223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 955 (S955C)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047206]

AlphaFold

Q8C115

Predicted Effect

probably benign
Transcript: ENSMUST00000047206
AA Change: S955C

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: S955C

Domain	Start	End	E-Value	Type
coiled coil region	19	84	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
coiled coil region	137	174	N/A	INTRINSIC
low complexity region	427	442	N/A	INTRINSIC
low complexity region	579	593	N/A	INTRINSIC
low complexity region	612	651	N/A	INTRINSIC
low complexity region	657	666	N/A	INTRINSIC
PH	703	798	4.7e-19	SMART
PH	811	920	1.15e-4	SMART
MyTH4	954	1109	8.49e-39	SMART
B41	1116	1353	1.01e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	T	C	15: 37,439,852 (GRCm39)		probably benign	Het
Armh4	A	G	14: 50,011,614 (GRCm39)	V31A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cap1	C	T	4: 122,756,209 (GRCm39)	V396I	probably benign	Het
Ccdc80	T	C	16: 44,916,477 (GRCm39)	V411A	probably benign	Het
Cyp2w1	T	A	5: 139,341,920 (GRCm39)	M111K	probably damaging	Het
Dop1b	T	C	16: 93,559,315 (GRCm39)	V687A	possibly damaging	Het
Fam184a	T	C	10: 53,523,230 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,595,859 (GRCm39)	F342S	possibly damaging	Het
Foxred1	A	T	9: 35,117,192 (GRCm39)	L313H	probably damaging	Het
Gm38392	G	A	3: 88,152,887 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,733,109 (GRCm39)		probably benign	Het
Lrpprc	A	T	17: 85,060,900 (GRCm39)	M591K	probably damaging	Het
Ncr1	A	T	7: 4,344,262 (GRCm39)	S217C	possibly damaging	Het
Or10al7	T	C	17: 38,365,641 (GRCm39)	H281R	probably benign	Het
Or1e1	T	A	11: 73,245,320 (GRCm39)	V247E	probably damaging	Het
Pds5b	T	C	5: 150,679,871 (GRCm39)	F526L	probably benign	Het
Prpf19	T	A	19: 10,879,800 (GRCm39)	S307R	probably benign	Het
Pwp2	G	A	10: 78,014,119 (GRCm39)	P456S	possibly damaging	Het
Rgs8	C	A	1: 153,547,511 (GRCm39)	T47K	possibly damaging	Het
Samd9l	T	A	6: 3,374,246 (GRCm39)	N1005I	possibly damaging	Het
Tmc4	A	G	7: 3,669,824 (GRCm39)	L20P	probably damaging	Het
Ttc21a	C	T	9: 119,779,901 (GRCm39)	Q403*	probably null	Het
Zbtb43	T	C	2: 33,343,795 (GRCm39)	R477G	possibly damaging	Het

Other mutations in Plekhh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Plekhh2	APN	17	84,829,203 (GRCm39)	missense	probably benign	0.00
IGL00514:Plekhh2	APN	17	84,903,734 (GRCm39)	critical splice donor site	probably null
IGL00773:Plekhh2	APN	17	84,914,296 (GRCm39)	missense	probably benign	0.01
IGL00985:Plekhh2	APN	17	84,871,356 (GRCm39)	missense	probably benign	0.00
IGL01116:Plekhh2	APN	17	84,914,356 (GRCm39)	missense	possibly damaging	0.94
IGL01394:Plekhh2	APN	17	84,864,858 (GRCm39)	missense	probably benign	0.24
IGL01419:Plekhh2	APN	17	84,890,980 (GRCm39)	splice site	probably benign
IGL01932:Plekhh2	APN	17	84,884,689 (GRCm39)	missense	probably benign	0.00
IGL02097:Plekhh2	APN	17	84,906,608 (GRCm39)	missense	possibly damaging	0.69
IGL02157:Plekhh2	APN	17	84,874,370 (GRCm39)	splice site	probably benign
IGL02237:Plekhh2	APN	17	84,883,213 (GRCm39)	missense	probably benign	0.00
IGL02322:Plekhh2	APN	17	84,896,894 (GRCm39)	nonsense	probably null
IGL02422:Plekhh2	APN	17	84,871,237 (GRCm39)	splice site	probably benign
IGL02483:Plekhh2	APN	17	84,903,688 (GRCm39)	missense	possibly damaging	0.81
IGL02493:Plekhh2	APN	17	84,914,391 (GRCm39)	critical splice donor site	probably null
IGL03007:Plekhh2	APN	17	84,882,388 (GRCm39)	missense	possibly damaging	0.65
R0003:Plekhh2	UTSW	17	84,864,820 (GRCm39)	missense	probably damaging	1.00
R0005:Plekhh2	UTSW	17	84,893,861 (GRCm39)	missense	probably benign	0.16
R0099:Plekhh2	UTSW	17	84,899,100 (GRCm39)	nonsense	probably null
R0331:Plekhh2	UTSW	17	84,893,794 (GRCm39)	missense	possibly damaging	0.81
R0883:Plekhh2	UTSW	17	84,925,459 (GRCm39)	missense	probably benign	0.11
R1051:Plekhh2	UTSW	17	84,829,255 (GRCm39)	critical splice donor site	probably null
R1084:Plekhh2	UTSW	17	84,878,554 (GRCm39)	missense	probably damaging	0.99
R1351:Plekhh2	UTSW	17	84,884,574 (GRCm39)	splice site	probably benign
R1459:Plekhh2	UTSW	17	84,918,203 (GRCm39)	nonsense	probably null
R1469:Plekhh2	UTSW	17	84,883,199 (GRCm39)	missense	probably benign	0.03
R1469:Plekhh2	UTSW	17	84,883,199 (GRCm39)	missense	probably benign	0.03
R1510:Plekhh2	UTSW	17	84,867,004 (GRCm39)	splice site	probably null
R1699:Plekhh2	UTSW	17	84,884,612 (GRCm39)	nonsense	probably null
R1738:Plekhh2	UTSW	17	84,874,125 (GRCm39)	missense	possibly damaging	0.67
R1773:Plekhh2	UTSW	17	84,906,693 (GRCm39)	missense	probably damaging	1.00
R1796:Plekhh2	UTSW	17	84,906,561 (GRCm39)	critical splice acceptor site	probably null
R1823:Plekhh2	UTSW	17	84,882,617 (GRCm39)	missense	probably damaging	1.00
R1998:Plekhh2	UTSW	17	84,914,305 (GRCm39)	missense	possibly damaging	0.58
R2437:Plekhh2	UTSW	17	84,893,907 (GRCm39)	splice site	probably null
R2847:Plekhh2	UTSW	17	84,905,394 (GRCm39)	missense	probably damaging	1.00
R4088:Plekhh2	UTSW	17	84,925,427 (GRCm39)	missense	probably benign	0.10
R4227:Plekhh2	UTSW	17	84,874,223 (GRCm39)	missense	probably benign	0.00
R4249:Plekhh2	UTSW	17	84,893,765 (GRCm39)	missense	possibly damaging	0.93
R4347:Plekhh2	UTSW	17	84,927,130 (GRCm39)	missense	probably benign	0.12
R4562:Plekhh2	UTSW	17	84,873,525 (GRCm39)	missense	probably benign	0.00
R4649:Plekhh2	UTSW	17	84,882,691 (GRCm39)	missense	probably damaging	1.00
R4737:Plekhh2	UTSW	17	84,871,387 (GRCm39)	missense	probably benign
R4743:Plekhh2	UTSW	17	84,878,548 (GRCm39)	missense	probably damaging	1.00
R4858:Plekhh2	UTSW	17	84,908,125 (GRCm39)	missense	probably damaging	1.00
R5036:Plekhh2	UTSW	17	84,879,189 (GRCm39)	missense	probably damaging	0.99
R5260:Plekhh2	UTSW	17	84,884,593 (GRCm39)	missense	probably damaging	0.99
R5385:Plekhh2	UTSW	17	84,864,894 (GRCm39)	missense	probably benign	0.00
R5409:Plekhh2	UTSW	17	84,893,906 (GRCm39)	critical splice donor site	probably null
R5510:Plekhh2	UTSW	17	84,874,275 (GRCm39)	missense	probably benign
R5557:Plekhh2	UTSW	17	84,867,580 (GRCm39)	missense	probably benign	0.10
R5684:Plekhh2	UTSW	17	84,905,346 (GRCm39)	missense	probably damaging	1.00
R5685:Plekhh2	UTSW	17	84,877,310 (GRCm39)	missense	probably damaging	1.00
R5724:Plekhh2	UTSW	17	84,874,233 (GRCm39)	missense	probably benign	0.00
R5742:Plekhh2	UTSW	17	84,905,408 (GRCm39)	missense	probably damaging	1.00
R5817:Plekhh2	UTSW	17	84,879,154 (GRCm39)	missense	possibly damaging	0.86
R6218:Plekhh2	UTSW	17	84,898,992 (GRCm39)	missense	probably benign	0.03
R6334:Plekhh2	UTSW	17	84,874,294 (GRCm39)	missense	probably benign
R6345:Plekhh2	UTSW	17	84,883,215 (GRCm39)	missense	probably benign	0.01
R6617:Plekhh2	UTSW	17	84,873,715 (GRCm39)	missense	possibly damaging	0.65
R6755:Plekhh2	UTSW	17	84,899,013 (GRCm39)	missense	probably damaging	1.00
R6864:Plekhh2	UTSW	17	84,925,427 (GRCm39)	missense	probably benign	0.10
R7171:Plekhh2	UTSW	17	84,829,216 (GRCm39)	missense	probably damaging	0.96
R7413:Plekhh2	UTSW	17	84,873,724 (GRCm39)	missense	probably benign	0.03
R7585:Plekhh2	UTSW	17	84,884,608 (GRCm39)	missense	probably benign	0.11
R7640:Plekhh2	UTSW	17	84,918,204 (GRCm39)	missense	possibly damaging	0.50
R7733:Plekhh2	UTSW	17	84,890,952 (GRCm39)	nonsense	probably null
R7877:Plekhh2	UTSW	17	84,882,434 (GRCm39)	missense	probably benign
R8085:Plekhh2	UTSW	17	84,905,384 (GRCm39)	missense	probably damaging	0.98
R8206:Plekhh2	UTSW	17	84,898,277 (GRCm39)	missense	possibly damaging	0.47
R8296:Plekhh2	UTSW	17	84,908,113 (GRCm39)	missense	probably damaging	0.98
R8344:Plekhh2	UTSW	17	84,879,189 (GRCm39)	missense	possibly damaging	0.64
R8438:Plekhh2	UTSW	17	84,877,379 (GRCm39)	missense	probably benign
R8487:Plekhh2	UTSW	17	84,864,909 (GRCm39)	missense	possibly damaging	0.55
R8708:Plekhh2	UTSW	17	84,882,421 (GRCm39)	missense	probably benign	0.00
R8830:Plekhh2	UTSW	17	84,829,231 (GRCm39)	missense	probably damaging	1.00
R8847:Plekhh2	UTSW	17	84,878,479 (GRCm39)	missense	probably benign	0.00
R8918:Plekhh2	UTSW	17	84,906,621 (GRCm39)	missense	possibly damaging	0.80
R9047:Plekhh2	UTSW	17	84,898,190 (GRCm39)	missense	probably damaging	0.99
R9404:Plekhh2	UTSW	17	84,878,468 (GRCm39)	critical splice acceptor site	probably null
R9428:Plekhh2	UTSW	17	84,873,841 (GRCm39)	missense	probably benign
R9516:Plekhh2	UTSW	17	84,918,240 (GRCm39)	missense	probably benign	0.00
R9559:Plekhh2	UTSW	17	84,899,017 (GRCm39)	missense	probably damaging	1.00
R9589:Plekhh2	UTSW	17	84,854,918 (GRCm39)	missense	possibly damaging	0.90
R9641:Plekhh2	UTSW	17	84,874,130 (GRCm39)	missense	probably damaging	1.00
R9659:Plekhh2	UTSW	17	84,854,892 (GRCm39)	missense	possibly damaging	0.95
R9788:Plekhh2	UTSW	17	84,854,892 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16