Mutagenetix > Incidental Mutation

Incidental Mutation 'R5724:Plekhh2'

452408

Institutional Source

Beutler Lab

Gene Symbol

Plekhh2

Ensembl Gene

ENSMUSG00000040852

Gene Name

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

Synonyms

MMRRC Submission

043342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84819323-84929566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84874233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 506 (D506G)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

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

AlphaFold

Q8C115

Predicted Effect

probably benign
Transcript: ENSMUST00000047206
AA Change: D506G

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

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: D506G

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830408C21Rik	A	T	13: 107,168,905 (GRCm39)		noncoding transcript	Het
Adam5	T	A	8: 25,294,511 (GRCm39)	K363*	probably null	Het
Adamts12	T	C	15: 11,286,836 (GRCm39)	Y814H	probably benign	Het
Adar	G	T	3: 89,642,476 (GRCm39)	G119V	probably benign	Het
Adprs	G	T	4: 126,211,869 (GRCm39)	Q148K	probably damaging	Het
Atr	G	T	9: 95,748,641 (GRCm39)	L395F	probably damaging	Het
Bahcc1	A	G	11: 120,176,192 (GRCm39)	I1946V	possibly damaging	Het
Bend4	T	A	5: 67,575,284 (GRCm39)	D199V	probably damaging	Het
Bpifb1	C	A	2: 154,046,712 (GRCm39)	H77Q	probably benign	Het
Clca3a1	T	C	3: 144,714,833 (GRCm39)	T595A	probably benign	Het
Crebbp	A	T	16: 3,905,499 (GRCm39)		probably benign	Het
Cxcl16	T	C	11: 70,349,990 (GRCm39)	D12G	probably damaging	Het
Dnah10	T	C	5: 124,819,090 (GRCm39)	W459R	probably benign	Het
Dock8	T	C	19: 25,099,785 (GRCm39)	L636P	probably damaging	Het
Eif2ak3	A	G	6: 70,853,824 (GRCm39)	T197A	probably benign	Het
Fbxo40	T	A	16: 36,790,692 (GRCm39)	R139S	probably benign	Het
Fer	C	A	17: 64,231,152 (GRCm39)	T301K	probably damaging	Het
Fgf21	A	T	7: 45,264,729 (GRCm39)	M1K	probably null	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm38706	A	T	6: 130,459,963 (GRCm39)		noncoding transcript	Het
H2-Q6	A	C	17: 35,644,628 (GRCm39)	Y139S	probably damaging	Het
Ift70a2	T	C	2: 75,808,074 (GRCm39)	D146G	probably benign	Het
Igkv4-53	A	T	6: 69,625,991 (GRCm39)	Y59N	probably damaging	Het
Jrkl	T	C	9: 13,244,891 (GRCm39)	M257V	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Klhl26	T	A	8: 70,904,404 (GRCm39)	Y468F	probably damaging	Het
Lamb2	T	A	9: 108,357,950 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,464,422 (GRCm39)	T548A	probably benign	Het
Lct	T	A	1: 128,228,073 (GRCm39)	Q1140L	probably benign	Het
Lrp2	T	G	2: 69,281,726 (GRCm39)	N3882H	probably damaging	Het
Magi1	A	G	6: 93,657,852 (GRCm39)	I1126T	probably benign	Het
Magi1	A	G	6: 93,722,682 (GRCm39)	S399P	probably damaging	Het
Med16	A	G	10: 79,731,243 (GRCm39)	C825R	probably damaging	Het
Mtx3	C	T	13: 92,984,095 (GRCm39)	P124L	probably damaging	Het
Nabp2	C	T	10: 128,245,555 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,342,515 (GRCm39)	H174Q	possibly damaging	Het
Pak4	A	T	7: 28,264,005 (GRCm39)	S244T	possibly damaging	Het
Pccb	C	T	9: 100,869,900 (GRCm39)	V307I	probably benign	Het
Plk4	T	C	3: 40,755,481 (GRCm39)	V26A	probably damaging	Het
Ppp2r3c	A	T	12: 55,344,617 (GRCm39)	M117K	probably benign	Het
Pramel21	A	G	4: 143,344,026 (GRCm39)	D442G	probably benign	Het
Pspc1	C	T	14: 57,015,529 (GRCm39)	E30K	probably benign	Het
Reps1	A	G	10: 17,990,231 (GRCm39)	S448G	possibly damaging	Het
Rnf34	C	T	5: 123,004,952 (GRCm39)	Q241*	probably null	Het
Sgta	A	T	10: 80,883,522 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Siglech	A	G	7: 55,418,293 (GRCm39)	N87S	probably damaging	Het
Sptbn1	A	G	11: 30,094,113 (GRCm39)	I392T	possibly damaging	Het
St18	T	A	1: 6,841,174 (GRCm39)	M21K	probably benign	Het
Sugp1	C	T	8: 70,522,799 (GRCm39)	R500C	probably damaging	Het
Tasp1	T	C	2: 139,899,339 (GRCm39)	K5E	probably damaging	Het
Tbx3	G	A	5: 119,813,668 (GRCm39)	V235I	possibly damaging	Het
Toporsl	A	T	4: 52,611,346 (GRCm39)	N413I	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Zfp60	A	G	7: 27,447,758 (GRCm39)	Y142C	probably benign	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
IGL02163:Plekhh2	APN	17	84,898,223 (GRCm39)	missense	probably benign	0.45
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
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

Predicted Primers

PCR Primer
(F):5'- CTAACTCACTCCCTGGAAAAGG -3'
(R):5'- TGAGTCTGTGCTGAGAACAGG -3'

Sequencing Primer
(F):5'- GGGTCCCCAACGTTTTCAGTATAAG -3'
(R):5'- TGAGAACAGGCCCCTGAG -3'

Posted On

2017-01-03