Mutagenetix > Incidental Mutation

Incidental Mutation 'R9788:Plekhh2'

734477

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

Accession Numbers

Essential gene?

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

Stock #

R9788 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84819323-84929566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84854892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 42 (M42K)

Ref Sequence

ENSEMBL: ENSMUSP00000039628 (fasta)

Gene Model

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

AlphaFold

Q8C115

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047206
AA Change: M42K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: M42K

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

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,192,253 (GRCm39)	M753K	probably damaging	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Bmp8b	A	G	4: 122,999,369 (GRCm39)	M76V	probably damaging	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cfh	T	C	1: 140,036,499 (GRCm39)	I702V	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cntln	G	A	4: 84,968,093 (GRCm39)	V771M	probably damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hmcn1	T	C	1: 150,528,333 (GRCm39)	I3272V	probably benign	Het
Izumo3	A	G	4: 92,035,037 (GRCm39)	I60T	probably benign	Het
Jakmip2	T	A	18: 43,704,927 (GRCm39)	N358I	probably damaging	Het
Klra9	T	A	6: 130,159,385 (GRCm39)	K209N	possibly damaging	Het
Ldah	A	T	12: 8,333,946 (GRCm39)	Y279F	possibly damaging	Het
Lrrcc1	T	A	3: 14,602,286 (GRCm39)	H126Q	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Mms22l	A	G	4: 24,586,204 (GRCm39)	T859A	probably benign	Het
Mogat1	A	G	1: 78,499,342 (GRCm39)	M39V	probably benign	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Nab1	T	C	1: 52,529,166 (GRCm39)	K244E	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Obscn	A	G	11: 58,969,678 (GRCm39)	V2426A	possibly damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or11l3	T	A	11: 58,516,692 (GRCm39)	Y60F	probably benign	Het
Or1e31	T	C	11: 73,689,768 (GRCm39)	T272A	probably benign	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Osbpl3	A	G	6: 50,324,344 (GRCm39)		probably null	Het
Otop3	T	A	11: 115,235,087 (GRCm39)	C259S	unknown	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Phf21a	T	C	2: 92,181,978 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhm3	T	C	1: 64,961,422 (GRCm39)	D278G	possibly damaging	Het
Plod3	A	G	5: 137,019,911 (GRCm39)	Y447C	probably damaging	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptprq	A	T	10: 107,401,751 (GRCm39)	C1914S	probably benign	Het
Rai1	A	G	11: 60,078,080 (GRCm39)	T715A	possibly damaging	Het
Rsad2	G	A	12: 26,500,577 (GRCm39)	H237Y	probably benign	Het
Sarm1	A	G	11: 78,378,863 (GRCm39)	L394P	probably damaging	Het
Scube1	A	G	15: 83,535,901 (GRCm39)	S258P	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Son	TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	16: 91,453,699 (GRCm39)		probably benign	Het
Synrg	A	T	11: 83,877,781 (GRCm39)	H342L	probably benign	Het
Tenm3	T	C	8: 48,788,596 (GRCm39)	Y478C	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Zfp616	G	A	11: 73,975,276 (GRCm39)	G515D	probably damaging	Het
Zfp786	A	G	6: 47,797,816 (GRCm39)	L374P	probably benign	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCAGTGTCCAAAGTATCAAGAC -3'
(R):5'- CAGGGAAAGACTGGCGTATACTC -3'

Sequencing Primer
(F):5'- GTGTCCAAAGTATCAAGACCTTCATC -3'
(R):5'- CTCTTTGTACGCATAGAGGCAG -3'

Posted On

2022-11-14