Mutagenetix > Incidental Mutation

Incidental Mutation 'R6816:Lhpp'

537336

Institutional Source

Beutler Lab

Gene Symbol

Lhpp

Ensembl Gene

ENSMUSG00000030946

Gene Name

phospholysine phosphohistidine inorganic pyrophosphate phosphatase

Synonyms

2310007H09Rik

MMRRC Submission

044928-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R6816 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132212367-132308149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132235762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 116 (S116P)

Ref Sequence

ENSEMBL: ENSMUSP00000033241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033241] [ENSMUST00000106170] [ENSMUST00000124096] [ENSMUST00000148669]

AlphaFold

Q9D7I5

Predicted Effect

probably benign
Transcript: ENSMUST00000033241
AA Change: S116P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033241
Gene: ENSMUSG00000030946
AA Change: S116P

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	11	227	1.1e-8	PFAM
Pfam:Hydrolase_6	14	116	4.4e-17	PFAM
Pfam:HAD_2	159	233	3.4e-9	PFAM
Pfam:Hydrolase_like	186	260	9.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106170
AA Change: S116P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133969

Predicted Effect

probably benign
Transcript: ENSMUST00000148669

Meta Mutation Damage Score

0.1639

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,668,311 (GRCm39)	T458A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ankrd36	T	G	11: 5,593,765 (GRCm39)	F457V	possibly damaging	Het
Cep152	T	C	2: 125,436,947 (GRCm39)	E531G	probably damaging	Het
Dpf1	A	C	7: 29,011,087 (GRCm39)	D162A	possibly damaging	Het
E2f8	A	T	7: 48,525,331 (GRCm39)	Y214N	possibly damaging	Het
Fer1l5	A	T	1: 36,445,591 (GRCm39)	Y786F	possibly damaging	Het
Fhod1	G	T	8: 106,057,176 (GRCm39)	Q933K	probably benign	Het
Gdap2	T	C	3: 100,099,021 (GRCm39)		probably null	Het
Grin2d	A	G	7: 45,483,106 (GRCm39)		probably benign	Het
H2bc22	C	T	13: 21,971,947 (GRCm39)	S88L	probably benign	Het
Hgs	T	A	11: 120,362,397 (GRCm39)	V112D	probably damaging	Het
Igf2r	A	T	17: 12,932,969 (GRCm39)	V851E	probably damaging	Het
Igfn1	T	A	1: 135,887,466 (GRCm39)	T2533S	probably benign	Het
Iqch	C	T	9: 63,388,041 (GRCm39)	V750I	probably benign	Het
Itih2	A	G	2: 10,110,517 (GRCm39)	Y525H	probably damaging	Het
Kcnu1	C	T	8: 26,427,762 (GRCm39)	Q360*	probably null	Het
Klk1b26	A	G	7: 43,666,292 (GRCm39)	N245S	probably benign	Het
Kmt2c	T	C	5: 25,610,530 (GRCm39)		probably null	Het
Madcam1	A	G	10: 79,501,274 (GRCm39)	D113G	probably damaging	Het
Magi3	A	T	3: 103,997,227 (GRCm39)		probably null	Het
Map3k9	A	G	12: 81,769,028 (GRCm39)	S1007P	possibly damaging	Het
Mkrn2	C	T	6: 115,588,689 (GRCm39)	P144L	probably damaging	Het
Mon1a	T	C	9: 107,777,609 (GRCm39)	S171P	probably damaging	Het
Nrarp	T	C	2: 25,071,319 (GRCm39)	L66P	probably damaging	Het
P2ry1	T	A	3: 60,911,253 (GRCm39)	F131I	probably benign	Het
Pdzk1	A	G	3: 96,761,886 (GRCm39)	Q166R	probably benign	Het
Pigt	G	T	2: 164,343,052 (GRCm39)	V249F	probably damaging	Het
Ppp1r16b	G	T	2: 158,603,595 (GRCm39)	V407L	probably benign	Het
Pramel58	A	T	5: 94,831,773 (GRCm39)	Q260L	possibly damaging	Het
Rab6a	G	T	7: 100,279,080 (GRCm39)	E73D	probably damaging	Het
Ralb	C	A	1: 119,405,712 (GRCm39)	G33*	probably null	Het
Sema3b	T	A	9: 107,477,549 (GRCm39)	M491L	probably benign	Het
Sema3c	A	C	5: 17,875,463 (GRCm39)	D40A	probably benign	Het
Slc22a1	T	C	17: 12,871,370 (GRCm39)	N464D	possibly damaging	Het
Spire2	T	A	8: 124,086,152 (GRCm39)	S295T	probably benign	Het
Stat3	T	G	11: 100,802,093 (GRCm39)	Q32P	probably damaging	Het
Sulf2	T	C	2: 165,924,674 (GRCm39)	T471A	probably benign	Het
Sult2b1	A	G	7: 45,383,102 (GRCm39)	W227R	probably damaging	Het
Syt2	T	A	1: 134,673,538 (GRCm39)	I294N	probably damaging	Het
Taar8b	A	T	10: 23,968,079 (GRCm39)	F38L	probably benign	Het
Tbl2	T	A	5: 135,188,069 (GRCm39)		probably null	Het
Tex48	G	A	4: 63,530,192 (GRCm39)	S9L	probably damaging	Het
Tmprss2	A	T	16: 97,369,667 (GRCm39)	M369K	possibly damaging	Het
Trip12	A	T	1: 84,771,435 (GRCm39)	S280T	probably damaging	Het
Tspoap1	T	C	11: 87,656,491 (GRCm39)	V263A	probably benign	Het
Vmn2r74	T	A	7: 85,610,621 (GRCm39)	R24*	probably null	Het
Wdr35	G	A	12: 9,077,724 (GRCm39)		probably null	Het
Zfp202	A	G	9: 40,123,109 (GRCm39)	R624G	probably damaging	Het

Other mutations in Lhpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Lhpp	APN	7	132,244,249 (GRCm39)	missense	probably damaging	1.00
IGL02695:Lhpp	APN	7	132,252,063 (GRCm39)	missense	probably damaging	1.00
IGL03220:Lhpp	APN	7	132,252,020 (GRCm39)	missense	probably benign	0.02
R0105:Lhpp	UTSW	7	132,232,254 (GRCm39)	missense	probably damaging	0.99
R0200:Lhpp	UTSW	7	132,212,406 (GRCm39)	start gained	probably benign
R0463:Lhpp	UTSW	7	132,212,406 (GRCm39)	start gained	probably benign
R1103:Lhpp	UTSW	7	132,212,484 (GRCm39)	missense	probably damaging	1.00
R1872:Lhpp	UTSW	7	132,235,816 (GRCm39)	missense	probably benign	0.24
R4816:Lhpp	UTSW	7	132,272,104 (GRCm39)	nonsense	probably null
R5140:Lhpp	UTSW	7	132,307,361 (GRCm39)	missense	probably damaging	0.99
R5799:Lhpp	UTSW	7	132,307,364 (GRCm39)	missense	probably damaging	1.00
R8503:Lhpp	UTSW	7	132,307,406 (GRCm39)	missense	probably benign
R8738:Lhpp	UTSW	7	132,243,261 (GRCm39)	missense	probably damaging	1.00
R8996:Lhpp	UTSW	7	132,212,484 (GRCm39)	missense	probably damaging	1.00
R9108:Lhpp	UTSW	7	132,252,018 (GRCm39)	missense	probably damaging	1.00
R9474:Lhpp	UTSW	7	132,243,312 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCCCAGCTTCAGGTCTG -3'
(R):5'- GAAGCTGTCTCTACGCGG -3'

Sequencing Primer
(F):5'- ATAGTGACACTGCCTATGAGCCTG -3'
(R):5'- TCTCTACGCGGCCCCAG -3'

Posted On

2018-10-18