Mutagenetix > Incidental Mutation

Incidental Mutation 'R6441:Lonrf2'

518999

Institutional Source

Beutler Lab

Gene Symbol

Lonrf2

Ensembl Gene

ENSMUSG00000048814

Gene Name

LON peptidase N-terminal domain and ring finger 2

Synonyms

2900060P06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6441 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38793645-38836711 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38818123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 44 (E44G)

Ref Sequence

ENSEMBL: ENSMUSP00000117600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039612] [ENSMUST00000147695]

AlphaFold

F6ZE64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039612
AA Change: E44G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047372
Gene: ENSMUSG00000048814
AA Change: E44G

Domain	Start	End	E-Value	Type
Blast:TPR	22	55	2e-14	BLAST
low complexity region	72	87	N/A	INTRINSIC
RING	213	250	1.54e-5	SMART
Pfam:LON	301	498	4.1e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147695
AA Change: E44G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117600
Gene: ENSMUSG00000048814
AA Change: E44G

Domain	Start	End	E-Value	Type
Blast:TPR	22	55	2e-14	BLAST
low complexity region	72	87	N/A	INTRINSIC
RING	213	250	1.54e-5	SMART
Pfam:LON_substr_bdg	301	498	2.6e-27	PFAM

Meta Mutation Damage Score

0.1144

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,771,459	M1047K	probably benign	Het
Apob	A	T	12: 7,987,796	D322V	probably damaging	Het
Capn12	T	A	7: 28,888,002	C438S	probably benign	Het
Cdh23	A	T	10: 60,308,036	V2932E	probably damaging	Het
Cdh9	A	T	15: 16,823,423	T164S	probably benign	Het
CN725425	T	C	15: 91,235,802	V42A	probably benign	Het
Cpb1	T	C	3: 20,249,814	D362G	probably damaging	Het
Csmd2	C	A	4: 128,394,964	Q1099K	probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Galnt4	A	G	10: 99,110,098	M562V	possibly damaging	Het
Gtf3c3	T	A	1: 54,406,038	E619V	probably benign	Het
Gucy2c	A	T	6: 136,723,761	M585K	probably damaging	Het
Hmcn1	A	G	1: 150,703,216	I1993T	possibly damaging	Het
Lrit3	A	T	3: 129,800,360	F189L	probably benign	Het
Mag	T	C	7: 30,907,083	N310D	possibly damaging	Het
Mccc2	T	C	13: 99,954,676	T151A	probably damaging	Het
Mybpc1	A	T	10: 88,553,277	S49T	probably benign	Het
Myh2	A	G	11: 67,194,611	E1787G	probably benign	Het
Ncapd3	A	G	9: 27,063,416	D728G	probably benign	Het
Nup37	A	G	10: 88,160,937	E139G	probably benign	Het
Odf3	T	C	7: 140,849,248	S149P	probably damaging	Het
Olfr651	C	T	7: 104,553,335	Q139*	probably null	Het
Pcdhgb5	A	G	18: 37,732,085	Y311C	probably damaging	Het
Pls1	A	G	9: 95,754,745	I558T	probably damaging	Het
Rbm44	A	T	1: 91,157,077	N674Y	probably damaging	Het
Ryr1	T	C	7: 29,059,695	I3353V	possibly damaging	Het
Sema3c	C	T	5: 17,724,132	T588I	possibly damaging	Het
Sh2d5	A	T	4: 138,259,082	E372V	possibly damaging	Het
Slc27a6	C	T	18: 58,572,058	P171S	probably benign	Het
Slfn3	C	T	11: 83,214,914	T579I	probably benign	Het
Svil	T	G	18: 5,049,323	V287G	probably benign	Het
Tas1r2	T	A	4: 139,669,156	V602D	probably damaging	Het
Tln2	A	G	9: 67,272,689	L800P	probably damaging	Het
Trim31	C	A	17: 36,907,791	Q323K	possibly damaging	Het
Txndc9	T	A	1: 37,990,218	D183V	possibly damaging	Het
Vmn2r28	T	A	7: 5,488,475	M258L	probably benign	Het
Vmn2r75	A	T	7: 86,171,576	I50N	probably damaging	Het
Zgrf1	A	T	3: 127,588,034	N1161Y	possibly damaging	Het

Other mutations in Lonrf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Lonrf2	APN	1	38812535	splice site	probably benign
IGL02369:Lonrf2	APN	1	38811832	splice site	probably benign
IGL02526:Lonrf2	APN	1	38800710	missense	probably benign	0.02
gorged	UTSW	1	38804336	missense	probably benign	0.05
Swollen	UTSW	1	38813389	missense	probably benign
R1450:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1527:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1541:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1655:Lonrf2	UTSW	1	38811824	missense	probably damaging	0.98
R1679:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1681:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1711:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1732:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1758:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1768:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1795:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1831:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1832:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R1833:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R2044:Lonrf2	UTSW	1	38807050	missense	probably benign	0.17
R2054:Lonrf2	UTSW	1	38813276	missense	probably benign	0.14
R2656:Lonrf2	UTSW	1	38815960	splice site	probably null
R4084:Lonrf2	UTSW	1	38821151	missense	probably benign	0.00
R4775:Lonrf2	UTSW	1	38818059	splice site	probably null
R4796:Lonrf2	UTSW	1	38816038	missense	probably benign	0.00
R5445:Lonrf2	UTSW	1	38807153	missense	probably benign	0.05
R5875:Lonrf2	UTSW	1	38807047	missense	probably benign	0.01
R5902:Lonrf2	UTSW	1	38807093	missense	probably benign	0.17
R6533:Lonrf2	UTSW	1	38813268	missense	probably benign	0.08
R6695:Lonrf2	UTSW	1	38813389	missense	probably benign
R6930:Lonrf2	UTSW	1	38804336	missense	probably benign	0.05
R7923:Lonrf2	UTSW	1	38800762	missense	probably benign	0.30
R8237:Lonrf2	UTSW	1	38800773	missense	probably benign	0.00
R9072:Lonrf2	UTSW	1	38811786	missense	probably damaging	1.00
R9073:Lonrf2	UTSW	1	38811786	missense	probably damaging	1.00
R9433:Lonrf2	UTSW	1	38836457	start gained	probably benign
R9468:Lonrf2	UTSW	1	38800758	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTACACCGTCACAGGCATTTG -3'
(R):5'- CAGTGAAGCTTGCCAGTTATC -3'

Sequencing Primer
(F):5'- CCGTCACAGGCATTTGAAATCATG -3'
(R):5'- GCTTGCCAGTTATCAAGACG -3'

Posted On

2018-05-24