Mutagenetix > Incidental Mutation

Incidental Mutation 'R5655:Rnpepl1'

442214

Institutional Source

Beutler Lab

Gene Symbol

Rnpepl1

Ensembl Gene

ENSMUSG00000026269

Gene Name

arginyl aminopeptidase (aminopeptidase B)-like 1

Synonyms

1110014H17Rik

MMRRC Submission

043301-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92837697-92848307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92847032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 272 (R272L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027487] [ENSMUST00000178116]

AlphaFold

G5E872

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027487
AA Change: R618L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: R618L

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
Pfam:Peptidase_M1	36	440	3e-58	PFAM
Leuk-A4-hydro_C	523	668	1.31e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178116

SMART Domains

Protein: ENSMUSP00000136080
Gene: ENSMUSG00000026269

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	5	170	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178816

Predicted Effect

probably damaging
Transcript: ENSMUST00000179127
AA Change: R272L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179854

Predicted Effect

probably benign
Transcript: ENSMUST00000179993

Predicted Effect

probably benign
Transcript: ENSMUST00000179531

Predicted Effect

probably benign
Transcript: ENSMUST00000179837

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,746 (GRCm39)	I99F	probably benign	Het
Acan	G	A	7: 78,749,791 (GRCm39)	D1521N	possibly damaging	Het
Acap3	C	T	4: 155,981,076 (GRCm39)	T53I	probably benign	Het
Actr3b	G	T	5: 26,053,366 (GRCm39)	V232F	probably damaging	Het
Adgrl1	G	A	8: 84,665,230 (GRCm39)	V1311M	possibly damaging	Het
Arhgap23	T	C	11: 97,343,372 (GRCm39)		probably null	Het
Asns	A	C	6: 7,685,309 (GRCm39)	M116R	probably benign	Het
Asprv1	A	T	6: 86,605,464 (GRCm39)	E103D	probably benign	Het
Atxn2	T	C	5: 121,885,489 (GRCm39)	I232T	probably damaging	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Bckdha	A	G	7: 25,329,789 (GRCm39)	Y414H	probably damaging	Het
Bod1l	G	A	5: 41,974,387 (GRCm39)	T2309M	probably benign	Het
Cacna2d1	T	A	5: 16,507,333 (GRCm39)	F361I	probably damaging	Het
Cdc45	C	T	16: 18,626,029 (GRCm39)		probably null	Het
Cog4	A	G	8: 111,589,939 (GRCm39)	Y368C	probably damaging	Het
Cplx3	C	T	9: 57,523,258 (GRCm39)	V100M	probably damaging	Het
Cyp4a12b	C	G	4: 115,290,994 (GRCm39)	H341D	probably damaging	Het
Ddx10	A	T	9: 53,120,987 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,431,424 (GRCm39)	Y414F	probably benign	Het
Dync1h1	A	G	12: 110,595,496 (GRCm39)	K1445R	probably benign	Het
Dync2h1	A	C	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
Dzip1	T	A	14: 119,124,644 (GRCm39)		probably null	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fgf14	T	C	14: 124,429,828 (GRCm39)	N36D	probably benign	Het
Fmnl3	A	T	15: 99,219,743 (GRCm39)	F668L	probably damaging	Het
Foxl2	C	T	9: 98,838,048 (GRCm39)	P112L	probably damaging	Het
Foxp2	T	G	6: 15,197,112 (GRCm39)	H51Q	probably damaging	Het
Frem3	A	T	8: 81,339,323 (GRCm39)	T539S	probably benign	Het
Ftcd	G	T	10: 76,423,937 (GRCm39)	G493C	probably damaging	Het
Gab2	A	G	7: 96,948,099 (GRCm39)	S230G	probably benign	Het
Gabra1	A	T	11: 42,073,750 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,637,975 (GRCm39)	I350L	probably benign	Het
Idh2	A	C	7: 79,747,996 (GRCm39)	C235G	probably damaging	Het
Ift140	C	T	17: 25,264,038 (GRCm39)	L514F	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lamc3	C	A	2: 31,815,729 (GRCm39)	R1142S	probably benign	Het
Lmod2	A	T	6: 24,603,853 (GRCm39)	H276L	possibly damaging	Het
Lrrc37a	T	A	11: 103,389,381 (GRCm39)	I2015L	probably benign	Het
Mcf2l	A	G	8: 13,060,444 (GRCm39)	E764G	probably damaging	Het
Mcph1	G	A	8: 18,838,326 (GRCm39)	M749I	probably benign	Het
Msh2	C	T	17: 88,026,871 (GRCm39)	A789V	possibly damaging	Het
Ndufa2	T	C	18: 36,877,519 (GRCm39)	I19V	probably benign	Het
Neurod4	T	A	10: 130,107,002 (GRCm39)	K91*	probably null	Het
Nos1	G	T	5: 118,061,322 (GRCm39)	G883C	probably damaging	Het
Npdc1	A	T	2: 25,297,692 (GRCm39)	H121L	possibly damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or3a10	A	C	11: 73,935,160 (GRCm39)	Y313*	probably null	Het
Orc1	A	G	4: 108,450,636 (GRCm39)	I123V	probably benign	Het
P2ry13	C	T	3: 59,117,260 (GRCm39)	V173M	possibly damaging	Het
Pigk	T	A	3: 152,445,858 (GRCm39)	N156K	probably damaging	Het
Pik3ap1	A	T	19: 41,286,680 (GRCm39)	F569Y	possibly damaging	Het
Pla2g4c	T	A	7: 13,063,889 (GRCm39)		probably null	Het
Plk3	A	G	4: 116,988,677 (GRCm39)	L324P	probably damaging	Het
Pom121	A	G	5: 135,421,171 (GRCm39)	S260P	unknown	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prrt2	G	A	7: 126,618,574 (GRCm39)	A297V	probably damaging	Het
Prss47	A	T	13: 65,192,857 (GRCm39)	V308E	probably damaging	Het
Ptbp2	T	C	3: 119,517,806 (GRCm39)	I139V	probably benign	Het
Ptprz1	A	T	6: 22,999,772 (GRCm39)	M621L	probably benign	Het
Rab6a	G	A	7: 100,257,501 (GRCm39)		probably null	Het
Ranbp1	C	T	16: 18,059,669 (GRCm39)	D127N	probably damaging	Het
Slc27a2	T	C	2: 126,420,859 (GRCm39)	L314P	probably damaging	Het
Slc6a5	A	T	7: 49,606,218 (GRCm39)	M709L	probably benign	Het
Smarcc1	A	T	9: 109,986,412 (GRCm39)	S238C	probably null	Het
Snx29	C	T	16: 11,573,185 (GRCm39)	L476F	probably damaging	Het
Sorbs2	T	C	8: 46,194,618 (GRCm39)		probably null	Het
St6galnac2	T	C	11: 116,575,972 (GRCm39)	N160D	probably damaging	Het
Thsd7b	A	G	1: 129,556,671 (GRCm39)		probably null	Het
Trpc4ap	G	A	2: 155,495,547 (GRCm39)	T306I	possibly damaging	Het
Ubr5	T	G	15: 38,015,337 (GRCm39)	Y891S	probably damaging	Het
Vmn1r220	A	G	13: 23,368,298 (GRCm39)	F133L	probably benign	Het
Vmn1r56	T	A	7: 5,198,700 (GRCm39)	I306F	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,315 (GRCm39)	V193A	probably benign	Het
Yipf1	T	A	4: 107,202,354 (GRCm39)	V239E	probably damaging	Het
Zfp7	G	T	15: 76,775,629 (GRCm39)	C557F	probably damaging	Het

Other mutations in Rnpepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Rnpepl1	APN	1	92,843,621 (GRCm39)	missense	possibly damaging	0.69
IGL01291:Rnpepl1	APN	1	92,847,468 (GRCm39)	missense	probably benign
IGL02266:Rnpepl1	APN	1	92,844,611 (GRCm39)	missense	probably damaging	1.00
IGL02481:Rnpepl1	APN	1	92,843,629 (GRCm39)	missense	probably damaging	1.00
IGL02483:Rnpepl1	APN	1	92,843,629 (GRCm39)	missense	probably damaging	1.00
IGL03377:Rnpepl1	APN	1	92,846,953 (GRCm39)	missense	probably benign	0.01
ANU05:Rnpepl1	UTSW	1	92,847,468 (GRCm39)	missense	probably benign
R0069:Rnpepl1	UTSW	1	92,846,620 (GRCm39)	missense	possibly damaging	0.91
R0409:Rnpepl1	UTSW	1	92,843,582 (GRCm39)	missense	probably damaging	1.00
R0479:Rnpepl1	UTSW	1	92,846,587 (GRCm39)	unclassified	probably benign
R1155:Rnpepl1	UTSW	1	92,844,609 (GRCm39)	missense	probably damaging	1.00
R1170:Rnpepl1	UTSW	1	92,846,917 (GRCm39)	missense	possibly damaging	0.56
R1397:Rnpepl1	UTSW	1	92,844,881 (GRCm39)	missense	probably damaging	1.00
R1601:Rnpepl1	UTSW	1	92,844,944 (GRCm39)	missense	possibly damaging	0.95
R2184:Rnpepl1	UTSW	1	92,844,545 (GRCm39)	missense	probably benign	0.43
R2187:Rnpepl1	UTSW	1	92,844,617 (GRCm39)	missense	probably null	1.00
R2211:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R2902:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R3105:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R3196:Rnpepl1	UTSW	1	92,844,881 (GRCm39)	missense	probably damaging	1.00
R3439:Rnpepl1	UTSW	1	92,844,662 (GRCm39)	missense	possibly damaging	0.94
R4887:Rnpepl1	UTSW	1	92,842,835 (GRCm39)	missense	probably damaging	1.00
R4966:Rnpepl1	UTSW	1	92,844,483 (GRCm39)	missense	probably damaging	1.00
R5212:Rnpepl1	UTSW	1	92,839,045 (GRCm39)	missense	probably benign	0.03
R5214:Rnpepl1	UTSW	1	92,847,001 (GRCm39)	missense	probably benign	0.01
R5385:Rnpepl1	UTSW	1	92,844,914 (GRCm39)	missense	probably damaging	1.00
R5694:Rnpepl1	UTSW	1	92,846,663 (GRCm39)	missense	probably benign	0.03
R5940:Rnpepl1	UTSW	1	92,845,434 (GRCm39)	missense	probably damaging	1.00
R6046:Rnpepl1	UTSW	1	92,844,543 (GRCm39)	missense	probably damaging	1.00
R6086:Rnpepl1	UTSW	1	92,845,403 (GRCm39)	missense	probably damaging	1.00
R6104:Rnpepl1	UTSW	1	92,843,606 (GRCm39)	missense	probably benign
R6349:Rnpepl1	UTSW	1	92,847,563 (GRCm39)	missense	probably damaging	1.00
R7381:Rnpepl1	UTSW	1	92,846,917 (GRCm39)	missense	possibly damaging	0.56
R7402:Rnpepl1	UTSW	1	92,847,372 (GRCm39)	missense	probably benign	0.01
R7474:Rnpepl1	UTSW	1	92,846,694 (GRCm39)	missense	probably benign	0.14
R7714:Rnpepl1	UTSW	1	92,844,890 (GRCm39)	missense	probably damaging	1.00
R9408:Rnpepl1	UTSW	1	92,845,424 (GRCm39)	missense	probably benign	0.19
R9566:Rnpepl1	UTSW	1	92,847,468 (GRCm39)	missense
R9591:Rnpepl1	UTSW	1	92,847,309 (GRCm39)	missense	probably damaging	1.00
R9773:Rnpepl1	UTSW	1	92,847,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACAGCACTCTTCCTGGAC -3'
(R):5'- GATGCTCAGGATGGCTTTGC -3'

Sequencing Primer
(F):5'- CTGCTAGATGGATCCCCGTTG -3'
(R):5'- CCTGGACTCACATGCTACAGTG -3'

Posted On

2016-11-09