Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Rnpep'

619630

Institutional Source

Beutler Lab

Gene Symbol

Rnpep

Ensembl Gene

ENSMUSG00000041926

Gene Name

arginyl aminopeptidase (aminopeptidase B)

Synonyms

MMRRC Submission

067496-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135190450-135211822 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135194658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 459 (Y459C)

Ref Sequence

ENSEMBL: ENSMUSP00000076564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074357] [ENSMUST00000077340]

AlphaFold

Q8VCT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000074357
AA Change: Y420C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073962
Gene: ENSMUSG00000041926
AA Change: Y420C

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:Peptidase_M1	31	246	2.5e-33	PFAM
Pfam:Peptidase_M1	243	378	3.1e-36	PFAM
Pfam:Peptidase_MA_2	257	402	4.5e-21	PFAM
Leuk-A4-hydro_C	461	606	1.4e-55	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000077340
AA Change: Y459C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076564
Gene: ENSMUSG00000041926
AA Change: Y459C

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:Peptidase_M1	31	417	2.2e-84	PFAM
Leuk-A4-hydro_C	500	645	1.4e-55	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Ano5	T	A	7: 51,237,531 (GRCm39)	V785E	probably benign	Het
Arhgef10	A	T	8: 15,004,446 (GRCm39)	R399S	probably damaging	Het
Arhgef40	A	G	14: 52,222,452 (GRCm39)		probably benign	Het
Armc3	G	T	2: 19,293,720 (GRCm39)	V504L	probably benign	Het
Asb10	T	A	5: 24,738,833 (GRCm39)	Y408F	probably benign	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccdc112	T	C	18: 46,426,529 (GRCm39)	I131M	probably damaging	Het
Chrnb3	T	A	8: 27,884,588 (GRCm39)	S442T	unknown	Het
Cit	G	A	5: 116,046,786 (GRCm39)	V400M	probably benign	Het
Copg1	T	C	6: 87,886,703 (GRCm39)	F772L	probably damaging	Het
Cts3	T	A	13: 61,714,580 (GRCm39)	I242F	probably damaging	Het
Dock1	T	A	7: 134,770,132 (GRCm39)	D1797E	probably benign	Het
Dock1	T	A	7: 134,592,358 (GRCm39)		probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,329,436 (GRCm39)	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,259 (GRCm39)	E87G	probably benign	Het
Has2	T	A	15: 56,533,341 (GRCm39)	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,341,534 (GRCm39)	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,447,768 (GRCm39)	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,512,720 (GRCm39)		probably benign	Het
Larp1b	T	C	3: 40,939,837 (GRCm39)	V330A		Het
Mast4	T	C	13: 102,874,184 (GRCm39)	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,471,303 (GRCm39)	F284I	probably damaging	Het
Moxd1	A	G	10: 24,177,510 (GRCm39)	S609G	unknown	Het
Myh1	A	C	11: 67,106,077 (GRCm39)	M1231L	probably benign	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or1e27-ps1	T	C	11: 73,555,765 (GRCm39)	I110T	probably benign	Het
Or4c10	A	T	2: 89,760,693 (GRCm39)	N180I	probably benign	Het
Or4p7	A	G	2: 88,221,848 (GRCm39)	T86A	probably benign	Het
Or5p55	A	G	7: 107,566,612 (GRCm39)	T3A	probably benign	Het
Or5w20	A	T	2: 87,727,317 (GRCm39)	Y258F	probably damaging	Het
Or6c205	A	C	10: 129,086,915 (GRCm39)	T171P	possibly damaging	Het
Pln	A	T	10: 53,219,993 (GRCm39)	I12F	unknown	Het
Pomt2	G	A	12: 87,175,780 (GRCm39)	A388V	probably damaging	Het
Rbl2	T	A	8: 91,823,497 (GRCm39)		probably null	Het
Slc23a4	T	C	6: 34,925,336 (GRCm39)	T498A	probably damaging	Het
Slc2a4	A	T	11: 69,835,836 (GRCm39)	L338M	possibly damaging	Het
Smco2	C	A	6: 146,768,283 (GRCm39)	Q221K	probably benign	Het
Snx20	G	T	8: 89,354,273 (GRCm39)	C152*	probably null	Het
Spata16	T	C	3: 26,894,869 (GRCm39)	L306P	probably damaging	Het
Spata20	A	T	11: 94,373,065 (GRCm39)	F520L	probably benign	Het
Sptbn1	A	T	11: 30,051,616 (GRCm39)	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,117,505 (GRCm39)	T250I	probably benign	Het
Trim34a	G	T	7: 103,910,183 (GRCm39)	W328C	probably damaging	Het
Trim42	T	G	9: 97,245,532 (GRCm39)	M423L	probably damaging	Het
Trpm4	T	C	7: 44,954,875 (GRCm39)	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,651,465 (GRCm39)	K238*	probably null	Het
Tshr	A	C	12: 91,505,134 (GRCm39)	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 19,058,124 (GRCm39)	H560L	possibly damaging	Het

Other mutations in Rnpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01789:Rnpep	APN	1	135,195,833 (GRCm39)	missense	possibly damaging	0.72
R0001:Rnpep	UTSW	1	135,200,223 (GRCm39)	splice site	probably benign
R0498:Rnpep	UTSW	1	135,193,090 (GRCm39)	missense	probably damaging	1.00
R0597:Rnpep	UTSW	1	135,200,157 (GRCm39)	missense	probably damaging	0.99
R1728:Rnpep	UTSW	1	135,211,715 (GRCm39)	missense	probably benign
R1728:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R1729:Rnpep	UTSW	1	135,211,715 (GRCm39)	missense	probably benign
R1729:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R1730:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R1739:Rnpep	UTSW	1	135,211,367 (GRCm39)	missense	probably benign
R1739:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R1762:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R1783:Rnpep	UTSW	1	135,211,715 (GRCm39)	missense	probably benign
R1783:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R1784:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R1785:Rnpep	UTSW	1	135,211,715 (GRCm39)	missense	probably benign
R1785:Rnpep	UTSW	1	135,190,834 (GRCm39)	missense	possibly damaging	0.95
R2101:Rnpep	UTSW	1	135,199,355 (GRCm39)	missense	probably damaging	1.00
R4933:Rnpep	UTSW	1	135,194,764 (GRCm39)	intron	probably benign
R4993:Rnpep	UTSW	1	135,190,770 (GRCm39)	missense	possibly damaging	0.80
R5642:Rnpep	UTSW	1	135,205,259 (GRCm39)	missense	probably damaging	0.99
R6965:Rnpep	UTSW	1	135,190,858 (GRCm39)	nonsense	probably null
R7143:Rnpep	UTSW	1	135,211,487 (GRCm39)	missense	probably benign	0.41
R7508:Rnpep	UTSW	1	135,206,596 (GRCm39)	missense	probably benign	0.33
R8094:Rnpep	UTSW	1	135,211,514 (GRCm39)	missense	probably damaging	1.00
R8191:Rnpep	UTSW	1	135,200,172 (GRCm39)	missense	possibly damaging	0.56
R8300:Rnpep	UTSW	1	135,211,397 (GRCm39)	missense	probably benign	0.00
R8355:Rnpep	UTSW	1	135,195,005 (GRCm39)	missense	probably damaging	0.98
R9098:Rnpep	UTSW	1	135,206,559 (GRCm39)	missense	possibly damaging	0.79
R9333:Rnpep	UTSW	1	135,191,862 (GRCm39)	missense	probably damaging	1.00
R9474:Rnpep	UTSW	1	135,211,341 (GRCm39)	missense	probably benign
Z1176:Rnpep	UTSW	1	135,211,574 (GRCm39)	missense	probably benign	0.16
Z1176:Rnpep	UTSW	1	135,199,493 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ATTCTGTGGAACAGGGCCTG -3'
(R):5'- CAGTCAACTCTCCATGTGGG -3'

Sequencing Primer
(F):5'- GGGGTCCTGAGCTGTCTCTC -3'
(R):5'- CAGGTAAAGCAGCTGGGCC -3'

Posted On

2020-01-23