Mutagenetix > Incidental Mutation

Incidental Mutation 'R9156:Rpp21'

723512

Institutional Source

Beutler Lab

Gene Symbol

Rpp21

Ensembl Gene

ENSMUSG00000024446

Gene Name

ribonuclease P 21 subunit

Synonyms

0610037N01Rik, Rpp21

MMRRC Submission

068974-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R9156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36566565-36568738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36568407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 23 (C23S)

Ref Sequence

ENSEMBL: ENSMUSP00000076739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025319] [ENSMUST00000042717] [ENSMUST00000077535] [ENSMUST00000113706] [ENSMUST00000172573] [ENSMUST00000173369] [ENSMUST00000173665]

AlphaFold

Q8R040

Predicted Effect

silent
Transcript: ENSMUST00000025319

SMART Domains

Protein: ENSMUSP00000025319
Gene: ENSMUSG00000024446

Domain	Start	End	E-Value	Type
Pfam:Rpr2	13	96	1.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042717

SMART Domains

Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	306	359	2.3e-27	SMART
SPRY	360	485	1.95e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077535
AA Change: C23S

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

SMART Domains

Protein: ENSMUSP00000076739
Gene: ENSMUSG00000024446
AA Change: C23S

Domain	Start	End	E-Value	Type
low complexity region	28	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113706

SMART Domains

Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	306	359	2.3e-27	SMART
SPRY	360	485	1.95e-31	SMART

Predicted Effect

silent
Transcript: ENSMUST00000172573

SMART Domains

Protein: ENSMUSP00000133400
Gene: ENSMUSG00000024446

Domain	Start	End	E-Value	Type
Pfam:Rpr2	1	48	4.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173369

SMART Domains

Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	314	367	1.23e-27	SMART
SPRY	368	493	1.95e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173665

SMART Domains

Protein: ENSMUSP00000133529
Gene: ENSMUSG00000045409

Domain	Start	End	E-Value	Type
BBOX	1	40	5.81e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,647,957 (GRCm39)	L1150V	probably damaging	Het
AB124611	A	G	9: 21,455,989 (GRCm39)	D194G	possibly damaging	Het
Adgrv1	A	G	13: 81,669,302 (GRCm39)	L2418P	probably benign	Het
Ap3m1	A	G	14: 21,090,152 (GRCm39)	S213P	probably damaging	Het
Apobec2	A	T	17: 48,739,531 (GRCm39)	L36H		Het
Arrb1	A	G	7: 99,237,280 (GRCm39)	D78G		Het
Astn1	A	G	1: 158,338,555 (GRCm39)	Q434R	probably damaging	Het
Cadps	C	G	14: 12,705,676 (GRCm38)	D240H	probably damaging	Het
Cfhr4	A	G	1: 139,660,085 (GRCm39)	I680T	probably damaging	Het
Cmya5	A	C	13: 93,233,878 (GRCm39)	D403E	unknown	Het
Crxos	A	C	7: 15,631,436 (GRCm39)	I45L	probably benign	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah2	A	G	11: 69,313,687 (GRCm39)	I4204T		Het
Ei24	A	G	9: 36,697,327 (GRCm39)	S134P	probably damaging	Het
Eif2ak3	G	T	6: 70,860,614 (GRCm39)	V397F	probably damaging	Het
Eif4g2	T	C	7: 110,672,969 (GRCm39)	I134V		Het
Fam186a	A	G	15: 99,841,159 (GRCm39)	I1695T	possibly damaging	Het
Gcnt3	T	C	9: 69,941,939 (GRCm39)	M210V	probably damaging	Het
Gpatch8	A	G	11: 102,370,299 (GRCm39)	S1080P	probably benign	Het
Gtf3c1	A	G	7: 125,244,949 (GRCm39)	L1695P	possibly damaging	Het
Haus3	A	G	5: 34,324,994 (GRCm39)	F222L	probably damaging	Het
Kbtbd8	C	T	6: 95,099,825 (GRCm39)	Q445*	probably null	Het
Kcnc3	A	G	7: 44,240,592 (GRCm39)	N95D	probably damaging	Het
Krt40	C	T	11: 99,430,693 (GRCm39)		probably null	Het
Lgi1	A	G	19: 38,289,746 (GRCm39)	T271A	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map3k21	A	G	8: 126,665,463 (GRCm39)	T551A	possibly damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mug1	C	A	6: 121,851,390 (GRCm39)	D762E	probably damaging	Het
Myo1e	A	T	9: 70,266,605 (GRCm39)	N615I	probably damaging	Het
Or4k36	T	C	2: 111,145,827 (GRCm39)	M1T	probably null	Het
Or51f23	T	C	7: 102,453,339 (GRCm39)	L218P	probably damaging	Het
Pld5	T	C	1: 175,803,104 (GRCm39)	E387G	possibly damaging	Het
Pld5	A	G	1: 175,902,003 (GRCm39)	V195A	probably benign	Het
Rad54l	T	C	4: 115,980,349 (GRCm39)		probably benign	Het
Rnf123	A	T	9: 107,940,227 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,331,574 (GRCm39)	E2262G		Het
Rp1	C	A	1: 4,234,161 (GRCm39)	V910L	unknown	Het
Scn11a	T	C	9: 119,588,989 (GRCm39)	M1306V	possibly damaging	Het
Scn2b	C	T	9: 45,036,734 (GRCm39)	L81F	possibly damaging	Het
Sco2	T	C	15: 89,256,363 (GRCm39)	D97G	probably damaging	Het
Slc25a54	T	C	3: 109,001,548 (GRCm39)	V112A	probably benign	Het
Slc5a11	A	T	7: 122,864,492 (GRCm39)	K363*	probably null	Het
Smg1	G	T	7: 117,753,884 (GRCm39)	T2563K	unknown	Het
Snap47	A	T	11: 59,319,290 (GRCm39)	S283T	probably damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,178,388 (GRCm39)	R274L	probably damaging	Het
Stoml1	A	G	9: 58,164,409 (GRCm39)	T166A		Het
Svs5	G	T	2: 164,079,509 (GRCm39)	Q133K	probably benign	Het
Tas2r107	T	A	6: 131,636,422 (GRCm39)	H209L	probably benign	Het
Tmco3	T	A	8: 13,360,228 (GRCm39)	V477D	possibly damaging	Het
Tmem131	A	T	1: 36,880,767 (GRCm39)	S168T	possibly damaging	Het
Tmem41a	T	C	16: 21,755,859 (GRCm39)	N149S	probably damaging	Het
Ttll4	T	C	1: 74,719,225 (GRCm39)	F359L	probably benign	Het
Ttn	T	A	2: 76,785,162 (GRCm39)	M784L	unknown	Het
Ubr1	A	G	2: 120,703,603 (GRCm39)		probably null	Het
Ubxn2b	C	T	4: 6,214,646 (GRCm39)	P227S	probably damaging	Het
Upb1	C	T	10: 75,265,961 (GRCm39)	L263F	probably benign	Het
Usp15	T	A	10: 122,949,553 (GRCm39)	T935S	probably benign	Het
Zscan4-ps3	G	A	7: 11,347,164 (GRCm39)	C400Y	probably damaging	Het

Other mutations in Rpp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4184:Rpp21	UTSW	17	36,568,611 (GRCm39)	unclassified	probably benign
R8412:Rpp21	UTSW	17	36,568,591 (GRCm39)	missense	possibly damaging	0.70
R8729:Rpp21	UTSW	17	36,566,927 (GRCm39)	missense	probably benign
R8835:Rpp21	UTSW	17	36,566,678 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGCAGAAAGTCTCCATC -3'
(R):5'- GAGACTCAGCTTCCTGTACC -3'

Sequencing Primer
(F):5'- CAGAAAGTCTCCATCTCTAGGTGG -3'
(R):5'- AGAGTAACCTGGATGGCCGTC -3'

Posted On

2022-08-10