Mutagenetix > Incidental Mutation

Incidental Mutation 'R5733:Sprr2k'

451525

Institutional Source

Beutler Lab

Gene Symbol

Sprr2k

Ensembl Gene

ENSMUSG00000054215

Gene Name

small proline-rich protein 2K

Synonyms

MMRRC Submission

043193-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5733 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92339889-92341232 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 92340655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047300] [ENSMUST00000062160] [ENSMUST00000067102] [ENSMUST00000192538]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047300

SMART Domains

Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165

Domain	Start	End	E-Value	Type
Pfam:Proteasom_Rpn13	29	111	5.8e-36	PFAM
low complexity region	132	150	N/A	INTRINSIC
Pfam:RPN13_C	170	283	7.5e-38	PFAM
low complexity region	292	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062160

SMART Domains

Protein: ENSMUSP00000058617
Gene: ENSMUSG00000048455

Domain	Start	End	E-Value	Type
Pfam:Cornifin	17	151	6e-65	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000067102
AA Change: S2P

SMART Domains

Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215
AA Change: S2P

Domain	Start	End	E-Value	Type
Pfam:SPRR2	2	65	1.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192538

SMART Domains

Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165

Domain	Start	End	E-Value	Type
Pfam:Proteasom_Rpn13	29	112	7.4e-35	PFAM
low complexity region	135	161	N/A	INTRINSIC
low complexity region	173	254	N/A	INTRINSIC
PDB:2KR0\|A	255	407	4e-78	PDB

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	A	5: 35,762,543 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,742,100 (GRCm39)	Y657*	probably null	Het
Anxa3	T	A	5: 96,968,331 (GRCm39)	I128N	probably damaging	Het
Bsnd	T	C	4: 106,345,198 (GRCm39)	T83A	probably benign	Het
Capn10	A	G	1: 92,871,635 (GRCm39)	Y411C	probably benign	Het
Capn3	G	A	2: 120,315,075 (GRCm39)	W201*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
Daam1	A	G	12: 71,992,272 (GRCm39)	D329G	unknown	Het
Dmxl2	A	T	9: 54,283,550 (GRCm39)	L2761Q	possibly damaging	Het
Fcho2	A	C	13: 98,926,310 (GRCm39)	V91G	probably damaging	Het
Fen1	A	T	19: 10,178,022 (GRCm39)	C141S	possibly damaging	Het
Fkbp15	G	C	4: 62,225,166 (GRCm39)	A831G	probably benign	Het
Frmd4a	A	T	2: 4,305,768 (GRCm39)	R14S	possibly damaging	Het
Fzr1	A	G	10: 81,206,160 (GRCm39)	F176L	possibly damaging	Het
Garem2	A	G	5: 30,321,336 (GRCm39)	D565G	probably damaging	Het
Garre1	A	T	7: 33,944,505 (GRCm39)	S76T	probably damaging	Het
Iqca1	G	T	1: 89,998,257 (GRCm39)	T549K	probably damaging	Het
Itgax	T	A	7: 127,739,647 (GRCm39)	S686R	probably damaging	Het
Knop1	C	A	7: 118,445,305 (GRCm39)	G220C	probably damaging	Het
Lyzl1	T	A	18: 4,169,142 (GRCm39)	C49S	probably damaging	Het
Mpzl1	A	T	1: 165,433,180 (GRCm39)	I157K	probably benign	Het
Mrgprb2	T	C	7: 48,202,261 (GRCm39)	I155V	probably benign	Het
Mucl3	T	C	17: 35,949,102 (GRCm39)	M166V	probably benign	Het
Mvb12b	T	C	2: 33,717,728 (GRCm39)	T167A	probably benign	Het
Myh3	A	G	11: 66,979,445 (GRCm39)	N491S	probably benign	Het
Myo5b	A	G	18: 74,787,128 (GRCm39)	D511G	possibly damaging	Het
Or10ak8	C	T	4: 118,774,035 (GRCm39)	V210I	probably benign	Het
Or11h4	T	C	14: 50,974,509 (GRCm39)	T37A	probably benign	Het
Or6b1	C	T	6: 42,815,180 (GRCm39)	R122C	probably damaging	Het
Or8k21	T	G	2: 86,145,558 (GRCm39)	Q24P	probably damaging	Het
Ptcd1	A	G	5: 145,091,671 (GRCm39)	M476T	probably damaging	Het
Pum3	A	G	19: 27,398,695 (GRCm39)		probably null	Het
Ranbp2	G	A	10: 58,321,658 (GRCm39)	D2652N	probably damaging	Het
Rassf1	T	C	9: 107,435,213 (GRCm39)	V166A	probably damaging	Het
Rictor	A	G	15: 6,812,585 (GRCm39)	H907R	probably benign	Het
Rorb	T	C	19: 18,965,471 (GRCm39)	E6G	probably damaging	Het
Serpina3f	A	T	12: 104,183,182 (GRCm39)	T15S	possibly damaging	Het
Sorbs2	T	C	8: 46,212,226 (GRCm39)	L100P	probably damaging	Het
Srrm2	T	A	17: 24,040,360 (GRCm39)	S2431T	probably damaging	Het
Stox2	T	A	8: 47,866,172 (GRCm39)	K57*	probably null	Het
Ttc21a	G	A	9: 119,770,327 (GRCm39)	V133I	probably benign	Het
Vasn	T	C	16: 4,468,026 (GRCm39)	Y658H	possibly damaging	Het
Zfp251	A	G	15: 76,754,527 (GRCm39)	Y35H	probably damaging	Het

Other mutations in Sprr2k

Allele	Source	Chr	Coord	Type	Predicted Effect
R0310:Sprr2k	UTSW	3	92,340,770 (GRCm39)	unclassified	probably benign
R1476:Sprr2k	UTSW	3	92,340,703 (GRCm39)	unclassified	probably benign
R2042:Sprr2k	UTSW	3	92,340,763 (GRCm39)	unclassified	probably benign
R4844:Sprr2k	UTSW	3	92,336,732 (GRCm39)	splice site	probably null
R6802:Sprr2k	UTSW	3	92,340,671 (GRCm39)	unclassified	probably benign
R8088:Sprr2k	UTSW	3	92,340,796 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTATGTAACCAAACCAGGACTTAC -3'
(R):5'- ACATTTCTGCTGGCATGGTG -3'

Sequencing Primer
(F):5'- CAAACCAGGACTTACAAAGTTAAAGG -3'
(R):5'- TGGTGCCTCCAGGACAG -3'

Posted On

2017-01-03