Mutagenetix > Incidental Mutation

Incidental Mutation 'R4503:Sprr3'

331888

Institutional Source

Beutler Lab

Gene Symbol

Sprr3

Ensembl Gene

ENSMUSG00000045539

Gene Name

small proline-rich protein 3

Synonyms

SPR3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92363809-92366027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92364683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 54 (I54V)

Ref Sequence

ENSEMBL: ENSMUSP00000056287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058142]

AlphaFold

O09116

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058142
AA Change: I54V

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056287
Gene: ENSMUSG00000045539
AA Change: I54V

Domain	Start	End	E-Value	Type
Pfam:Cornifin	17	142	1.3e-35	PFAM
Pfam:Cornifin	125	236	3.9e-26	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,607,672 (GRCm39)	L30P	probably benign	Het
Adamts20	T	C	15: 94,277,631 (GRCm39)	H277R	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp13a5	G	T	16: 29,112,346 (GRCm39)	N598K	probably benign	Het
Ccdc171	A	G	4: 83,782,560 (GRCm39)	E1284G	probably damaging	Het
Cdk5	G	A	5: 24,624,617 (GRCm39)	T258M	possibly damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Coro6	A	G	11: 77,360,272 (GRCm39)	E414G	probably benign	Het
Dst	T	C	1: 34,301,334 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
H2bc18	A	T	3: 96,177,240 (GRCm39)	K58M	possibly damaging	Het
Kank4	G	A	4: 98,665,335 (GRCm39)	S653L	possibly damaging	Het
Mapkbp1	T	C	2: 119,846,187 (GRCm39)	I451T	probably damaging	Het
Ncf2	A	G	1: 152,709,529 (GRCm39)	E342G	probably benign	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Or6aa1	T	A	7: 86,044,485 (GRCm39)	T74S	possibly damaging	Het
Pds5b	T	C	5: 150,652,399 (GRCm39)	L222P	probably damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Sacs	A	G	14: 61,445,052 (GRCm39)	N2366S	probably damaging	Het
Sall2	T	C	14: 52,550,916 (GRCm39)	M758V	probably benign	Het
Sh3tc2	A	G	18: 62,107,694 (GRCm39)	E235G	probably damaging	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Smad2	T	A	18: 76,435,663 (GRCm39)	S419T	probably benign	Het
Tbck	A	G	3: 132,456,981 (GRCm39)	T632A	probably benign	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Tmem178	C	T	17: 81,293,693 (GRCm39)	T162I	probably benign	Het
Zfp619	A	G	7: 39,186,280 (GRCm39)	H770R	probably damaging	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	possibly damaging	Het

Other mutations in Sprr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02557:Sprr3	APN	3	92,364,473 (GRCm39)	missense	possibly damaging	0.95
BB010:Sprr3	UTSW	3	92,364,515 (GRCm39)	missense	possibly damaging	0.66
BB020:Sprr3	UTSW	3	92,364,515 (GRCm39)	missense	possibly damaging	0.66
R0070:Sprr3	UTSW	3	92,364,609 (GRCm39)	missense	probably benign
R0512:Sprr3	UTSW	3	92,364,784 (GRCm39)	missense	possibly damaging	0.71
R0907:Sprr3	UTSW	3	92,364,316 (GRCm39)	missense	probably benign	0.09
R1976:Sprr3	UTSW	3	92,364,253 (GRCm39)	missense	possibly damaging	0.52
R4241:Sprr3	UTSW	3	92,364,214 (GRCm39)	missense	possibly damaging	0.92
R7622:Sprr3	UTSW	3	92,364,592 (GRCm39)	missense	probably damaging	0.98
R7753:Sprr3	UTSW	3	92,364,415 (GRCm39)	missense	probably benign	0.18
R7933:Sprr3	UTSW	3	92,364,515 (GRCm39)	missense	possibly damaging	0.66
R8061:Sprr3	UTSW	3	92,364,184 (GRCm39)	missense	probably damaging	0.98
R8742:Sprr3	UTSW	3	92,364,307 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGATCCAGGAACCACGGTAC -3'
(R):5'- CATCCTTTGAAGCATGAGTTCTTACC -3'

Sequencing Primer
(F):5'- CATGGCCCAGGAATTGTAGTATAATC -3'
(R):5'- TGAGTTCTTACCAGCAAAAGCAG -3'

Posted On

2015-07-21