Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00571:Sprr2a3'

332657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sprr2a3

Ensembl Gene

ENSMUSG00000074445

Gene Name

small proline-rich protein 2A3

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00571

Quality Score

Status

Chromosome

Chromosomal Location

92192611-92196571 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 92196074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 60 (Y60*)

Ref Sequence

ENSEMBL: ENSMUSP00000142110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090872] [ENSMUST00000193337]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000090872
AA Change: Y60*

SMART Domains

Protein: ENSMUSP00000088387
Gene: ENSMUSG00000074445
AA Change: Y60*

Domain	Start	End	E-Value	Type
Pfam:SPRR2	2	51	1.9e-11	PFAM
internal_repeat_1	57	79	6.43e-7	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000193337
AA Change: Y60*

SMART Domains

Protein: ENSMUSP00000142110
Gene: ENSMUSG00000074445
AA Change: Y60*

Domain	Start	End	E-Value	Type
Pfam:SPRR2	2	50	4e-15	PFAM
Pfam:SPRR2	36	83	5.1e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	G	11: 76,359,566 (GRCm39)	S180R	probably benign	Het
Atrn	G	T	2: 130,836,968 (GRCm39)	R1144L	probably damaging	Het
Dsc1	G	T	18: 20,243,195 (GRCm39)	S86Y	probably damaging	Het
Ets2	C	A	16: 95,513,185 (GRCm39)	N120K	probably benign	Het
Fas	A	T	19: 34,296,018 (GRCm39)	T154S	probably damaging	Het
Fbxo41	T	C	6: 85,455,084 (GRCm39)		probably null	Het
Fzd8	A	T	18: 9,213,068 (GRCm39)	Y50F	unknown	Het
Hmcn1	C	T	1: 150,514,750 (GRCm39)	V3541I	probably benign	Het
Il6st	G	A	13: 112,624,394 (GRCm39)	V215M	probably damaging	Het
Kif13b	G	A	14: 64,983,866 (GRCm39)	V581M	probably damaging	Het
Liph	A	G	16: 21,786,890 (GRCm39)	F242S	probably damaging	Het
Nacc2	T	C	2: 25,979,702 (GRCm39)	T245A	probably benign	Het
Nlrp1b	C	T	11: 71,054,799 (GRCm39)	D889N	probably null	Het
Parp4	T	A	14: 56,884,810 (GRCm39)	S1296R	unknown	Het
Prr23a4	A	C	9: 98,785,739 (GRCm39)	T135P	possibly damaging	Het
Sec24a	G	A	11: 51,627,331 (GRCm39)	Q194*	probably null	Het
Slco6c1	T	C	1: 97,015,676 (GRCm39)	N372D	probably benign	Het
Tdrd6	T	A	17: 43,939,051 (GRCm39)	I666F	probably damaging	Het
Tlr1	T	C	5: 65,083,777 (GRCm39)	I267V	probably benign	Het
Tmtc2	A	G	10: 105,157,307 (GRCm39)	I633T	possibly damaging	Het
Ttc33	A	G	15: 5,246,809 (GRCm39)	D205G	probably damaging	Het
Uspl1	A	G	5: 149,125,170 (GRCm39)	K26E	probably damaging	Het
Zfp639	A	G	3: 32,574,068 (GRCm39)	D231G	probably damaging	Het

Other mutations in Sprr2a3

Allele	Source	Chr	Coord	Type	Predicted Effect
R0597:Sprr2a3	UTSW	3	92,195,897 (GRCm39)	start codon destroyed	probably null
R7742:Sprr2a3	UTSW	3	92,196,066 (GRCm39)	missense	unknown
R9591:Sprr2a3	UTSW	3	92,195,961 (GRCm39)	missense	unknown

Posted On

2015-08-05