Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01630:Sprr2h'

92887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sprr2h

Ensembl Gene

ENSMUSG00000046259

Gene Name

small proline-rich protein 2H

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

IGL01630

Quality Score

Status

Chromosome

Chromosomal Location

92385685-92387324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92386951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 35 (N35S)

Ref Sequence

ENSEMBL: ENSMUSP00000141424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059845] [ENSMUST00000191886]

AlphaFold

O70559

Predicted Effect

unknown
Transcript: ENSMUST00000059845
AA Change: N107S

SMART Domains

Protein: ENSMUSP00000053849
Gene: ENSMUSG00000046259
AA Change: N107S

Domain	Start	End	E-Value	Type
Pfam:SPRR2	2	56	7.4e-18	PFAM
Pfam:SPRR2	51	105	2.5e-14	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000191886
AA Change: N35S

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,161,855	T207A	possibly damaging	Het
Ak8	T	A	2: 28,712,279	M75K	probably benign	Het
Aldh1a7	A	T	19: 20,696,329		probably benign	Het
Ankrd34c	G	A	9: 89,729,826	T154I	probably damaging	Het
Arrb2	A	G	11: 70,436,871	I120M	probably damaging	Het
Atp2a1	A	G	7: 126,450,265	V535A	probably benign	Het
Cckbr	G	T	7: 105,434,086	W165C	probably damaging	Het
Col12a1	A	T	9: 79,657,366	H1677Q	probably damaging	Het
Fancd2	T	C	6: 113,563,124	F658S	probably damaging	Het
Gm5581	A	T	6: 131,168,296		noncoding transcript	Het
H2-M3	A	G	17: 37,270,657	E70G	possibly damaging	Het
Hltf	A	G	3: 20,082,904		probably benign	Het
Ighv1-24	C	A	12: 114,773,053	V76F	probably benign	Het
Igkv1-110	A	T	6: 68,271,161	R85W	probably damaging	Het
Kif9	A	C	9: 110,485,070	R43S	probably benign	Het
Klf11	T	C	12: 24,660,369	I472T	probably benign	Het
Napsa	A	G	7: 44,586,665	Y376C	probably damaging	Het
Notch2	C	T	3: 98,146,618	A2199V	possibly damaging	Het
Olfr390	A	G	11: 73,787,861	K308E	probably benign	Het
Olfr713	A	T	7: 107,037,111		probably benign	Het
Pcnt	T	A	10: 76,420,246	D720V	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Ptk6	T	C	2: 181,197,066	E298G	probably damaging	Het
Rbm27	T	A	18: 42,301,840	L323H	probably damaging	Het
Sall3	A	G	18: 80,971,269	L1076P	probably benign	Het
Susd1	T	C	4: 59,365,817	D412G	possibly damaging	Het
Ugdh	T	A	5: 65,416,905	M432L	probably benign	Het
Uggt2	C	T	14: 119,042,772	V765I	probably benign	Het
Unc13d	T	C	11: 116,073,866	Q258R	probably benign	Het
Wdfy3	A	T	5: 101,907,488	F1572Y	probably benign	Het
Xpo1	A	G	11: 23,285,846	T645A	probably benign	Het
Zer1	A	G	2: 30,101,831	V659A	probably damaging	Het

Other mutations in Sprr2h

Allele	Source	Chr	Coord	Type	Predicted Effect
R1869:Sprr2h	UTSW	3	92386618	start gained	probably benign
R6208:Sprr2h	UTSW	3	92386909	missense	unknown
R8034:Sprr2h	UTSW	3	92386813	missense	unknown

Posted On

2013-12-09