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

92292992-92294631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92294258 bp (GRCm39)

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: 98,069,171 (GRCm39)	T207A	possibly damaging	Het
Ak8	T	A	2: 28,602,291 (GRCm39)	M75K	probably benign	Het
Aldh1a7	A	T	19: 20,673,693 (GRCm39)		probably benign	Het
Ankrd34c	G	A	9: 89,611,879 (GRCm39)	T154I	probably damaging	Het
Arrb2	A	G	11: 70,327,697 (GRCm39)	I120M	probably damaging	Het
Atp2a1	A	G	7: 126,049,437 (GRCm39)	V535A	probably benign	Het
Cckbr	G	T	7: 105,083,293 (GRCm39)	W165C	probably damaging	Het
Col12a1	A	T	9: 79,564,648 (GRCm39)	H1677Q	probably damaging	Het
Fancd2	T	C	6: 113,540,085 (GRCm39)	F658S	probably damaging	Het
Gm5581	A	T	6: 131,145,259 (GRCm39)		noncoding transcript	Het
H2-M3	A	G	17: 37,581,548 (GRCm39)	E70G	possibly damaging	Het
Hltf	A	G	3: 20,137,068 (GRCm39)		probably benign	Het
Ighv1-24	C	A	12: 114,736,673 (GRCm39)	V76F	probably benign	Het
Igkv1-110	A	T	6: 68,248,145 (GRCm39)	R85W	probably damaging	Het
Kif9	A	C	9: 110,314,138 (GRCm39)	R43S	probably benign	Het
Klf11	T	C	12: 24,710,368 (GRCm39)	I472T	probably benign	Het
Napsa	A	G	7: 44,236,089 (GRCm39)	Y376C	probably damaging	Het
Notch2	C	T	3: 98,053,934 (GRCm39)	A2199V	possibly damaging	Het
Or10a5	A	T	7: 106,636,318 (GRCm39)		probably benign	Het
Or1e30	A	G	11: 73,678,687 (GRCm39)	K308E	probably benign	Het
Pcnt	T	A	10: 76,256,080 (GRCm39)	D720V	probably damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptk6	T	C	2: 180,838,859 (GRCm39)	E298G	probably damaging	Het
Rbm27	T	A	18: 42,434,905 (GRCm39)	L323H	probably damaging	Het
Sall3	A	G	18: 81,014,484 (GRCm39)	L1076P	probably benign	Het
Susd1	T	C	4: 59,365,817 (GRCm39)	D412G	possibly damaging	Het
Ugdh	T	A	5: 65,574,248 (GRCm39)	M432L	probably benign	Het
Uggt2	C	T	14: 119,280,184 (GRCm39)	V765I	probably benign	Het
Unc13d	T	C	11: 115,964,692 (GRCm39)	Q258R	probably benign	Het
Wdfy3	A	T	5: 102,055,354 (GRCm39)	F1572Y	probably benign	Het
Xpo1	A	G	11: 23,235,846 (GRCm39)	T645A	probably benign	Het
Zer1	A	G	2: 29,991,843 (GRCm39)	V659A	probably damaging	Het

Other mutations in Sprr2h

Allele	Source	Chr	Coord	Type	Predicted Effect
R1869:Sprr2h	UTSW	3	92,293,925 (GRCm39)	start gained	probably benign
R6208:Sprr2h	UTSW	3	92,294,216 (GRCm39)	missense	unknown
R8034:Sprr2h	UTSW	3	92,294,120 (GRCm39)	missense	unknown

Posted On

2013-12-09