Mutagenetix > Incidental Mutation

Incidental Mutation 'R0907:Sprr3'

83348

Institutional Source

Beutler Lab

Gene Symbol

Sprr3

Ensembl Gene

ENSMUSG00000045539

Gene Name

small proline-rich protein 3

Synonyms

SPR3

MMRRC Submission

039065-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92363809-92366027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92364316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 176 (I176N)

Ref Sequence

ENSEMBL: ENSMUSP00000056287 (fasta)

Gene Model

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

AlphaFold

O09116

Predicted Effect

probably benign
Transcript: ENSMUST00000058142
AA Change: I176N

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000056287
Gene: ENSMUSG00000045539
AA Change: I176N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (34/34)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	G	A	1: 156,457,429 (GRCm39)	V225M	probably damaging	Het
Afmid	T	A	11: 117,726,416 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,735,901 (GRCm39)	V216I	probably benign	Het
Cep112	C	A	11: 108,461,258 (GRCm39)		probably benign	Het
Dcbld1	T	C	10: 52,137,910 (GRCm39)	V58A	possibly damaging	Het
Dop1b	A	T	16: 93,598,481 (GRCm39)	H1882L	probably damaging	Het
Fat1	A	G	8: 45,479,635 (GRCm39)	I2894V	probably benign	Het
Focad	T	C	4: 88,196,498 (GRCm39)		probably null	Het
Gm45713	G	A	7: 44,781,788 (GRCm39)	T203M	possibly damaging	Het
Gstm1	T	C	3: 107,924,696 (GRCm39)	Y28C	probably damaging	Het
Gucy1a1	T	C	3: 82,018,498 (GRCm39)	D113G	probably benign	Het
Hat1	G	T	2: 71,250,961 (GRCm39)	E170*	probably null	Het
Herc1	C	A	9: 66,340,710 (GRCm39)	F1686L	possibly damaging	Het
Iffo1	A	G	6: 125,130,124 (GRCm39)	E270G	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrp3	A	T	7: 34,902,718 (GRCm39)	Y522N	probably damaging	Het
Lrp6	A	T	6: 134,484,488 (GRCm39)	D378E	probably damaging	Het
Mmrn1	A	G	6: 60,950,103 (GRCm39)	N351S	probably benign	Het
Or1e16	A	T	11: 73,285,945 (GRCm39)	L301Q	probably damaging	Het
Or9q1	T	C	19: 13,805,220 (GRCm39)	D180G	probably damaging	Het
Pcnx3	T	C	19: 5,721,553 (GRCm39)	K1082E	possibly damaging	Het
Pikfyve	T	C	1: 65,241,989 (GRCm39)	V243A	possibly damaging	Het
Qdpr	G	C	5: 45,596,728 (GRCm39)	I145M	probably benign	Het
Rasgrp3	G	T	17: 75,816,822 (GRCm39)		probably null	Het
Rd3l	G	T	12: 111,946,574 (GRCm39)	Y1*	probably null	Het
Sf3b3	A	G	8: 111,538,142 (GRCm39)		probably benign	Het
Smn1	C	T	13: 100,264,404 (GRCm39)	T45I	probably damaging	Het
Sv2c	T	C	13: 96,224,763 (GRCm39)	D182G	probably damaging	Het
Tnni3k	A	T	3: 154,647,316 (GRCm39)	V397D	probably damaging	Het
Trpt1	G	T	19: 6,976,308 (GRCm39)	G235V	possibly damaging	Het
Ttll10	A	T	4: 156,120,621 (GRCm39)	C367*	probably null	Het
Unc5c	A	G	3: 141,494,794 (GRCm39)	Q369R	probably 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
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
R4503:Sprr3	UTSW	3	92,364,683 (GRCm39)	missense	possibly damaging	0.51
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'- TTACAGGAAAGACTTCAGCAGCAGG -3'
(R):5'- TGGGCCATGCTCTACCAACATCAC -3'

Sequencing Primer
(F):5'- TTCAGCAGCAGGTGGTCAG -3'
(R):5'- ACAATTCCTGGGCCATGC -3'

Posted On

2013-11-08