Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Sprr3'

201454

Institutional Source

Beutler Lab

Gene Symbol

Sprr3

Ensembl Gene

ENSMUSG00000045539

Gene Name

small proline-rich protein 3

Synonyms

SPR3

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

92363809-92366027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92364609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 78 (M78I)

Ref Sequence

ENSEMBL: ENSMUSP00000056287 (fasta)

Gene Model

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

AlphaFold

O09116

Predicted Effect

probably benign
Transcript: ENSMUST00000058142
AA Change: M78I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056287
Gene: ENSMUSG00000045539
AA Change: M78I

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: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (68/70)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Alpi	A	G	1: 87,028,881 (GRCm39)		probably benign	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Cmip	T	A	8: 118,153,293 (GRCm39)	I270N	probably damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah9	A	G	11: 66,050,866 (GRCm39)	V142A	probably benign	Het
Dnai4	A	T	4: 102,917,131 (GRCm39)	I571K	probably damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm10238	A	G	15: 75,109,434 (GRCm39)		noncoding transcript	Het
Gm4787	T	A	12: 81,425,840 (GRCm39)	D106V	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Ifna11	A	G	4: 88,738,512 (GRCm39)	D106G	possibly damaging	Het
Igkv1-115	G	A	6: 68,138,402 (GRCm39)	V2I	probably benign	Het
Itga6	T	C	2: 71,657,060 (GRCm39)		probably benign	Het
Kcnj6	C	A	16: 94,742,056 (GRCm39)	K5N	probably benign	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,380 (GRCm39)		probably null	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Orm3	A	G	4: 63,274,883 (GRCm39)	T64A	probably benign	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Phldb1	C	T	9: 44,619,201 (GRCm39)	R844H	probably damaging	Het
Piezo2	T	C	18: 63,235,155 (GRCm39)	D814G	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pth1r	A	T	9: 110,556,618 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Rnf32	A	G	5: 29,430,125 (GRCm39)	T315A	probably benign	Het
Rpl5	T	C	5: 108,049,766 (GRCm39)	Y12H	probably benign	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sf3a3	G	A	4: 124,608,748 (GRCm39)	V21I	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slitrk1	T	C	14: 109,150,749 (GRCm39)		probably benign	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Ssmem1	A	G	6: 30,519,420 (GRCm39)	E35G	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,644,771 (GRCm39)		probably null	Het
Tusc3	G	A	8: 39,530,421 (GRCm39)	G129R	possibly damaging	Het
Uspl1	A	G	5: 149,146,515 (GRCm39)	Y422C	probably damaging	Het
Vmn2r88	A	T	14: 51,651,597 (GRCm39)	T312S	probably benign	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zfp947	T	A	17: 22,365,165 (GRCm39)	T170S	probably benign	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
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
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'- AGGCATTCATGTAGCCAGGTTCAC -3'
(R):5'- TGAAGCAACCTTGTCAGCCTCC -3'

Sequencing Primer
(F):5'- TAGCCAGGTTCACGAACATTG -3'
(R):5'- TCCACCACAAGGAAAATTTGTTC -3'

Posted On

2014-06-10