Mutagenetix > Incidental Mutation

Incidental Mutation 'R5115:Sprr2b'

394143

Institutional Source

Beutler Lab

Gene Symbol

Sprr2b

Ensembl Gene

ENSMUSG00000050092

Gene Name

small proline-rich protein 2B

Synonyms

MMRRC Submission

042703-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92224012-92225448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92224862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 36 (C36F)

Ref Sequence

ENSEMBL: ENSMUSP00000058131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061038]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000061038
AA Change: C36F

SMART Domains

Protein: ENSMUSP00000058131
Gene: ENSMUSG00000050092
AA Change: C36F

Domain	Start	End	E-Value	Type
Pfam:SPRR2	2	51	2.9e-22	PFAM
Pfam:SPRR2	44	95	2.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193886

Meta Mutation Damage Score

0.1474

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	C	T	11: 54,231,324 (GRCm39)		probably null	Het
Asic1	C	T	15: 99,569,933 (GRCm39)	L85F	probably damaging	Het
Atic	G	A	1: 71,596,434 (GRCm39)		probably null	Het
Atp1b2	T	C	11: 69,494,299 (GRCm39)	T65A	probably damaging	Het
C2cd6	T	A	1: 59,090,420 (GRCm39)	I446L	probably benign	Het
Cep83	A	G	10: 94,604,751 (GRCm39)	H488R	probably benign	Het
Cwc15	A	G	9: 14,419,192 (GRCm39)	I163V	probably benign	Het
Cyp11b2	A	T	15: 74,727,277 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,187,159 (GRCm39)	V1229A	probably damaging	Het
Fbn1	T	C	2: 125,174,303 (GRCm39)	D1851G	probably damaging	Het
Golga7	A	T	8: 23,735,986 (GRCm39)		probably null	Het
Gsdmc2	A	T	15: 63,699,617 (GRCm39)	H270Q	probably benign	Het
Kdm4a	G	T	4: 118,019,778 (GRCm39)	P326Q	possibly damaging	Het
Kng1	G	A	16: 22,888,032 (GRCm39)	R209H	possibly damaging	Het
Mfn1	T	C	3: 32,618,456 (GRCm39)		probably null	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Nlrc5	G	A	8: 95,203,447 (GRCm39)	V516I	possibly damaging	Het
Nrbp1	T	G	5: 31,401,059 (GRCm39)	Y96*	probably null	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pikfyve	T	C	1: 65,263,276 (GRCm39)		probably benign	Het
Plin1	AGGCCACCAGGGGGTGGGC	AGGC	7: 79,379,692 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,608,444 (GRCm39)	Q3082R	probably benign	Het
Rbfox1	A	G	16: 7,227,636 (GRCm39)	S405G	probably damaging	Het
Recql	T	C	6: 142,304,285 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,113,651 (GRCm39)	E365G	probably damaging	Het
Slc17a5	A	G	9: 78,484,394 (GRCm39)	V122A	probably benign	Het
Stk36	T	C	1: 74,674,986 (GRCm39)	I1307T	probably damaging	Het
Tmc6	G	A	11: 117,666,014 (GRCm39)	T300I	probably damaging	Het
Ttll9	C	A	2: 152,831,510 (GRCm39)		probably benign	Het
Vmn1r71	T	A	7: 10,481,885 (GRCm39)	M202L	probably benign	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het

Other mutations in Sprr2b

Allele	Source	Chr	Coord	Type	Predicted Effect
R5236:Sprr2b	UTSW	3	92,224,943 (GRCm39)	missense	unknown
R7038:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R7575:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R7654:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R7731:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R7860:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R8408:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R8743:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R8807:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R8919:Sprr2b	UTSW	3	92,225,032 (GRCm39)	missense	unknown
R9050:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
R9574:Sprr2b	UTSW	3	92,224,826 (GRCm39)	small deletion	probably benign
RF040:Sprr2b	UTSW	3	92,224,871 (GRCm39)	frame shift	probably null
RF059:Sprr2b	UTSW	3	92,224,875 (GRCm39)	small deletion	probably benign
Z1176:Sprr2b	UTSW	3	92,224,976 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATTTGCATGCCCACATAGGTAC -3'
(R):5'- ACACTTCTGCTGGCATGGTG -3'

Sequencing Primer
(F):5'- ACACAGGGTTCTACAGTTCG -3'
(R):5'- CTGGCATGGTGGAAATTGCAC -3'

Posted On

2016-06-15