Mutagenetix > Incidental Mutation

Incidental Mutation 'R6208:Sprr2h'

503247

Institutional Source

Beutler Lab

Gene Symbol

Sprr2h

Ensembl Gene

ENSMUSG00000046259

Gene Name

small proline-rich protein 2H

Synonyms

MMRRC Submission

044342-MU

Accession Numbers

Essential gene?

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

Stock #

R6208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92385685-92387324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92386909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 21 (V21A)

Ref Sequence

ENSEMBL: ENSMUSP00000141424 (fasta)

Gene Model

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

AlphaFold

O70559

Predicted Effect

unknown
Transcript: ENSMUST00000059845
AA Change: V93A

SMART Domains

Protein: ENSMUSP00000053849
Gene: ENSMUSG00000046259
AA Change: V93A

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: V21A

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	T	3: 32,711,894	I18F	probably benign	Het
Apol11a	C	T	15: 77,517,041	R243C	probably damaging	Het
Asap3	A	G	4: 136,241,197	M687V	probably benign	Het
Axdnd1	C	T	1: 156,392,856		probably benign	Het
Baz2b	A	G	2: 59,924,806	F1026S	probably damaging	Het
Bsg	T	C	10: 79,708,838	L70P	probably damaging	Het
Col10a1	A	G	10: 34,394,586	N185D	possibly damaging	Het
Col6a2	T	A	10: 76,615,057	N50I	possibly damaging	Het
Cux2	G	A	5: 121,860,822	P1352S	possibly damaging	Het
Defa25	A	G	8: 21,085,181		probably null	Het
Emc1	G	T	4: 139,354,271	R70L	probably damaging	Het
Fat1	T	C	8: 45,027,613	F3028S	probably damaging	Het
Fhit	T	C	14: 9,573,435	E205G	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gm20830	T	G	Y: 6,916,792	E109A	probably benign	Homo
Grm1	A	T	10: 10,719,946	F646Y	probably damaging	Het
Hp1bp3	A	G	4: 138,217,170		probably benign	Het
Lce1d	G	A	3: 92,686,005	P34S	unknown	Het
Lpar1	G	A	4: 58,504,630	Q13*	probably null	Het
Lrrc61	C	T	6: 48,568,905	R221*	probably null	Het
Map2	A	G	1: 66,431,590	N328D	probably damaging	Het
Mndal	T	A	1: 173,857,422	D527V	possibly damaging	Het
Mycbp2	T	G	14: 103,295,228	N430T	probably benign	Het
Myo1e	A	G	9: 70,376,605	Y861C	probably damaging	Het
Nav2	A	G	7: 49,564,103	T1622A	probably damaging	Het
Nom1	A	T	5: 29,449,619	H773L	possibly damaging	Het
Npc2	G	T	12: 84,757,145	P144Q	probably damaging	Het
Npnt	A	G	3: 132,950,013		probably benign	Het
Nxpe4	A	T	9: 48,393,378	Y255F	probably benign	Het
Obscn	G	A	11: 59,067,648	A3769V	possibly damaging	Het
Optc	T	C	1: 133,904,999	D121G	probably damaging	Het
Pard6a	T	C	8: 105,702,234	F26L	probably damaging	Het
Pcdhga4	T	A	18: 37,686,709	I437N	probably damaging	Het
Phf12	G	T	11: 78,023,591	V71F	probably damaging	Het
Phf21b	T	A	15: 84,795,116	S282C	probably damaging	Het
Pou5f1	T	C	17: 35,510,460	F323S	possibly damaging	Het
Psmd5	A	T	2: 34,867,011	I67N	probably damaging	Het
Pyroxd1	A	G	6: 142,357,456	K273R	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpusd1	A	T	17: 25,730,378	H174L	probably damaging	Het
Ryr2	T	C	13: 11,895,220	K94R	probably benign	Het
Scn2b	A	G	9: 45,118,030	R3G	probably benign	Het
Sf3b2	A	T	19: 5,275,098	M782K	possibly damaging	Het
Skint7	A	G	4: 111,984,876		probably null	Het
Slc43a1	A	G	2: 84,856,840	I319V	possibly damaging	Het
Snupn	T	A	9: 56,982,963	M356K	probably damaging	Het
Spata31d1a	C	A	13: 59,700,564	R1250M	probably damaging	Het
Srpr	A	G	9: 35,215,995	T614A	possibly damaging	Het
Stk36	A	T	1: 74,611,432	Q327L	probably benign	Het
Syne3	A	G	12: 104,943,363	I738T	probably benign	Het
Tcea3	A	T	4: 136,248,049	M1L	probably damaging	Het
Tead2	G	T	7: 45,218,102	R85L	probably damaging	Het
Thap7	T	C	16: 17,528,436	N228D	possibly damaging	Het
Trip11	T	A	12: 101,898,895	E173V	probably damaging	Het
Ttc38	T	A	15: 85,841,497	M187K	possibly damaging	Het
Vmn1r193	T	A	13: 22,218,968	T285S	possibly damaging	Het
Vmn2r106	T	C	17: 20,268,329	T603A	probably damaging	Het
Vps39	A	T	2: 120,333,416	M355K	probably damaging	Het
Wnt5b	G	T	6: 119,446,512	L51I	probably damaging	Het
Xxylt1	A	G	16: 31,007,808	Y230H	probably benign	Het

Other mutations in Sprr2h

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01630:Sprr2h	APN	3	92386951	missense	unknown
R1869:Sprr2h	UTSW	3	92386618	start gained	probably benign
R8034:Sprr2h	UTSW	3	92386813	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAGTGCCCAGAGCCTTGTC -3'
(R):5'- TATTCTCAGTATCTGCTTGACAGC -3'

Sequencing Primer
(F):5'- GAGCCTTGTCCTCCCCCAAAG -3'
(R):5'- CTTTCAGGAGTTATCACAGGCAC -3'

Posted On

2018-02-27