Mutagenetix > Incidental Mutations

Incidental Mutation 'R1857:Trove2'

206194

Institutional Source

Beutler Lab

Gene Symbol

Trove2

Ensembl Gene

ENSMUSG00000018199

Gene Name

TROVE domain family, member 2

Synonyms

1810007I17Rik, A530054J02Rik, SS-A/Ro, Ssa, Ssa2

MMRRC Submission

039881-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143750790-143777068 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143770750 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 86 (T86A)

Ref Sequence

ENSEMBL: ENSMUSP00000125623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159879]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000018343

Predicted Effect

probably benign
Transcript: ENSMUST00000159879
AA Change: T86A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125623
Gene: ENSMUSG00000018199
AA Change: T86A

Domain	Start	End	E-Value	Type
Pfam:TROVE	16	369	9.7e-99	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	A	8: 111,040,157	I57N	probably damaging	Het
Abca15	T	C	7: 120,361,369	S685P	probably damaging	Het
Adpgk	G	T	9: 59,314,965	V392L	probably benign	Het
Akap14	C	T	X: 37,157,126	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,531,554	I246N	probably damaging	Het
Amhr2	T	A	15: 102,446,777	L165*	probably null	Het
Atr	T	A	9: 95,865,097	I144N	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,573	Y410C	probably damaging	Het
C87977	C	T	4: 144,208,521	V217I	possibly damaging	Het
Ccdc33	T	C	9: 58,032,708	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,323,297	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,653,408	V774F	probably damaging	Het
Cfap69	G	T	5: 5,582,518	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,450,073	H101R	probably damaging	Het
Crebrf	T	A	17: 26,742,963	Y345N	probably benign	Het
Cyb5r4	C	T	9: 87,041,279	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,659,486	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,566,850	I296F	probably benign	Het
Dse	T	C	10: 34,153,229	T622A	probably benign	Het
Dync1h1	T	A	12: 110,662,625	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,782,197	L71V	probably damaging	Het
Eif3h	T	C	15: 51,799,278	Y124C	probably damaging	Het
Eif4g3	A	T	4: 138,175,876	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,357,109	H360L	probably benign	Het
Fbxo38	A	G	18: 62,515,418	I683T	probably damaging	Het
Frem2	T	A	3: 53,654,873	T738S	probably benign	Het
Gm1527	A	T	3: 28,903,390	T148S	probably damaging	Het
Gm4894	T	C	9: 49,278,676	S84P	unknown	Het
Gm4981	A	G	10: 58,235,780	V204A	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il1f10	A	T	2: 24,292,805	D31V	possibly damaging	Het
Lrrc56	A	G	7: 141,207,508	M353V	probably benign	Het
Meiob	T	C	17: 24,823,570	V124A	probably damaging	Het
Mmp11	A	T	10: 75,928,357	D91E	probably benign	Het
Mpped2	T	C	2: 106,783,644	Y108H	probably damaging	Het
Mroh9	A	G	1: 163,039,145	V674A	probably damaging	Het
Mtor	G	T	4: 148,480,879	Q1015H	probably damaging	Het
Mylk3	G	A	8: 85,328,594	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474	H277Q	probably benign	Het
Neurl4	G	T	11: 69,905,535	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,633	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,770,376	D217V	probably benign	Het
Nphp3	T	C	9: 104,021,294	I432T	possibly damaging	Het
Olfr1123	T	C	2: 87,418,648	L198P	probably damaging	Het
Olfr1367	A	G	13: 21,347,176	M83V	possibly damaging	Het
Olfr681	T	G	7: 105,121,544	L29R	probably benign	Het
Oprd1	T	G	4: 132,113,681	D322A	probably damaging	Het
Pcdh10	C	A	3: 45,379,937	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,506,045	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,451,100	M60I	probably benign	Het
Pigc	T	G	1: 161,970,877	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,040,669	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 20,961,689	S490P	possibly damaging	Het
Ppp2r3a	T	A	9: 101,212,893	N77I	probably damaging	Het
Prl7a2	A	T	13: 27,659,180	C213*	probably null	Het
Prpf8	T	A	11: 75,495,423		probably null	Het
Psmd7	A	T	8: 107,584,893	N109K	probably damaging	Het
Ptprn	T	C	1: 75,247,905	K936E	possibly damaging	Het
Ror1	A	T	4: 100,441,503	Q691L	probably damaging	Het
Sars2	A	G	7: 28,750,012	M322V	probably benign	Het
Scfd2	C	A	5: 74,212,301	E638*	probably null	Het
Scgb3a2	A	G	18: 43,766,835	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,166,735	S242P	probably benign	Het
Smarcd1	A	G	15: 99,709,414	K382E	probably damaging	Het
Sox5	T	A	6: 143,960,815	S305C	probably damaging	Het
Sp5	C	A	2: 70,476,869	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,095,438	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,452,552	F383L	probably damaging	Het
Ttc23	T	C	7: 67,679,073		probably null	Het
Ugt2b34	T	C	5: 86,904,382	T252A	possibly damaging	Het
Vangl2	A	T	1: 172,009,897	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,844,615	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,569,102	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,814,857	T281R	probably damaging	Het
Zscan30	A	G	18: 23,971,467		noncoding transcript	Het

Other mutations in Trove2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Trove2	APN	1	143761382	missense	probably benign	0.29
IGL01578:Trove2	APN	1	143761300	missense	probably damaging	0.99
IGL02006:Trove2	APN	1	143760346	splice site	probably benign
IGL02155:Trove2	APN	1	143761269	critical splice donor site	probably null
IGL02219:Trove2	APN	1	143761275	missense	possibly damaging	0.94
IGL02637:Trove2	APN	1	143770788	missense	probably damaging	1.00
IGL03013:Trove2	APN	1	143770708	missense	probably damaging	1.00
IGL03075:Trove2	APN	1	143770771	missense	probably benign
R0415:Trove2	UTSW	1	143760075	missense	probably benign	0.00
R0443:Trove2	UTSW	1	143765923	splice site	probably benign
R0479:Trove2	UTSW	1	143757751	missense	possibly damaging	0.72
R1696:Trove2	UTSW	1	143757837	missense	probably damaging	0.99
R1728:Trove2	UTSW	1	143760014	missense	probably benign
R1728:Trove2	UTSW	1	143760034	missense	probably benign
R1729:Trove2	UTSW	1	143760014	missense	probably benign
R1729:Trove2	UTSW	1	143760034	missense	probably benign
R1730:Trove2	UTSW	1	143760014	missense	probably benign
R1730:Trove2	UTSW	1	143760034	missense	probably benign
R1739:Trove2	UTSW	1	143760014	missense	probably benign
R1739:Trove2	UTSW	1	143760034	missense	probably benign
R1762:Trove2	UTSW	1	143760014	missense	probably benign
R1762:Trove2	UTSW	1	143760034	missense	probably benign
R1783:Trove2	UTSW	1	143760014	missense	probably benign
R1783:Trove2	UTSW	1	143760034	missense	probably benign
R1784:Trove2	UTSW	1	143760014	missense	probably benign
R1784:Trove2	UTSW	1	143760034	missense	probably benign
R1785:Trove2	UTSW	1	143760014	missense	probably benign
R1785:Trove2	UTSW	1	143760034	missense	probably benign
R2049:Trove2	UTSW	1	143760034	missense	probably benign
R2130:Trove2	UTSW	1	143760034	missense	probably benign
R2131:Trove2	UTSW	1	143760034	missense	probably benign
R2133:Trove2	UTSW	1	143760034	missense	probably benign
R2141:Trove2	UTSW	1	143760034	missense	probably benign
R2142:Trove2	UTSW	1	143760034	missense	probably benign
R2372:Trove2	UTSW	1	143770882	nonsense	probably null
R2929:Trove2	UTSW	1	143757878	missense	possibly damaging	0.92
R4191:Trove2	UTSW	1	143770786	missense	probably benign	0.00
R5520:Trove2	UTSW	1	143770771	missense	probably benign
R5821:Trove2	UTSW	1	143766765	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACATGCCACACTTCATGCTC -3'
(R):5'- TTGCAGCCACTGAGTGAGAC -3'

Sequencing Primer
(F):5'- CTCCTTCAGGTCTTTCTTAAACTGG -3'
(R):5'- TGTATGGCAGGTCACCGACATG -3'

Posted On

2014-06-23