Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Snapc2'

402558

Institutional Source

Beutler Lab

Gene Symbol

Snapc2

Ensembl Gene

ENSMUSG00000011837

Gene Name

small nuclear RNA activating complex, polypeptide 2

Synonyms

0610007H10Rik

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4303102-4306220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4305299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 147 (V147E)

Ref Sequence

ENSEMBL: ENSMUSP00000146560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003029] [ENSMUST00000011981] [ENSMUST00000053252] [ENSMUST00000110993] [ENSMUST00000145165] [ENSMUST00000208459] [ENSMUST00000208316]

AlphaFold

Q91XA5

Predicted Effect

probably benign
Transcript: ENSMUST00000003029

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949

Domain	Start	End	E-Value	Type
coiled coil region	60	117	N/A	INTRINSIC
Tim44	296	445	9.67e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000011981
AA Change: V227E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000011981
Gene: ENSMUSG00000011837
AA Change: V227E

Domain	Start	End	E-Value	Type
Pfam:SnAPC_2_like	1	356	5.9e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053252

SMART Domains

Protein: ENSMUSP00000057115
Gene: ENSMUSG00000048644

Domain	Start	End	E-Value	Type
Pfam:Cortexin	7	82	7.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110993

SMART Domains

Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
Pfam:Zona_pellucida	16	161	6.6e-15	PFAM
low complexity region	210	224	N/A	INTRINSIC
low complexity region	227	263	N/A	INTRINSIC
low complexity region	269	276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142865

Predicted Effect

probably benign
Transcript: ENSMUST00000145165

SMART Domains

Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000208459
AA Change: V147E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208316
AA Change: V117E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000208110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208029

Meta Mutation Damage Score

0.1196

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,226,839 (GRCm39)	R465*	probably null	Het
Abcg3	A	T	5: 105,114,649 (GRCm39)	D289E	probably damaging	Het
Ablim2	G	T	5: 36,024,115 (GRCm39)		probably null	Het
Acp1	A	T	12: 30,955,078 (GRCm39)	V36D	probably benign	Het
Adgrb1	T	A	15: 74,449,348 (GRCm39)		probably benign	Het
Akap6	G	A	12: 52,933,329 (GRCm39)	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,609,715 (GRCm39)		probably benign	Het
Bmp1	G	A	14: 70,717,605 (GRCm39)	R789W	probably damaging	Het
Catspere2	A	T	1: 177,976,474 (GRCm39)		probably benign	Het
Cfhr2	T	A	1: 139,749,520 (GRCm39)	Y154F	possibly damaging	Het
Cilp2	T	C	8: 70,336,015 (GRCm39)	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,584,516 (GRCm39)	K513*	probably null	Het
Dennd4a	G	T	9: 64,796,210 (GRCm39)	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,655,085 (GRCm39)	S542T	probably benign	Het
Dmbt1	A	T	7: 130,696,465 (GRCm39)	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,353,130 (GRCm39)	E2761V	possibly damaging	Het
F11	T	C	8: 45,708,341 (GRCm39)	T40A	probably benign	Het
Fam227a	T	C	15: 79,520,936 (GRCm39)	D296G	possibly damaging	Het
Fance	C	T	17: 28,534,589 (GRCm39)		probably benign	Het
Gaa	A	G	11: 119,167,669 (GRCm39)	D149G	probably damaging	Het
Gapt	A	G	13: 110,490,522 (GRCm39)	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,813,774 (GRCm39)	N202D	probably damaging	Het
Gm7535	T	C	17: 18,131,809 (GRCm39)		probably benign	Het
Gm973	T	A	1: 59,601,859 (GRCm39)	M491K	probably benign	Het
Gmnc	A	G	16: 26,782,695 (GRCm39)	V27A	probably benign	Het
Kif27	T	C	13: 58,440,915 (GRCm39)	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,248,331 (GRCm39)	*189C	probably null	Het
Lime1	T	A	2: 181,024,640 (GRCm39)	M98K	probably benign	Het
Lrp1	C	A	10: 127,391,965 (GRCm39)	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,908,735 (GRCm39)	S669N	probably benign	Het
Mmel1	A	G	4: 154,976,456 (GRCm39)	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,198,535 (GRCm39)	L206V	probably damaging	Het
Nagpa	C	T	16: 5,021,596 (GRCm39)	A52T	probably benign	Het
Or1o3	A	G	17: 37,573,919 (GRCm39)	V212A	probably benign	Het
Or4c3	T	G	2: 89,851,528 (GRCm39)	D294A	probably benign	Het
Orai2	A	G	5: 136,190,355 (GRCm39)	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,502,209 (GRCm39)	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,138,986 (GRCm39)	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,613,011 (GRCm39)	V657A	probably benign	Het
Prdm15	G	T	16: 97,609,875 (GRCm39)	H590N	probably damaging	Het
Psg18	T	C	7: 18,079,874 (GRCm39)	I442M	probably damaging	Het
Pygm	C	A	19: 6,439,494 (GRCm39)	D279E	probably benign	Het
Rrn3	T	A	16: 13,610,798 (GRCm39)		probably null	Het
Sass6	T	C	3: 116,407,702 (GRCm39)	S273P	possibly damaging	Het
Schip1	A	G	3: 68,402,270 (GRCm39)	M116V	probably benign	Het
Sdc3	G	A	4: 130,546,087 (GRCm39)	V55I	unknown	Het
Serpinb8	T	A	1: 107,525,201 (GRCm39)	M1K	probably null	Het
Slc24a5	T	C	2: 124,927,739 (GRCm39)	I346T	probably damaging	Het
Slc35f3	T	A	8: 127,117,846 (GRCm39)	I335N	probably damaging	Het
Snx2	T	C	18: 53,322,784 (GRCm39)	S56P	possibly damaging	Het
Sptbn5	A	G	2: 119,915,812 (GRCm39)		probably benign	Het
Stk19	A	T	17: 35,040,400 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,911,702 (GRCm39)	E692G	probably benign	Het
Tet1	C	T	10: 62,674,450 (GRCm39)	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406 (GRCm39)	T1639A	probably benign	Het
Tmem135	G	T	7: 88,845,335 (GRCm39)	Y165*	probably null	Het
Tmprss6	T	C	15: 78,336,707 (GRCm39)	T398A	probably damaging	Het
Ube4a	C	T	9: 44,851,258 (GRCm39)		probably null	Het
Vmn1r227	T	C	17: 20,955,499 (GRCm39)		noncoding transcript	Het
Wdhd1	T	C	14: 47,488,273 (GRCm39)	S745G	probably benign	Het
Xylt1	A	G	7: 117,191,263 (GRCm39)	H353R	probably damaging	Het
Zfp788	A	G	7: 41,298,980 (GRCm39)	T539A	probably benign	Het
Zfp866	A	T	8: 70,218,091 (GRCm39)	F510I	possibly damaging	Het

Other mutations in Snapc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0279:Snapc2	UTSW	8	4,304,979 (GRCm39)	splice site	probably benign
R0611:Snapc2	UTSW	8	4,305,676 (GRCm39)	missense	probably benign	0.00
R4670:Snapc2	UTSW	8	4,304,998 (GRCm39)	missense	possibly damaging	0.93
R4745:Snapc2	UTSW	8	4,304,578 (GRCm39)	missense	probably damaging	1.00
R7567:Snapc2	UTSW	8	4,305,314 (GRCm39)	missense	probably damaging	1.00
R8055:Snapc2	UTSW	8	4,304,322 (GRCm39)	missense	probably damaging	1.00
R8803:Snapc2	UTSW	8	4,305,558 (GRCm39)	missense	probably damaging	1.00
R9493:Snapc2	UTSW	8	4,304,591 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGCATCTGAAGGTTCTGG -3'
(R):5'- GCCATGAGCAGGTTAAGGAC -3'

Sequencing Primer
(F):5'- AAGGTTCTGGGCCTGTCC -3'
(R):5'- GTTAAGGACCACAGCTGACTCTG -3'

Posted On

2016-07-22