Mutagenetix > Incidental Mutations

Incidental Mutation 'R6011:Ccser2'

479770

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

MMRRC Submission

043253-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R6011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36879575 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 837 (E837G)

Ref Sequence

ENSEMBL: ENSMUSP00000068550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067700] [ENSMUST00000090024] [ENSMUST00000182042] [ENSMUST00000182576] [ENSMUST00000182797] [ENSMUST00000183007] [ENSMUST00000183038] [ENSMUST00000183316]

Predicted Effect

probably benign
Transcript: ENSMUST00000067700
AA Change: E837G

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: E837G

Domain	Start	End	E-Value	Type
low complexity region	50	63	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
coiled coil region	157	194	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC
low complexity region	365	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090024

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690

Domain	Start	End	E-Value	Type
low complexity region	389	412	N/A	INTRINSIC
low complexity region	496	506	N/A	INTRINSIC
low complexity region	543	562	N/A	INTRINSIC
low complexity region	603	616	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
coiled coil region	710	747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182042

SMART Domains

Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
coiled coil region	138	175	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182558

Predicted Effect

probably benign
Transcript: ENSMUST00000182576

SMART Domains

Protein: ENSMUSP00000138318
Gene: ENSMUSG00000058690

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182797

SMART Domains

Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
coiled coil region	138	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183007
AA Change: E174G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000183038
AA Change: E284G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
AA Change: E284G

Domain	Start	End	E-Value	Type
low complexity region	50	63	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
coiled coil region	157	194	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC
low complexity region	365	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183316

SMART Domains

Protein: ENSMUSP00000138100
Gene: ENSMUSG00000058690

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
coiled coil region	78	115	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,245,744	N533K	probably benign	Het
Adamts15	G	T	9: 30,902,786	H694Q	probably damaging	Het
Adcy5	T	C	16: 35,157,228	L377P	probably benign	Het
Add2	T	C	6: 86,098,625	L252P	probably damaging	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 95,427,283		probably benign	Het
Ankrd13d	A	G	19: 4,281,934	L39P	probably damaging	Het
Asic1	G	T	15: 99,699,079	A541S	probably benign	Het
Bpifb2	A	G	2: 153,889,576		probably null	Het
Catsper3	A	G	13: 55,786,492	I75M	probably damaging	Het
Clasp2	C	T	9: 113,876,247	P557L	probably benign	Het
Clstn2	C	T	9: 97,456,526	R860Q	probably benign	Het
Cyp2c66	A	G	19: 39,141,936	K72E	probably benign	Het
Cyp3a44	A	G	5: 145,801,274		probably null	Het
Disp2	G	A	2: 118,790,820	V678I	possibly damaging	Het
Dock4	T	C	12: 40,817,757		probably null	Het
Eml3	T	C	19: 8,939,107	Y688H	probably damaging	Het
Fam129b	T	C	2: 32,922,865	Y482H	probably damaging	Het
Fam187a	A	G	11: 102,885,441	K24E	probably damaging	Het
Fhit	T	C	14: 9,870,068	K134E	probably benign	Het
Gm16485	A	T	9: 8,972,453		probably benign	Het
Gm5096	A	G	18: 87,756,539	E62G	probably damaging	Het
Gm5294	A	G	5: 138,821,619	*217W	probably null	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Gm9573	T	A	17: 35,622,182		probably benign	Het
Hmgxb3	G	A	18: 61,163,024	T304I	probably damaging	Het
Lgsn	A	G	1: 31,203,766	S310G	probably damaging	Het
Lman1l	A	T	9: 57,615,755	D140E	probably damaging	Het
Olfr1148	A	G	2: 87,833,915	N292S	probably damaging	Het
Olfr1290	C	A	2: 111,489,847	A104S	probably benign	Het
Olfr1505	G	A	19: 13,919,157	V46I	probably benign	Het
Olfr765	A	T	10: 129,046,639	H141Q	probably benign	Het
Olfr843	T	A	9: 19,248,511	E296V	probably damaging	Het
Pelo	A	G	13: 115,089,766	S52P	probably benign	Het
Prune2	A	G	19: 17,118,716	N528S	probably benign	Het
Rfc3	T	A	5: 151,643,719	I291L	probably damaging	Het
Rpl35	A	T	2: 39,004,801		probably null	Het
Sectm1b	C	T	11: 121,055,878	V64I	possibly damaging	Het
Serpina12	A	G	12: 104,035,734	M241T	probably damaging	Het
Serpina1a	T	A	12: 103,857,469	D195V	probably damaging	Het
Sesn2	C	T	4: 132,499,397	V129M	probably damaging	Het
Slc4a1	A	C	11: 102,352,531	V758G	probably damaging	Het
Tmx4	A	T	2: 134,639,836	Y56N	probably damaging	Het
Traj50	T	C	14: 54,167,634		probably benign	Het
Trio	T	G	15: 27,735,545	K2820Q	probably damaging	Het
Ttc28	G	A	5: 111,286,443	G2417S	probably benign	Het
Usp32	T	C	11: 85,032,097	D665G	possibly damaging	Het

Other mutations in Ccser2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Ccser2	APN	14	36940064	missense	probably damaging	1.00
IGL01285:Ccser2	APN	14	36938669	missense	probably damaging	1.00
IGL01622:Ccser2	APN	14	36940963	missense	probably benign	0.03
IGL01623:Ccser2	APN	14	36940963	missense	probably benign	0.03
IGL02322:Ccser2	APN	14	36909129	missense	probably damaging	1.00
IGL02342:Ccser2	APN	14	36918605	splice site	probably benign
IGL02899:Ccser2	APN	14	36940759	missense	probably benign	0.39
R0433:Ccser2	UTSW	14	36918529	missense	probably damaging	1.00
R0543:Ccser2	UTSW	14	36940192	missense	probably benign
R0674:Ccser2	UTSW	14	36918591	missense	possibly damaging	0.94
R0853:Ccser2	UTSW	14	36940410	missense	probably benign	0.18
R0964:Ccser2	UTSW	14	36909008	splice site	probably benign
R1748:Ccser2	UTSW	14	36896313	missense	probably damaging	1.00
R1748:Ccser2	UTSW	14	36896314	nonsense	probably null
R1854:Ccser2	UTSW	14	36918591	missense	possibly damaging	0.94
R2405:Ccser2	UTSW	14	36938669	missense	probably damaging	1.00
R2926:Ccser2	UTSW	14	36879561	missense	possibly damaging	0.91
R3846:Ccser2	UTSW	14	36940288	missense	probably benign
R4298:Ccser2	UTSW	14	36890380	missense	possibly damaging	0.63
R4701:Ccser2	UTSW	14	36938697	missense	probably damaging	1.00
R4746:Ccser2	UTSW	14	36909125	missense	probably damaging	1.00
R4888:Ccser2	UTSW	14	36940386	missense	probably damaging	0.98
R4959:Ccser2	UTSW	14	36940796	missense	probably benign	0.00
R5020:Ccser2	UTSW	14	36940177	missense	probably benign	0.00
R5179:Ccser2	UTSW	14	36879351	missense	possibly damaging	0.79
R5378:Ccser2	UTSW	14	36879434	missense	possibly damaging	0.65
R6057:Ccser2	UTSW	14	36941165	missense	probably damaging	0.98
R6180:Ccser2	UTSW	14	36940319	missense	probably benign
R6216:Ccser2	UTSW	14	36940508	missense	probably damaging	1.00
R6244:Ccser2	UTSW	14	36940718	missense	probably benign	0.00
R6266:Ccser2	UTSW	14	36879675	missense	probably damaging	1.00
R6730:Ccser2	UTSW	14	36879086	missense	probably damaging	1.00
R6862:Ccser2	UTSW	14	36940081	missense	probably benign
R7025:Ccser2	UTSW	14	36940007	missense	probably damaging	1.00
R7076:Ccser2	UTSW	14	36939829	missense	probably benign	0.14
R7092:Ccser2	UTSW	14	36940655	missense	probably benign	0.03
R7353:Ccser2	UTSW	14	36941143	missense	possibly damaging	0.91
R7440:Ccser2	UTSW	14	36898217	missense	possibly damaging	0.92
R7509:Ccser2	UTSW	14	36938645	missense	probably damaging	1.00
R7555:Ccser2	UTSW	14	36879500	missense	possibly damaging	0.65
R7770:Ccser2	UTSW	14	36926874	missense	probably damaging	1.00
X0066:Ccser2	UTSW	14	36940999	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGGACATTGGTTTCTTCCACC -3'
(R):5'- AAGTACTACAGCCTTCCAGCAG -3'

Sequencing Primer
(F):5'- GTCCACTGTACTTGACTGGGAAG -3'
(R):5'- GCAGCCTTCCCAGATCTACAG -3'

Posted On

2017-06-26