Mutagenetix > Incidental Mutations

Incidental Mutation 'R8356:Ccser2'

645794

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R8356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36890374 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 792 (M792K)

Ref Sequence

ENSEMBL: ENSMUSP00000087478 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000067700

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690

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
AA Change: M792K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: M792K

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
AA Change: M220K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690
AA Change: M220K

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: 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
AA Change: M220K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690
AA Change: M220K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183038

SMART Domains

Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690

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
AA Change: M160K

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

SMART Domains

Protein: ENSMUSP00000138100
Gene: ENSMUSG00000058690
AA Change: M160K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,006,526	E1098G	probably benign	Het
Akap1	T	A	11: 88,834,731		probably null	Het
Arhgap26	T	C	18: 39,111,848	V182A	possibly damaging	Het
Arhgef19	A	G	4: 141,250,615	K545R	probably benign	Het
Asph	C	T	4: 9,537,722	R352Q	probably benign	Het
B3glct	T	A	5: 149,726,789	I119N	probably damaging	Het
Camsap3	C	T	8: 3,600,679	R236*	probably null	Het
Ceacam5	C	T	7: 17,745,699	T247I	possibly damaging	Het
Dnah9	A	G	11: 66,156,938	S19P	probably damaging	Het
Dtwd1	A	G	2: 126,158,531	E129G	probably damaging	Het
Ebf3	T	A	7: 137,199,187	M490L	probably benign	Het
Erbb4	A	G	1: 68,071,630	L1008S	probably damaging	Het
Ereg	C	T	5: 91,090,134	P160S	possibly damaging	Het
Exoc6b	ATTT	ATTTT	6: 84,844,095		probably null	Het
Fmn1	A	G	2: 113,365,040	T362A	unknown	Het
Gm10436	T	A	12: 88,177,216	T284S	probably benign	Het
Gm14326	A	T	2: 177,948,519	D16E	probably benign	Het
H1foo	A	T	6: 115,948,784	M181L	probably benign	Het
Herc6	A	T	6: 57,598,563	T190S	probably benign	Het
Hist1h3a	A	T	13: 23,762,100	F85Y	probably damaging	Het
Lama1	T	G	17: 67,737,496	I130S		Het
Letm2	T	C	8: 25,581,713	D391G	probably damaging	Het
Map3k9	T	C	12: 81,734,118	I423V	probably damaging	Het
Melk	T	A	4: 44,312,191	C168S	possibly damaging	Het
Muc4	CAC	CACTAC	16: 32,754,076		probably benign	Het
Naa16	A	T	14: 79,359,475	N356K	probably benign	Het
Nup214	A	G	2: 32,039,360	N1873S	probably benign	Het
Olfr1392	C	T	11: 49,293,558	P79L	probably damaging	Het
Olfr890	T	A	9: 38,143,685	C178*	probably null	Het
Pom121	A	G	5: 135,381,178	F1042L	unknown	Het
Pxdn	T	C	12: 30,011,890	S1334P	probably damaging	Het
Ranbp1	C	T	16: 18,245,306	E69K	probably damaging	Het
Rasl11a	T	C	5: 146,845,235	S7P	probably damaging	Het
Rev1	G	A	1: 38,059,243	R740*	probably null	Het
Rnf157	C	T	11: 116,349,420	V443M	probably benign	Het
Scn3a	T	A	2: 65,460,673	T1910S	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Siah2	T	C	3: 58,676,082	N261S	probably benign	Het
Sumf2	T	G	5: 129,860,162	W264G	possibly damaging	Het
Tal1	G	T	4: 115,063,428	A100S	probably benign	Het
Tox2	G	T	2: 163,204,630	R9L	unknown	Het
Traj46	A	G	14: 54,172,338	E1G		Het
Uhrf1bp1l	A	G	10: 89,812,092	T1339A	probably benign	Het
Unc80	A	G	1: 66,641,629	D2128G	possibly damaging	Het
Usp21	A	T	1: 171,284,717	F308I	probably damaging	Het
Vgf	A	T	5: 137,032,411	I476F	probably damaging	Het
Vmn1r142	T	A	7: 22,163,323	H238L	probably benign	Het
Vps35	G	A	8: 85,261,305	T739I	possibly damaging	Het
Wdr95	G	T	5: 149,579,107	C279F	probably damaging	Het
Zbtb32	T	C	7: 30,589,956	S94G	unknown	Het
Zdhhc13	T	A	7: 48,802,999	I153N	probably 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
R6011:Ccser2	UTSW	14	36879575	missense	probably benign	0.17
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
R8103:Ccser2	UTSW	14	36896283	missense	probably damaging	1.00
R8194:Ccser2	UTSW	14	36896263	missense	probably damaging	1.00
R8456:Ccser2	UTSW	14	36890374	missense	probably benign	0.00
X0066:Ccser2	UTSW	14	36940999	nonsense	probably null

Predicted Primers

Posted On

2020-09-02