Mutagenetix > Incidental Mutations

Incidental Mutation 'R5378:Ccser2'

425709

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

MMRRC Submission

042953-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R5378 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36879434 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 331 (T331I)

Ref Sequence

ENSEMBL: ENSMUSP00000138718 (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: T884I

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: T884I

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: T221I

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183038
AA Change: T331I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
AA Change: T331I

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,578,277	F39L	probably benign	Het
Abca2	T	G	2: 25,446,068	L2150R	probably damaging	Het
Apob	T	A	12: 8,011,865	V3449D	probably damaging	Het
Arfgef2	T	A	2: 166,873,628	V1331D	probably damaging	Het
Bora	A	G	14: 99,068,493	N433D	probably damaging	Het
Cand2	G	A	6: 115,801,951	A1159T	probably benign	Het
Ccser1	C	T	6: 61,311,666	A271V	probably benign	Het
Cemip	A	G	7: 83,958,525	S758P	probably damaging	Het
Cenpf	C	T	1: 189,653,466	V2206I	possibly damaging	Het
Chrnb1	A	T	11: 69,785,181	S412T	probably benign	Het
Cks1b	A	C	3: 89,416,301	W54G	probably damaging	Het
Col5a3	C	T	9: 20,797,576	V630M	unknown	Het
Dnajb14	A	G	3: 137,885,378	D30G	probably benign	Het
Dpp8	T	C	9: 65,078,014	Y785H	probably damaging	Het
Dsel	T	A	1: 111,862,821		probably benign	Het
Dzip1	C	T	14: 118,911,393	M291I	probably damaging	Het
Esp8	G	A	17: 40,530,142	C98Y	unknown	Het
F11	C	A	8: 45,252,143	M120I	probably benign	Het
Fsip2	T	C	2: 82,989,841	F5306S	possibly damaging	Het
Gm4841	T	C	18: 60,271,041		probably null	Het
Gpr180	T	A	14: 118,139,839	L84Q	probably benign	Het
Grwd1	A	T	7: 45,830,081	D123E	probably benign	Het
Hsfy2	T	C	1: 56,636,668	R237G	probably benign	Het
Htr5a	A	G	5: 27,850,995	Y328C	probably damaging	Het
Klrb1f	G	A	6: 129,053,831	A127T	probably damaging	Het
Mcpt4	A	T	14: 56,062,293		probably null	Het
Muc5b	T	C	7: 141,862,203	V2962A	unknown	Het
Olfr1095	A	T	2: 86,851,463	N78K	probably benign	Het
Olfr601	T	A	7: 103,358,445	I250F	probably damaging	Het
Otog	A	T	7: 46,255,004	T518S	probably damaging	Het
Phgdh	A	T	3: 98,321,323		probably null	Het
Pip5kl1	A	T	2: 32,579,094	T213S	probably benign	Het
Plekhg2	G	A	7: 28,362,669	R594W	probably damaging	Het
Prg4	T	A	1: 150,455,226		probably benign	Het
Prpf40a	T	A	2: 53,145,876	D621V	probably damaging	Het
Ptprz1	A	T	6: 23,007,402	I1655F	probably damaging	Het
Rbm28	T	C	6: 29,128,559	K55E	probably damaging	Het
Rbm43	A	T	2: 51,925,621	V196E	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serinc4	T	A	2: 121,452,380	M434L	possibly damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc35f1	A	T	10: 52,691,061	H22L	possibly damaging	Het
Smg6	A	G	11: 75,041,994	D98G	possibly damaging	Het
Strbp	A	G	2: 37,599,174	Y527H	probably damaging	Het
Strbp	A	G	2: 37,600,806	V479A	probably benign	Het
Tcrg-C2	T	C	13: 19,305,127	Y145C	unknown	Het
Tdg	G	T	10: 82,641,471	V119L	probably benign	Het
Trav10d	G	A	14: 52,811,368	R72H	probably benign	Het
Trim25	T	C	11: 89,009,267	L280P	probably damaging	Het
Tsc22d4	A	G	5: 137,762,464	D49G	probably damaging	Het
Ttn	T	C	2: 76,890,190		probably benign	Het
Tyr	T	A	7: 87,472,495	H363L	probably damaging	Het
Ubr5	A	G	15: 37,989,578	S2020P	probably damaging	Het
Usp9y	T	C	Y: 1,315,928	D2069G	probably damaging	Het
Vmn1r170	T	C	7: 23,606,538	W122R	probably benign	Het
Wdr7	G	A	18: 63,825,239		probably null	Het
Ylpm1	T	A	12: 85,030,255	H793Q	probably damaging	Het
Zadh2	G	A	18: 84,094,678	A160T	probably damaging	Het
Zfp266	G	A	9: 20,499,363	T506I	probably damaging	Het
Zfp518a	T	C	19: 40,915,856	S1410P	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
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
R8356:Ccser2	UTSW	14	36890374	missense	probably benign	0.00
R8456:Ccser2	UTSW	14	36890374	missense	probably benign	0.00
X0066:Ccser2	UTSW	14	36940999	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTTCTTACATGTGGAAGTTC -3'
(R):5'- ACAGTTCAAGGCGTGTGTCC -3'

Sequencing Primer
(F):5'- CTACTTGGTGAGGAGTCAGAATC -3'
(R):5'- AAGCTGTACACATGGCTTGC -3'

Posted On

2016-08-04