Mutagenetix > Incidental Mutations

Incidental Mutation 'R4298:Ccser2'

323440

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

MMRRC Submission

041086-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R4298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36890380 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 158 (Q158L)

Ref Sequence

ENSEMBL: ENSMUSP00000138100 (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: Q790L

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: Q790L

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: Q218L

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690
AA Change: Q218L

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
AA Change: Q218L

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690
AA Change: Q218L

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

possibly damaging
Transcript: ENSMUST00000183316
AA Change: Q158L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138100
Gene: ENSMUSG00000058690
AA Change: Q158L

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

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 86,531,525		probably null	Het
Cct7	T	A	6: 85,468,173	C469S	probably damaging	Het
Chmp7	A	T	14: 69,719,201		probably null	Het
Clcn4	C	T	7: 7,296,738	D31N	possibly damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Ctdp1	A	T	18: 80,449,957	V441E	probably benign	Het
Cyp4a10	T	C	4: 115,532,692	L498P	probably damaging	Het
Dsc3	A	T	18: 19,980,754	N370K	possibly damaging	Het
Dusp12	G	A	1: 170,880,629	T173M	probably benign	Het
Ebf3	C	T	7: 137,225,229	R318Q	possibly damaging	Het
Epcam	T	C	17: 87,640,534		probably null	Het
Erich6	G	T	3: 58,624,291	A428D	probably benign	Het
Ext1	A	T	15: 53,345,125	I80N	probably benign	Het
Extl1	T	C	4: 134,357,658	E667G	probably damaging	Het
F2	T	G	2: 91,629,320		probably null	Het
Fbxw16	T	C	9: 109,446,557	I135V	probably benign	Het
Glipr1l1	A	T	10: 112,062,347	D119V	probably benign	Het
Gprc5b	G	A	7: 118,984,214	A144V	possibly damaging	Het
Lmbrd2	G	A	15: 9,165,795	R252H	possibly damaging	Het
Lyst	A	G	13: 13,634,887	T381A	probably damaging	Het
Mcpt4	A	T	14: 56,060,987	V97D	possibly damaging	Het
Nefh	A	G	11: 4,940,066	I851T	probably benign	Het
Nf1	A	T	11: 79,384,244	I44F	probably damaging	Het
Nyap2	A	T	1: 81,241,096	I278F	probably damaging	Het
Olfr1263	A	T	2: 90,015,649	T240S	probably benign	Het
Olfr268-ps1	G	T	2: 111,844,444		noncoding transcript	Het
Pdcd4	C	A	19: 53,919,661	P201Q	probably damaging	Het
Pramef25	A	T	4: 143,949,143	L371*	probably null	Het
Prdm11	T	C	2: 92,993,383	T179A	probably benign	Het
Qrfpr	T	A	3: 36,189,554	I133F	probably damaging	Het
Rack1	T	C	11: 48,801,626		probably benign	Het
Reln	A	C	5: 21,920,487	C2733G	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sag	G	C	1: 87,845,015	D402H	probably benign	Het
Sbk3	T	A	7: 4,969,980	T64S	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Sh3gl1	C	T	17: 56,019,173	G111D	probably damaging	Het
Spata20	G	A	11: 94,483,088	R379W	probably damaging	Het
St3gal2	T	C	8: 110,962,359	M177T	probably benign	Het
Stk39	C	T	2: 68,390,940	G213D	probably damaging	Het
Szt2	A	G	4: 118,365,406		probably benign	Het
Taf1d	T	C	9: 15,308,643	S63P	probably damaging	Het
Tnfrsf13b	C	G	11: 61,140,817		probably null	Het
Ttn	G	T	2: 76,724,050	A30807D	probably damaging	Het
Unc119	A	G	11: 78,348,122	N158S	probably damaging	Het
Vmn2r116	T	A	17: 23,401,827	I845N	possibly damaging	Het
Vmn2r12	C	A	5: 109,091,964	M244I	probably benign	Het
Zdhhc4	A	G	5: 143,324,242	V87A	probably damaging	Het
Zwilch	A	G	9: 64,155,162		probably null	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
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
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'- TTTGCATGCAGTCAGGGAAAG -3'
(R):5'- CCTAGGAAGAGGTGTAGAGTTCTG -3'

Sequencing Primer
(F):5'- CATGCAGTCAGGGAAAGGTTAG -3'
(R):5'- CTGATGTATTATTAGTTTGAGCTGCC -3'

Posted On

2015-06-20