Mutagenetix > Incidental Mutations

Incidental Mutation 'R8103:Ccser2'

630606

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: 0.246) question?

Stock #

R8103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36896283 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 765 (Y765C)

Ref Sequence

ENSEMBL: ENSMUSP00000087478 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067700
AA Change: Y765C

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

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: Y765C

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 damaging
Transcript: ENSMUST00000090024
AA Change: Y765C

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

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: Y765C

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 damaging
Transcript: ENSMUST00000182042
AA Change: Y193C

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

SMART Domains

Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690
AA Change: Y193C

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 damaging
Transcript: ENSMUST00000182797
AA Change: Y193C

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

SMART Domains

Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690
AA Change: Y193C

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 damaging
Transcript: ENSMUST00000183007
AA Change: Y102C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183038
AA Change: Y212C

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

SMART Domains

Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
AA Change: Y212C

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 damaging
Transcript: ENSMUST00000183316
AA Change: Y133C

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

SMART Domains

Protein: ENSMUSP00000138100
Gene: ENSMUSG00000058690
AA Change: Y133C

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: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.4%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,834	D216G	probably benign	Het
4930430F08Rik	C	A	10: 100,577,248	V178F	probably benign	Het
9030624J02Rik	T	C	7: 118,743,632	S47P	probably benign	Het
Abcg5	A	T	17: 84,658,528	I640K	possibly damaging	Het
Acadvl	T	C	11: 70,014,342	K128R	probably benign	Het
Angptl7	T	A	4: 148,496,561	N259I	probably damaging	Het
Ankrd35	A	G	3: 96,679,681	K104R	possibly damaging	Het
Antxr1	T	C	6: 87,188,216	N413S	probably damaging	Het
Arhgap26	A	G	18: 39,371,124	T376A		Het
Atf6b	T	G	17: 34,653,975	S622A	probably damaging	Het
Atp5h	T	A	11: 115,416,025	Y115F	possibly damaging	Het
Axin2	T	C	11: 108,931,543	L307P	probably damaging	Het
B4galnt4	C	T	7: 141,064,651	T153M	possibly damaging	Het
Brd8	A	G	18: 34,607,178	V604A	probably benign	Het
Cdh26	A	G	2: 178,468,213	D433G	probably damaging	Het
Cep85l	T	G	10: 53,299,324		probably null	Het
Col23a1	T	A	11: 51,570,187		probably null	Het
Col7a1	A	G	9: 108,975,384	D2261G	unknown	Het
Comp	C	A	8: 70,381,286	N650K	probably damaging	Het
Copb1	A	G	7: 114,234,967	M476T	possibly damaging	Het
Dapk1	T	A	13: 60,749,195	S743T	probably damaging	Het
Ddx39	A	G	8: 83,724,476		probably null	Het
Dgkb	A	G	12: 38,136,581	H243R	probably damaging	Het
Dsg1c	T	G	18: 20,283,114	Y691D	probably damaging	Het
Duox2	C	T	2: 122,287,054	S933N	probably benign	Het
Ece1	T	C	4: 137,913,822	S19P	probably benign	Het
Edem1	G	A	6: 108,852,563	E548K	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,577	V174A	possibly damaging	Het
Fyco1	A	T	9: 123,829,388	N574K	probably benign	Het
Glb1l2	T	A	9: 26,765,684	M551L	probably benign	Het
Gm3376	C	T	Y: 3,776,675	T104I	possibly damaging	Het
Gm5580	C	T	6: 116,551,507	T115I	probably damaging	Het
Gm7694	G	T	1: 170,302,715	P38Q	probably damaging	Het
Grip1	A	G	10: 119,978,535	T324A	probably benign	Het
Htr3b	A	G	9: 48,946,549	V131A	possibly damaging	Het
Igfbp1	T	C	11: 7,198,106	C50R	probably damaging	Het
Il5ra	A	G	6: 106,715,650	I378T	possibly damaging	Het
Ints11	T	C	4: 155,888,230	L504P	possibly damaging	Het
Iqca	A	T	1: 90,059,608	I74N		Het
Kbtbd12	C	T	6: 88,618,681	A56T	probably damaging	Het
Kcnq5	T	C	1: 21,479,396	N369S	possibly damaging	Het
Kmt5b	A	G	19: 3,815,381	D815G	probably benign	Het
Lnpk	T	C	2: 74,522,255	Q361R	probably benign	Het
Mep1b	T	C	18: 21,089,385	I277T	possibly damaging	Het
Naip6	G	A	13: 100,301,343	T385I	probably benign	Het
Narfl	A	G	17: 25,777,421	T135A	probably benign	Het
Npepl1	A	T	2: 174,111,209	I95F	probably benign	Het
Nxpe4	T	C	9: 48,392,720	F36L	probably benign	Het
Olfr129	A	T	17: 38,055,012	C185S	probably damaging	Het
Olfr393	C	T	11: 73,847,909	C72Y	probably damaging	Het
Optn	C	A	2: 5,040,202	C243F	probably damaging	Het
Paqr7	T	C	4: 134,507,510	V226A	probably benign	Het
Pcdh12	T	A	18: 38,282,159	I638F	probably damaging	Het
Pfas	T	C	11: 68,992,293	T722A	probably damaging	Het
Pkhd1	T	A	1: 20,200,757	I3191F	probably damaging	Het
Plxnc1	T	A	10: 94,871,082	H531L	probably benign	Het
Pom121l2	A	G	13: 21,982,374	T272A	probably benign	Het
Pparg	T	C	6: 115,473,141	V367A	possibly damaging	Het
Psen2	A	T	1: 180,240,791	M99K	probably damaging	Het
Ranbp10	T	C	8: 105,772,547	T536A	probably benign	Het
Rbfox2	G	T	15: 77,099,454	P284T	probably damaging	Het
Rere	G	A	4: 150,617,339	R25H	probably damaging	Het
Rhpn1	T	A	15: 75,709,266	L119Q	probably null	Het
Rreb1	A	G	13: 37,941,701	T1328A	probably benign	Het
Sept11	A	T	5: 93,161,148		probably null	Het
Skida1	T	A	2: 18,047,738	Q201L	probably benign	Het
Sptan1	T	A	2: 30,020,043	I1805N	probably damaging	Het
Stard13	T	A	5: 151,046,970	Q853L	possibly damaging	Het
Susd1	T	A	4: 59,365,916		probably null	Het
Szt2	T	A	4: 118,387,864	Q1158H	possibly damaging	Het
Tbcc	A	C	17: 46,891,120	D144A	probably benign	Het
Tsn	A	G	1: 118,304,707	I146T	probably benign	Het
Umad1	A	T	6: 8,427,121	T99S	probably damaging	Het
Vcan	C	A	13: 89,703,320	E1174*	probably null	Het
Vcan	T	A	13: 89,657,658	E3261V	probably damaging	Het
Vmn2r100	C	A	17: 19,531,153		probably null	Het
Vmn2r65	A	G	7: 84,946,711	I255T	probably damaging	Het
Wdr70	A	G	15: 7,977,131	L313P	possibly damaging	Het
Ythdf2	C	A	4: 132,204,778	R357L	probably damaging	Het
Zfp523	T	C	17: 28,201,293	C262R	probably damaging	Het
Zfp553	T	C	7: 127,236,764	V497A	probably benign	Het
Zhx1	A	G	15: 58,053,266	L528S	probably benign	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
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'- ACACACAAGAGAAGCTCTGG -3'
(R):5'- AGACCTTGTTTGATGGAGGC -3'

Sequencing Primer
(F):5'- GCTCTGGAAAGCACATAACAACTAGG -3'
(R):5'- ACCTTGTTTGATGGAGGCACATC -3'

Posted On

2020-06-30