Mutagenetix > Incidental Mutations

Incidental Mutation 'R6266:Ccser2'

507030

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

MMRRC Submission

044378-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36879675 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 276 (P276L)

Ref Sequence

ENSEMBL: ENSMUSP00000138787 (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: H804Y

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: H804Y

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: P832L

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

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: P832L

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: P260L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690
AA Change: P260L

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 damaging
Transcript: ENSMUST00000182797
AA Change: P276L

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

SMART Domains

Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690
AA Change: P276L

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

possibly damaging
Transcript: ENSMUST00000183007
AA Change: H141Y

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183038
AA Change: H251Y

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
AA Change: H251Y

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: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,742,312	V147I	probably benign	Het
2310035C23Rik	T	G	1: 105,731,282		probably null	Het
Akr1c12	T	C	13: 4,270,207	T295A	probably benign	Het
Aldh2	C	A	5: 121,568,934	V217L	probably damaging	Het
Arap3	G	A	18: 37,990,791	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,832,520	L75R	probably damaging	Het
Blm	C	A	7: 80,499,940	K640N	probably benign	Het
Brap	A	T	5: 121,685,265	T487S	probably benign	Het
Cdc42bpg	A	G	19: 6,311,473	E343G	probably damaging	Het
Cecr2	A	G	6: 120,761,686	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 134,349,785	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,627	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,964,753	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,439,146	S406P	probably damaging	Het
Efcab8	T	C	2: 153,783,768	L116P	probably damaging	Het
Efnb2	T	C	8: 8,660,524	I31V	probably benign	Het
Fbxl12	A	T	9: 20,638,615	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,596,338	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,565,907	S1219P	probably benign	Het
Gm7298	A	T	6: 121,782,704	R1187S	probably damaging	Het
H6pd	T	C	4: 149,995,957	I136V	probably benign	Het
Hyal2	A	G	9: 107,570,715	N189S	probably benign	Het
Jmjd1c	C	T	10: 67,249,660	P2410S	probably damaging	Het
Larp1	A	G	11: 58,042,263	D231G	probably damaging	Het
Lilra5	T	A	7: 4,241,928	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,503,277	F508S	probably damaging	Het
Marc2	T	C	1: 184,833,943	R85G	probably damaging	Het
March4	T	C	1: 72,452,488	Y208C	probably damaging	Het
Nr1h2	A	T	7: 44,552,052	C45*	probably null	Het
Olfr1123	T	A	2: 87,419,006	S319R	probably benign	Het
Olfr138	A	G	17: 38,275,148	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,685,703		probably null	Het
Prpf40a	A	T	2: 53,156,627	S324T	probably benign	Het
Psmb7	T	C	2: 38,640,187	D94G	probably damaging	Het
Psmd11	A	G	11: 80,445,941	T140A	probably benign	Het
Pygm	T	C	19: 6,398,139	I737T	probably damaging	Het
Rbp3	G	A	14: 33,954,461	R122H	probably benign	Het
Rrp8	T	C	7: 105,736,389	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,542,420	S37P	probably damaging	Het
Slc12a3	A	G	8: 94,358,471	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,209,894	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,554,729	Q281R	possibly damaging	Het
Tefm	A	G	11: 80,137,988	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,011,915	V145E	probably damaging	Het
Tmem231	T	A	8: 111,915,265	E219V	probably null	Het
Tmx3	T	A	18: 90,537,210		probably null	Het
Tns3	G	A	11: 8,492,987	P459S	probably damaging	Het
Trav13d-1	T	A	14: 52,851,763	S76R	probably benign	Het
Trp63	A	G	16: 25,862,460	N254S	probably damaging	Het
Tsen34	A	G	7: 3,693,985		probably benign	Het
Unc13d	A	G	11: 116,068,238	V701A	probably damaging	Het
Usp36	A	G	11: 118,268,585	S513P	probably damaging	Het
Uspl1	T	A	5: 149,204,366	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,678,745	C450S	probably benign	Het
Zfp128	T	C	7: 12,890,970	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,895,234	Q423*	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
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
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'- GCTCAGGTCCGTTTCAGAAG -3'
(R):5'- TGATCCCGTGGAGATAAGGC -3'

Sequencing Primer
(F):5'- CGTTTCAGAAGGTATGTACTTCACC -3'
(R):5'- TCCCGTGGAGATAAGGCTGAAG -3'

Posted On

2018-03-15