Mutagenetix > Incidental Mutations

Incidental Mutation 'R0543:Ccser2'

50070

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

MMRRC Submission

038735-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R0543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36874936-36968777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36940192 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 345 (M345K)

Ref Sequence

ENSEMBL: ENSMUSP00000087478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067700] [ENSMUST00000090024] [ENSMUST00000183038]

Predicted Effect

probably benign
Transcript: ENSMUST00000067700
AA Change: M345K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: M345K

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: M345K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: M345K

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

noncoding transcript
Transcript: ENSMUST00000182635

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	C	A	1: 43,742,289	N110K	possibly damaging	Het
4930444G20Rik	T	C	10: 22,066,924	S386G	possibly damaging	Het
4932438A13Rik	G	A	3: 36,996,458	S2981N	probably benign	Het
Alox5	T	A	6: 116,454,317		probably null	Het
Apol9b	A	G	15: 77,735,640	N212S	probably damaging	Het
Ash1l	T	A	3: 89,063,778		probably null	Het
Ccdc180	A	T	4: 45,900,041	K200*	probably null	Het
Cdcp2	A	T	4: 107,097,676		probably null	Het
Clca3a1	T	C	3: 144,748,394		probably benign	Het
Cntn3	G	A	6: 102,269,090		probably benign	Het
Col28a1	T	A	6: 8,075,326		probably benign	Het
Dock2	A	G	11: 34,294,325	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,340,863	S998C	probably damaging	Het
Enox1	T	C	14: 77,506,959		probably benign	Het
Fgfr3	A	G	5: 33,729,710	M1V	probably null	Het
Fuca2	T	A	10: 13,503,126	Y5N	probably damaging	Het
Git2	G	T	5: 114,745,531	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,756,394		noncoding transcript	Het
Hars2	G	A	18: 36,789,424	E337K	probably damaging	Het
Hells	A	G	19: 38,967,750	R797G	probably benign	Het
Hnf1a	G	A	5: 114,950,744	S571L	probably benign	Het
Hoxa5	T	C	6: 52,204,340	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,369,492		probably benign	Het
Ints6	T	C	14: 62,696,611	I816V	probably damaging	Het
Itpr1	T	C	6: 108,515,748		probably benign	Het
Kcnt2	C	A	1: 140,609,614	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,911,107	M47L	possibly damaging	Het
Macf1	G	T	4: 123,376,378	A4648D	probably damaging	Het
Mcf2l	T	C	8: 12,996,728		probably null	Het
Mcm9	C	T	10: 53,541,598	R3H	probably damaging	Het
Met	T	A	6: 17,491,970	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,374,762	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,981,310	Y181C	probably benign	Het
Mtch2	T	C	2: 90,849,682	V86A	possibly damaging	Het
Mttp	A	T	3: 138,111,696	I446N	possibly damaging	Het
Muc4	T	A	16: 32,756,746	S2207T	unknown	Het
Muc5b	A	G	7: 141,851,785	T944A	unknown	Het
Myo15	A	T	11: 60,479,051	H879L	probably benign	Het
Nkiras2	G	A	11: 100,624,192		probably benign	Het
Nostrin	T	G	2: 69,189,131	*507E	probably null	Het
Nup205	T	C	6: 35,198,969	V589A	probably benign	Het
Olfr1141	C	A	2: 87,753,650	L114F	probably damaging	Het
Olfr1444	G	T	19: 12,861,888	V38F	probably benign	Het
Olfr530	A	G	7: 140,373,394	I72T	probably benign	Het
Oxct2b	T	A	4: 123,116,989	M234K	possibly damaging	Het
Park2	G	A	17: 11,067,179	D20N	probably damaging	Het
Pcdha1	A	T	18: 37,185,068	I945F	probably damaging	Het
Pdzd3	A	C	9: 44,248,934	H324Q	probably damaging	Het
Pik3ca	G	A	3: 32,450,261		probably null	Het
Pkhd1l1	A	G	15: 44,523,491		probably null	Het
Plscr1	A	T	9: 92,258,046		probably null	Het
Psd	T	C	19: 46,319,517	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 25,994,225	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,807,274	Y103*	probably null	Het
Slc38a4	A	T	15: 97,016,839	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,127,898	I93F	probably damaging	Het
Ssfa2	T	A	2: 79,644,506	S270T	possibly damaging	Het
Strip1	G	A	3: 107,626,775	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,208,096	A535V	probably damaging	Het
Tg	A	T	15: 66,729,597	Q152L	probably benign	Het
Thada	T	C	17: 84,423,163	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tns1	T	A	1: 73,952,697	T941S	probably benign	Het
Tppp3	T	C	8: 105,468,208	D97G	probably benign	Het
Trp53bp1	C	A	2: 121,251,868	A317S	probably null	Het
Trpm7	T	C	2: 126,848,529	I210V	probably damaging	Het
Ubr1	A	G	2: 120,881,093	L1440P	probably damaging	Het
Utp18	A	T	11: 93,875,835	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,692,480		probably benign	Het
Zfp719	A	G	7: 43,589,253		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
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
X0066:Ccser2	UTSW	14	36940999	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGCCTCAGTCAAACAGCGTCTTAC -3'
(R):5'- TGCTGGAAAGAAACTGGCCTTATCC -3'

Sequencing Primer
(F):5'- CAGCGTCTTACAGTCTATCAAGG -3'
(R):5'- GAAACTGGCCTTATCCAATGG -3'

Posted On

2013-06-12