Mutagenetix > Incidental Mutation

Incidental Mutation 'R0543:Ccser2'

50070

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

2900054P12Rik, 1700012P13Rik, Gcap14

MMRRC Submission

038735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R0543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36596893-36690734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36662149 bp (GRCm39)

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]

AlphaFold

Q3UHI0

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
Alox5	T	A	6: 116,431,278 (GRCm39)		probably null	Het
Apol9b	A	G	15: 77,619,840 (GRCm39)	N212S	probably damaging	Het
Ash1l	T	A	3: 88,971,085 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,050,607 (GRCm39)	S2981N	probably benign	Het
Ccdc180	A	T	4: 45,900,041 (GRCm39)	K200*	probably null	Het
Cdcp2	A	T	4: 106,954,873 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,454,155 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,246,051 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,075,326 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,244,325 (GRCm39)	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,473,920 (GRCm39)	S998C	probably damaging	Het
Ecrg4	C	A	1: 43,781,449 (GRCm39)	N110K	possibly damaging	Het
Enox1	T	C	14: 77,744,399 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,887,054 (GRCm39)	M1V	probably null	Het
Fuca2	T	A	10: 13,378,870 (GRCm39)	Y5N	probably damaging	Het
Git2	G	T	5: 114,883,592 (GRCm39)	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,405,602 (GRCm39)		noncoding transcript	Het
Hars2	G	A	18: 36,922,477 (GRCm39)	E337K	probably damaging	Het
Hells	A	G	19: 38,956,194 (GRCm39)	R797G	probably benign	Het
Hnf1a	G	A	5: 115,088,803 (GRCm39)	S571L	probably benign	Het
Hoxa5	T	C	6: 52,181,320 (GRCm39)	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,408,573 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Itpr1	T	C	6: 108,492,709 (GRCm39)		probably benign	Het
Itprid2	T	A	2: 79,474,850 (GRCm39)	S270T	possibly damaging	Het
Kcnt2	C	A	1: 140,537,352 (GRCm39)	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,950,188 (GRCm39)	M47L	possibly damaging	Het
Macf1	G	T	4: 123,270,171 (GRCm39)	A4648D	probably damaging	Het
Mcf2l	T	C	8: 13,046,728 (GRCm39)		probably null	Het
Mcm9	C	T	10: 53,417,694 (GRCm39)	R3H	probably damaging	Het
Met	T	A	6: 17,491,969 (GRCm39)	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,168,411 (GRCm39)	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,631,058 (GRCm39)	Y181C	probably benign	Het
Mtch2	T	C	2: 90,680,026 (GRCm39)	V86A	possibly damaging	Het
Mttp	A	T	3: 137,817,457 (GRCm39)	I446N	possibly damaging	Het
Muc4	T	A	16: 32,577,120 (GRCm39)	S2207T	unknown	Het
Muc5b	A	G	7: 141,405,522 (GRCm39)	T944A	unknown	Het
Myo15a	A	T	11: 60,369,877 (GRCm39)	H879L	probably benign	Het
Nherf4	A	C	9: 44,160,231 (GRCm39)	H324Q	probably damaging	Het
Nkiras2	G	A	11: 100,515,018 (GRCm39)		probably benign	Het
Nostrin	T	G	2: 69,019,475 (GRCm39)	*507E	probably null	Het
Nup205	T	C	6: 35,175,904 (GRCm39)	V589A	probably benign	Het
Or12j3	A	G	7: 139,953,307 (GRCm39)	I72T	probably benign	Het
Or5b21	G	T	19: 12,839,252 (GRCm39)	V38F	probably benign	Het
Or5w17	C	A	2: 87,583,994 (GRCm39)	L114F	probably damaging	Het
Oxct2b	T	A	4: 123,010,782 (GRCm39)	M234K	possibly damaging	Het
Pcdha1	A	T	18: 37,318,121 (GRCm39)	I945F	probably damaging	Het
Pik3ca	G	A	3: 32,504,410 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,887 (GRCm39)		probably null	Het
Plscr1	A	T	9: 92,140,099 (GRCm39)		probably null	Het
Prkn	G	A	17: 11,286,066 (GRCm39)	D20N	probably damaging	Het
Psd	T	C	19: 46,307,956 (GRCm39)	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 26,213,199 (GRCm39)	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,861,423 (GRCm39)	Y103*	probably null	Het
Semp2l2b	T	C	10: 21,942,823 (GRCm39)	S386G	possibly damaging	Het
Slc38a4	A	T	15: 96,914,720 (GRCm39)	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,055,623 (GRCm39)	I93F	probably damaging	Het
Strip1	G	A	3: 107,534,091 (GRCm39)	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,028,458 (GRCm39)	A535V	probably damaging	Het
Tg	A	T	15: 66,601,446 (GRCm39)	Q152L	probably benign	Het
Thada	T	C	17: 84,730,591 (GRCm39)	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tns1	T	A	1: 73,991,856 (GRCm39)	T941S	probably benign	Het
Tppp3	T	C	8: 106,194,840 (GRCm39)	D97G	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpm7	T	C	2: 126,690,449 (GRCm39)	I210V	probably damaging	Het
Ubr1	A	G	2: 120,711,574 (GRCm39)	L1440P	probably damaging	Het
Utp18	A	T	11: 93,766,661 (GRCm39)	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,522,824 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het

Other mutations in Ccser2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Ccser2	APN	14	36,662,021 (GRCm39)	missense	probably damaging	1.00
IGL01285:Ccser2	APN	14	36,660,626 (GRCm39)	missense	probably damaging	1.00
IGL01622:Ccser2	APN	14	36,662,920 (GRCm39)	missense	probably benign	0.03
IGL01623:Ccser2	APN	14	36,662,920 (GRCm39)	missense	probably benign	0.03
IGL02322:Ccser2	APN	14	36,631,086 (GRCm39)	missense	probably damaging	1.00
IGL02342:Ccser2	APN	14	36,640,562 (GRCm39)	splice site	probably benign
IGL02899:Ccser2	APN	14	36,662,716 (GRCm39)	missense	probably benign	0.39
R0433:Ccser2	UTSW	14	36,640,486 (GRCm39)	missense	probably damaging	1.00
R0674:Ccser2	UTSW	14	36,640,548 (GRCm39)	missense	possibly damaging	0.94
R0853:Ccser2	UTSW	14	36,662,367 (GRCm39)	missense	probably benign	0.18
R0964:Ccser2	UTSW	14	36,630,965 (GRCm39)	splice site	probably benign
R1748:Ccser2	UTSW	14	36,618,271 (GRCm39)	nonsense	probably null
R1748:Ccser2	UTSW	14	36,618,270 (GRCm39)	missense	probably damaging	1.00
R1854:Ccser2	UTSW	14	36,640,548 (GRCm39)	missense	possibly damaging	0.94
R2405:Ccser2	UTSW	14	36,660,626 (GRCm39)	missense	probably damaging	1.00
R2926:Ccser2	UTSW	14	36,601,518 (GRCm39)	missense	possibly damaging	0.91
R3846:Ccser2	UTSW	14	36,662,245 (GRCm39)	missense	probably benign
R4298:Ccser2	UTSW	14	36,612,337 (GRCm39)	missense	possibly damaging	0.63
R4701:Ccser2	UTSW	14	36,660,654 (GRCm39)	missense	probably damaging	1.00
R4746:Ccser2	UTSW	14	36,631,082 (GRCm39)	missense	probably damaging	1.00
R4888:Ccser2	UTSW	14	36,662,343 (GRCm39)	missense	probably damaging	0.98
R4959:Ccser2	UTSW	14	36,662,753 (GRCm39)	missense	probably benign	0.00
R5020:Ccser2	UTSW	14	36,662,134 (GRCm39)	missense	probably benign	0.00
R5179:Ccser2	UTSW	14	36,601,308 (GRCm39)	missense	possibly damaging	0.79
R5378:Ccser2	UTSW	14	36,601,391 (GRCm39)	missense	possibly damaging	0.65
R6011:Ccser2	UTSW	14	36,601,532 (GRCm39)	missense	probably benign	0.17
R6057:Ccser2	UTSW	14	36,663,122 (GRCm39)	missense	probably damaging	0.98
R6180:Ccser2	UTSW	14	36,662,276 (GRCm39)	missense	probably benign
R6216:Ccser2	UTSW	14	36,662,465 (GRCm39)	missense	probably damaging	1.00
R6244:Ccser2	UTSW	14	36,662,675 (GRCm39)	missense	probably benign	0.00
R6266:Ccser2	UTSW	14	36,601,632 (GRCm39)	missense	probably damaging	1.00
R6730:Ccser2	UTSW	14	36,601,043 (GRCm39)	missense	probably damaging	1.00
R6862:Ccser2	UTSW	14	36,662,038 (GRCm39)	missense	probably benign
R7025:Ccser2	UTSW	14	36,661,964 (GRCm39)	missense	probably damaging	1.00
R7076:Ccser2	UTSW	14	36,661,786 (GRCm39)	missense	probably benign	0.14
R7092:Ccser2	UTSW	14	36,662,612 (GRCm39)	missense	probably benign	0.03
R7353:Ccser2	UTSW	14	36,663,100 (GRCm39)	missense	possibly damaging	0.91
R7440:Ccser2	UTSW	14	36,620,174 (GRCm39)	missense	possibly damaging	0.92
R7509:Ccser2	UTSW	14	36,660,602 (GRCm39)	missense	probably damaging	1.00
R7555:Ccser2	UTSW	14	36,601,457 (GRCm39)	missense	possibly damaging	0.65
R7770:Ccser2	UTSW	14	36,648,831 (GRCm39)	missense	probably damaging	1.00
R8103:Ccser2	UTSW	14	36,618,240 (GRCm39)	missense	probably damaging	1.00
R8194:Ccser2	UTSW	14	36,618,220 (GRCm39)	missense	probably damaging	1.00
R8356:Ccser2	UTSW	14	36,612,331 (GRCm39)	missense	probably benign	0.00
R8456:Ccser2	UTSW	14	36,612,331 (GRCm39)	missense	probably benign	0.00
R8805:Ccser2	UTSW	14	36,601,712 (GRCm39)	missense	probably damaging	1.00
R8890:Ccser2	UTSW	14	36,601,352 (GRCm39)	missense	probably damaging	0.98
R8994:Ccser2	UTSW	14	36,662,076 (GRCm39)	missense	probably benign	0.06
R9274:Ccser2	UTSW	14	36,660,737 (GRCm39)	missense	possibly damaging	0.54
R9425:Ccser2	UTSW	14	36,601,163 (GRCm39)	missense	probably benign	0.01
R9502:Ccser2	UTSW	14	36,631,090 (GRCm39)	missense	probably benign	0.01
R9644:Ccser2	UTSW	14	36,601,150 (GRCm39)	missense	possibly damaging	0.90
X0066:Ccser2	UTSW	14	36,662,956 (GRCm39)	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