Mutagenetix > Incidental Mutation

Incidental Mutation 'R7440:Ccser2'

576917

Institutional Source

Beutler Lab

Gene Symbol

Ccser2

Ensembl Gene

ENSMUSG00000058690

Gene Name

coiled-coil serine rich 2

Synonyms

1700012P13Rik, 2900054P12Rik, Gcap14

MMRRC Submission

045516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R7440 (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 36898217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 727 (K727E)

Ref Sequence

ENSEMBL: ENSMUSP00000087478 (fasta)

Gene Model

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

AlphaFold

Q3UHI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000067700
AA Change: K727E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: K727E

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: ENSMUST00000090024
AA Change: K727E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: K727E

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

possibly damaging
Transcript: ENSMUST00000182042
AA Change: K155E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690
AA Change: K155E

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

possibly damaging
Transcript: ENSMUST00000182797
AA Change: K155E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690
AA Change: K155E

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: K64E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000183038
AA Change: K174E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
AA Change: K174E

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: K95E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138100
Gene: ENSMUSG00000058690
AA Change: K95E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	A	G	9: 50,764,913	V35A	probably benign	Het
9230104L09Rik	A	C	2: 148,846,991	C109W	probably damaging	Het
Acadm	G	A	3: 153,922,989	T403I	probably damaging	Het
Adat1	A	T	8: 111,989,898	M64K	probably damaging	Het
Adcy2	C	T	13: 68,796,667	V199M	probably damaging	Het
Ankrd13a	T	C	5: 114,803,575	S508P	possibly damaging	Het
Ap1g1	T	A	8: 109,802,724		probably null	Het
Bicral	C	T	17: 46,825,784	G167R	probably damaging	Het
Cep350	T	G	1: 155,940,772	K332N	probably damaging	Het
Chd5	A	G	4: 152,384,651	N1811S	probably benign	Het
Chpf	A	T	1: 75,475,601	V565D	probably damaging	Het
Clcn6	A	T	4: 148,014,195	L489H	probably damaging	Het
Cntln	C	A	4: 85,063,216	T877K	possibly damaging	Het
Cog4	T	C	8: 110,879,706	V630A	probably benign	Het
Col6a5	G	T	9: 105,881,431	S2192*	probably null	Het
Cry2	G	A	2: 92,413,638	R397W	probably damaging	Het
Cyp1b1	T	C	17: 79,713,557	N252S	probably damaging	Het
Dhx9	T	C	1: 153,481,231	I91V	probably benign	Het
Dnajb6	G	A	5: 29,757,859	A256T	possibly damaging	Het
Epm2a	T	G	10: 11,390,875	Y121*	probably null	Het
Erlec1	T	C	11: 30,950,818	I117V	possibly damaging	Het
Exoc8	T	C	8: 124,895,781	M616V	probably benign	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Fuz	T	C	7: 44,896,572	L46P	probably damaging	Het
Gm15319	C	T	8: 20,356,948	S254N	unknown	Het
Insc	T	C	7: 114,845,043	S422P	possibly damaging	Het
Intu	A	G	3: 40,697,551	I813V	probably benign	Het
Jak3	T	A	8: 71,680,718	S352T	probably benign	Het
Klf11	T	C	12: 24,655,491	S315P	probably benign	Het
Lrrc63	T	C	14: 75,121,013	N400D	possibly damaging	Het
Lrrk1	T	C	7: 66,290,854	D760G	probably damaging	Het
Macf1	A	T	4: 123,455,446	L3976*	probably null	Het
Map7	C	T	10: 20,261,859	A259V	probably damaging	Het
Meioc	T	A	11: 102,674,237	D170E	possibly damaging	Het
Mgat5b	T	A	11: 116,968,445	Y34*	probably null	Het
Mgst1	A	G	6: 138,150,844	K68R	probably benign	Het
Miga1	T	A	3: 152,338,046		probably null	Het
Mrps33	G	A	6: 39,802,479	P94L	probably damaging	Het
Ncapg2	G	T	12: 116,450,413	G1068C	possibly damaging	Het
Ndufaf7	C	T	17: 78,942,117	H148Y	probably damaging	Het
Nkx6-3	A	T	8: 23,153,754	D57V	probably damaging	Het
Nlrp1a	T	C	11: 71,092,324	D1272G	probably damaging	Het
Oit3	T	C	10: 59,429,570	N291S	probably damaging	Het
Olfr362	A	T	2: 37,105,169	H160Q	possibly damaging	Het
Pld1	T	G	3: 28,041,270	S251A	probably benign	Het
Ppfibp1	T	C	6: 147,019,503	S580P	probably benign	Het
Prdx6b	A	T	2: 80,293,216	D123V	probably damaging	Het
Ptprs	A	G	17: 56,424,256	L1050P	possibly damaging	Het
Rcc1	A	C	4: 132,337,799	S138A	probably damaging	Het
Rimbp3	G	T	16: 17,213,201	R1496S	possibly damaging	Het
Sacs	T	C	14: 61,191,605	V371A	probably benign	Het
Sfxn4	A	G	19: 60,842,204	L260P	possibly damaging	Het
Slc17a1	G	A	13: 23,878,483	S211N	possibly damaging	Het
Slc39a11	C	T	11: 113,562,092	V8M	probably damaging	Het
Smpd2	A	G	10: 41,489,016	I78T	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Syt17	A	T	7: 118,381,884	V462E	probably damaging	Het
Tlr11	T	A	14: 50,361,344	D262E	probably benign	Het
Tnfrsf9	T	C	4: 150,929,874	V10A	probably benign	Het
Trpv3	C	A	11: 73,277,974	Q87K	probably benign	Het
Ugt1a5	T	C	1: 88,166,559	Y170H	probably benign	Het
Urb1	A	G	16: 90,787,408	L562P	probably damaging	Het
Usp3	G	T	9: 66,530,255	N299K	probably benign	Het
Vmn1r83	T	C	7: 12,321,629	Y167C	probably damaging	Het
Vmn2r117	T	A	17: 23,475,565	Y436F	probably benign	Het
Vps13d	A	G	4: 145,128,411	I2220T		Het
Zfp936	T	A	7: 43,187,261	V32D	probably damaging	Het
Znrd1	T	A	17: 36,957,844	L75F	probably benign	Het
Zswim2	A	G	2: 83,920,719	C259R	probably damaging	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
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
R8805:Ccser2	UTSW	14	36879755	missense	probably damaging	1.00
R8890:Ccser2	UTSW	14	36879395	missense	probably damaging	0.98
R8994:Ccser2	UTSW	14	36940119	missense	probably benign	0.06
R9274:Ccser2	UTSW	14	36938780	missense	possibly damaging	0.54
R9425:Ccser2	UTSW	14	36879206	missense	probably benign	0.01
R9502:Ccser2	UTSW	14	36909133	missense	probably benign	0.01
R9644:Ccser2	UTSW	14	36879193	missense	possibly damaging	0.90
X0066:Ccser2	UTSW	14	36940999	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAACACAATGCTACATGAACCTTC -3'
(R):5'- TCATAAGTGCTGACCCAGGG -3'

Sequencing Primer
(F):5'- TGCTACATGAACCTTCAAAAGTC -3'
(R):5'- GCAGTTGCCATTAGACCATG -3'

Posted On

2019-10-07