Mutagenetix > Incidental Mutation

Incidental Mutation 'R5762:Ccdc187'

446032

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26276092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 775 (P775L)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057224] [ENSMUST00000217256] [ENSMUST00000227200]

AlphaFold

Q8C5V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057224
AA Change: P775L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: P775L

Domain	Start	End	E-Value	Type
low complexity region	116	132	N/A	INTRINSIC
low complexity region	536	557	N/A	INTRINSIC
coiled coil region	605	632	N/A	INTRINSIC
coiled coil region	717	745	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000217256
AA Change: P775L

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: P814L

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,896,598	D148E	probably benign	Het
Abca13	A	G	11: 9,581,665	I4631V	probably damaging	Het
Adamts16	A	T	13: 70,738,498	W1058R	probably damaging	Het
Adgrf5	A	G	17: 43,430,695	I163V	probably null	Het
Ano1	T	A	7: 144,648,037	Y338F	probably damaging	Het
Atp4a	A	G	7: 30,719,096	D603G	probably damaging	Het
B020031M17Rik	T	A	13: 119,949,965	Q35L	probably benign	Het
Bmp2k	GGCCCGC	GGC	5: 97,087,191		probably null	Het
Brinp2	T	C	1: 158,246,586	D655G	probably benign	Het
C3ar1	A	G	6: 122,850,362	S299P	probably benign	Het
Calhm1	T	A	19: 47,143,619		probably null	Het
Cd27	A	G	6: 125,236,598	F48S	probably damaging	Het
Cfap52	A	G	11: 67,954,121	Y41H	possibly damaging	Het
Cntn5	A	G	9: 9,748,389	S701P	possibly damaging	Het
Ctbp2	G	T	7: 132,995,359	A665D	probably damaging	Het
Ctsd	C	A	7: 142,383,529	G81C	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dpysl4	C	T	7: 139,091,937	A67V	probably benign	Het
Dst	C	T	1: 34,179,357	T1626I	probably damaging	Het
Etfdh	A	C	3: 79,615,954	D217E	probably null	Het
Far1	T	A	7: 113,568,189	Y494N	probably damaging	Het
Fndc1	G	A	17: 7,771,534	T1110M	unknown	Het
Frmd4a	G	T	2: 4,484,065	D78Y	probably damaging	Het
Fsip2	G	A	2: 82,977,916	M1526I	probably benign	Het
Ggn	C	T	7: 29,172,352	P399S	probably damaging	Het
Hap1	A	G	11: 100,355,774	W102R	probably damaging	Het
Herc2	T	A	7: 56,197,190	S3629R	possibly damaging	Het
Hist1h2ac	C	T	13: 23,683,905	G5S	probably damaging	Het
Hyal4	A	C	6: 24,765,862	Y405S	possibly damaging	Het
Ifi204	G	A	1: 173,752,759	T395I	probably damaging	Het
Igsf9	A	G	1: 172,498,438	E1147G	probably damaging	Het
Inpp5a	T	A	7: 139,538,181	I225N	possibly damaging	Het
Kcnv1	T	C	15: 45,109,122	K455R	probably damaging	Het
Kmt2c	T	C	5: 25,310,457	D2796G	probably benign	Het
Ngp	A	T	9: 110,422,333	D143V	probably benign	Het
Nlrp5	T	C	7: 23,418,839	C663R	possibly damaging	Het
Nup205	G	T	6: 35,227,680	R1469L	probably damaging	Het
Nup205	T	A	6: 35,230,548	F1512I	probably damaging	Het
Nwd1	T	C	8: 72,670,914	S594P	probably damaging	Het
Nxpe2	A	C	9: 48,319,575	V498G	probably benign	Het
P3h4	G	A	11: 100,411,851	R320C	probably damaging	Het
Plec	A	G	15: 76,179,255	L2273P	probably damaging	Het
Ppp1r14b	C	T	19: 6,976,583	L100F	probably damaging	Het
Prlhr	C	T	19: 60,467,068	W353*	probably null	Het
Ralgps2	C	T	1: 156,832,664		probably null	Het
Rrp12	C	T	19: 41,880,152	G584D	possibly damaging	Het
Scamp3	T	C	3: 89,181,197	F237L	probably damaging	Het
Scn10a	A	G	9: 119,635,441		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Shroom1	A	T	11: 53,463,991	D246V	probably benign	Het
Snapc4	T	A	2: 26,378,606	E14D	probably damaging	Het
Spag5	A	T	11: 78,304,146	Q93L	probably benign	Het
Tle1	C	T	4: 72,120,135		probably null	Het
Ttll10	G	A	4: 156,034,981	P683S	possibly damaging	Het
Unc13c	A	C	9: 73,812,367	D1006E	probably benign	Het
Unc80	A	T	1: 66,693,796	K3101N	possibly damaging	Het
Vdac1	A	G	11: 52,387,453	Y247C	possibly damaging	Het
Vmn2r1	G	A	3: 64,090,053	V377I	probably benign	Het
Vmn2r23	A	G	6: 123,733,393	T552A	probably damaging	Het
Xrcc3	C	T	12: 111,804,610	R295Q	probably damaging	Het
Zfp780b	T	C	7: 27,964,818	N104S	probably benign	Het
Zkscan17	A	G	11: 59,487,571	V262A	possibly damaging	Het

Other mutations in Ccdc187

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Ccdc187	APN	2	26280948	missense	probably benign
IGL02989:Ccdc187	APN	2	26276431	missense	possibly damaging	0.92
IGL03017:Ccdc187	APN	2	26280966	missense	probably benign
IGL03059:Ccdc187	APN	2	26294241	missense	probably null	1.00
IGL03117:Ccdc187	APN	2	26287968	missense	possibly damaging	0.95
R0026:Ccdc187	UTSW	2	26281353	missense	probably benign	0.00
R0144:Ccdc187	UTSW	2	26276203	missense	probably damaging	0.98
R1078:Ccdc187	UTSW	2	26294377	missense	probably damaging	0.98
R1226:Ccdc187	UTSW	2	26276121	missense	probably damaging	0.99
R1624:Ccdc187	UTSW	2	26281075	missense	probably benign
R1733:Ccdc187	UTSW	2	26293658	missense	possibly damaging	0.93
R1851:Ccdc187	UTSW	2	26276068	missense	probably benign	0.17
R2304:Ccdc187	UTSW	2	26281017	missense	possibly damaging	0.94
R4278:Ccdc187	UTSW	2	26282227	intron	probably benign
R4344:Ccdc187	UTSW	2	26280669	missense	probably damaging	1.00
R5151:Ccdc187	UTSW	2	26293439	missense	probably damaging	1.00
R5416:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5537:Ccdc187	UTSW	2	26276225	missense	probably benign	0.32
R5761:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5865:Ccdc187	UTSW	2	26293368	missense	probably benign	0.00
R5925:Ccdc187	UTSW	2	26293581	missense	probably benign
R6261:Ccdc187	UTSW	2	26276203	missense	probably damaging	0.98
R6803:Ccdc187	UTSW	2	26289779	missense	probably benign	0.02
R6888:Ccdc187	UTSW	2	26289734	missense	probably damaging	0.98
R6958:Ccdc187	UTSW	2	26289719	missense	probably benign
R7006:Ccdc187	UTSW	2	26281090	missense	probably benign	0.05
R7358:Ccdc187	UTSW	2	26255995	missense	probably damaging	0.97
R7818:Ccdc187	UTSW	2	26276174	missense	possibly damaging	0.61
R8048:Ccdc187	UTSW	2	26293514	missense	possibly damaging	0.53
R8327:Ccdc187	UTSW	2	26280618	missense	probably benign	0.01
R8353:Ccdc187	UTSW	2	26276446	missense	probably damaging	0.99
R8425:Ccdc187	UTSW	2	26281536	missense	probably damaging	0.99
R8453:Ccdc187	UTSW	2	26276446	missense	probably damaging	0.99
R8461:Ccdc187	UTSW	2	26293802	missense	probably damaging	0.99
R8534:Ccdc187	UTSW	2	26275565	missense	possibly damaging	0.61
R8694:Ccdc187	UTSW	2	26275493	missense	probably benign	0.02
R8745:Ccdc187	UTSW	2	26280514	missense	probably damaging	0.99
R8958:Ccdc187	UTSW	2	26275565	missense	probably benign	0.02
R8972:Ccdc187	UTSW	2	26281067	missense	probably benign
R9214:Ccdc187	UTSW	2	26293397	missense	probably benign	0.19
R9454:Ccdc187	UTSW	2	26276102	missense	possibly damaging	0.94
R9542:Ccdc187	UTSW	2	26255918	missense	possibly damaging	0.66
R9562:Ccdc187	UTSW	2	26293686	missense	possibly damaging	0.90
R9565:Ccdc187	UTSW	2	26293686	missense	possibly damaging	0.90
R9601:Ccdc187	UTSW	2	26253433	missense	possibly damaging	0.90
R9702:Ccdc187	UTSW	2	26282210	missense	unknown
R9727:Ccdc187	UTSW	2	26281192	missense	probably damaging	0.99
R9790:Ccdc187	UTSW	2	26281215	missense	probably benign
R9791:Ccdc187	UTSW	2	26281215	missense	probably benign
Z1176:Ccdc187	UTSW	2	26281507	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AACAGGCATGACACCCATTG -3'
(R):5'- TGCACTTCCAGTACAAGCAAG -3'

Sequencing Primer
(F):5'- ATTGTCCAGCCCTACCTTGG -3'
(R):5'- TACAAGCAAGCCCGGCTG -3'

Posted On

2016-11-21