Mutagenetix > Incidental Mutations

Incidental Mutation 'R5761:Ccdc187'

445277

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

043363-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5761 (G1)

Quality Score

225

Status

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: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,210,101	V953D	probably damaging	Het
Abcb8	T	C	5: 24,405,881		probably benign	Het
Acad12	A	T	5: 121,604,180		probably benign	Het
Adam2	A	T	14: 66,046,146	C436S	probably damaging	Het
Aebp2	T	C	6: 140,624,217		probably benign	Het
AI314180	T	C	4: 58,853,131	I401M	probably damaging	Het
Akap8	A	T	17: 32,317,185	C85S	possibly damaging	Het
Aldh1a3	C	A	7: 66,419,179	R19L	probably damaging	Het
Baz2a	A	G	10: 128,119,690	T848A	possibly damaging	Het
Bud13	C	T	9: 46,288,052	A237V	probably benign	Het
Cbarp	CGCCTCTGCTGCCTCT	CGCCTCT	10: 80,132,233		probably benign	Het
Ccz1	C	T	5: 143,992,510	G367R	probably damaging	Het
Cep104	T	C	4: 153,981,224	V56A	possibly damaging	Het
Chd6	C	A	2: 160,957,078	R2362S	probably damaging	Het
Chd6	C	T	2: 160,957,079	R2362K	probably damaging	Het
Cmc1	T	C	9: 118,115,375	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,446,894	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,716,057	L66*	probably null	Het
Crmp1	A	G	5: 37,282,868	T329A	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,442,033	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 71,996,131	I225F	probably damaging	Het
Ddhd2	A	G	8: 25,741,699	V432A	probably benign	Het
Foxq1	G	A	13: 31,559,331	A139T	probably damaging	Het
Gm10428	G	T	11: 62,753,343		probably benign	Het
Gpr89	A	G	3: 96,892,880	L134P	probably damaging	Het
Hfe2	T	C	3: 96,528,622	S399P	probably benign	Het
Hrc	A	T	7: 45,336,601		probably null	Het
Igf1r	T	A	7: 68,207,253	Y988N	probably damaging	Het
Igf2r	A	C	17: 12,698,352		probably null	Het
Itga2b	A	G	11: 102,466,274	F260S	probably benign	Het
Kif2a	T	A	13: 106,962,164	N698I	probably benign	Het
Lap3	A	C	5: 45,504,805	I316L	probably benign	Het
Map2k6	T	G	11: 110,399,371		probably benign	Het
Myh1	A	G	11: 67,219,252	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,408,141	V1081A	probably benign	Het
Nom1	A	G	5: 29,437,641	E380G	probably damaging	Het
Nwd2	A	T	5: 63,725,230	Y75F	probably damaging	Het
Olfr401	T	A	11: 74,121,509	D73E	probably damaging	Het
Olfr645	G	A	7: 104,084,169	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,916,301	V518A	probably damaging	Het
Ptgs2	A	G	1: 150,105,528	M521V	probably benign	Het
Qsox1	T	A	1: 155,779,528	M630L	probably benign	Het
Skiv2l2	T	A	13: 112,917,662	I146F	probably damaging	Het
Spty2d1	A	G	7: 46,998,284	L299P	probably damaging	Het
St6gal1	T	G	16: 23,321,055		probably benign	Het
Sult2a6	T	C	7: 14,250,358	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,402,771	T124M	probably benign	Het
Tmem171	A	G	13: 98,692,511	Y44H	probably damaging	Het
Usp35	C	T	7: 97,312,351	V623I	probably benign	Het
Vangl2	T	A	1: 172,006,127	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,808,480	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,405,353	K297I	unknown	Het
Vmn2r23	C	A	6: 123,712,759	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 85,304,015		noncoding transcript	Het
Xirp2	A	G	2: 67,510,967	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,835,951		probably benign	Het
Zbtb39	C	T	10: 127,742,646	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,304	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,306	P534T	probably 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
R5762: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
Z1176:Ccdc187	UTSW	2	26281507	missense	probably benign	0.04

Predicted Primers

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

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

Posted On

2016-11-21