Mutagenetix > Incidental Mutation

Incidental Mutation 'R6298:Cntnap5c'

508939

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

044408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58076565-58717350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58411747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 544 (C544R)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076038]

AlphaFold

Q0V8T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076038
AA Change: C544R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: C544R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
FA58C	29	174	1.26e-10	SMART
LamG	201	338	1.57e-29	SMART
LamG	387	521	3e-26	SMART
EGF	549	583	1.88e-1	SMART
Blast:FBG	586	769	8e-83	BLAST
LamG	811	938	4.37e-28	SMART
EGF	959	995	6.55e-1	SMART
LamG	1036	1172	2.08e-11	SMART
transmembrane domain	1240	1262	N/A	INTRINSIC

Meta Mutation Damage Score

0.8931

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,833 (GRCm39)	M733L	probably benign	Het
Acss3	G	A	10: 106,920,717 (GRCm39)	P131L	probably damaging	Het
Adgrv1	T	A	13: 81,539,886 (GRCm39)	I5678F	probably benign	Het
Aff1	C	T	5: 103,902,586 (GRCm39)	L6F	possibly damaging	Het
Ank3	G	T	10: 69,686,006 (GRCm39)	R273L	probably damaging	Het
Anks1b	G	A	10: 90,516,699 (GRCm39)	G898D	probably damaging	Het
Anxa11	C	T	14: 25,873,158 (GRCm39)	P131S	unknown	Het
Ap4e1	T	A	2: 126,889,035 (GRCm39)	M500K	probably benign	Het
Bag3	T	C	7: 128,141,922 (GRCm39)	S138P	probably damaging	Het
Capn9	T	C	8: 125,344,193 (GRCm39)	V670A	probably benign	Het
Ccne2	T	A	4: 11,199,306 (GRCm39)	W236R	probably damaging	Het
Cdh23	A	T	10: 60,262,451 (GRCm39)	Y702*	probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cit	A	T	5: 116,086,124 (GRCm39)	E896V	probably damaging	Het
Cntln	T	A	4: 85,014,998 (GRCm39)	N1096K	probably damaging	Het
Csf1	A	T	3: 107,655,675 (GRCm39)	L452Q	possibly damaging	Het
Cts8	T	A	13: 61,397,037 (GRCm39)	K294N	possibly damaging	Het
Dcakd	T	G	11: 102,890,618 (GRCm39)	E56D	possibly damaging	Het
Dnah17	T	C	11: 117,998,987 (GRCm39)	I929V	probably benign	Het
Dnah2	G	T	11: 69,382,467 (GRCm39)	H1214Q	probably benign	Het
Dock9	T	C	14: 121,872,006 (GRCm39)	D536G	probably damaging	Het
Drc3	A	G	11: 60,284,596 (GRCm39)	N467S	possibly damaging	Het
Dysf	A	G	6: 84,084,118 (GRCm39)		probably null	Het
Ecpas	T	G	4: 58,877,157 (GRCm39)	T93P	probably damaging	Het
Evpl	A	T	11: 116,121,748 (GRCm39)	L378Q	probably damaging	Het
Fer1l4	A	T	2: 155,866,660 (GRCm39)	H1520Q	probably damaging	Het
Fhod1	A	T	8: 106,063,780 (GRCm39)		probably benign	Het
Gabra1	T	A	11: 42,073,205 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm14137	A	G	2: 119,005,572 (GRCm39)	T44A	possibly damaging	Het
H2bl1	T	A	13: 99,120,974 (GRCm39)	R17S	probably benign	Het
Herc2	T	C	7: 55,841,013 (GRCm39)	M3444T	probably benign	Het
Igsf5	T	C	16: 96,197,648 (GRCm39)	S208P	possibly damaging	Het
Ino80b	A	G	6: 83,102,066 (GRCm39)	L12P	possibly damaging	Het
Insrr	A	G	3: 87,720,272 (GRCm39)	D970G	probably damaging	Het
Iqcf4	G	A	9: 106,445,874 (GRCm39)	A91V	probably benign	Het
Itga10	A	G	3: 96,564,078 (GRCm39)	T911A	probably benign	Het
Katnip	T	C	7: 125,469,869 (GRCm39)	V1446A	probably benign	Het
Klhl30	A	T	1: 91,285,086 (GRCm39)	D314V	probably benign	Het
Lpcat1	T	C	13: 73,659,074 (GRCm39)	V330A	possibly damaging	Het
Myef2l	T	C	3: 10,154,239 (GRCm39)	I336T	probably damaging	Het
Nhlrc3	A	T	3: 53,359,944 (GRCm39)	D306E	possibly damaging	Het
Notum	T	A	11: 120,548,766 (GRCm39)	I187F	probably damaging	Het
Nphp3	T	C	9: 103,892,640 (GRCm39)	L288P	probably damaging	Het
Ntrk2	G	T	13: 59,019,570 (GRCm39)	E394*	probably null	Het
Or6k2	T	A	1: 173,979,748 (GRCm39)	V222D	probably benign	Het
Pbld2	A	G	10: 62,874,931 (GRCm39)	K63E	probably benign	Het
Phc2	T	C	4: 128,641,982 (GRCm39)	M768T	possibly damaging	Het
Pik3c2g	G	A	6: 139,603,561 (GRCm39)	C249Y	probably damaging	Het
Plod1	G	A	4: 148,000,772 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,172,772 (GRCm39)	T9S	probably benign	Het
Pnrc1	T	A	4: 33,246,315 (GRCm39)	M215L	probably benign	Het
Prcp	G	T	7: 92,577,841 (GRCm39)	C370F	probably damaging	Het
Pter	A	G	2: 12,983,205 (GRCm39)	N70S	probably damaging	Het
Ptprt	G	T	2: 161,395,779 (GRCm39)	H1131Q	probably damaging	Het
Rasal2	T	C	1: 157,239,432 (GRCm39)	D8G	possibly damaging	Het
Rcn2	A	C	9: 55,960,209 (GRCm39)	K159Q	probably benign	Het
Rex2	T	A	4: 147,141,972 (GRCm39)	C153*	probably null	Het
Rps6ka2	T	C	17: 7,437,766 (GRCm39)	F8S	possibly damaging	Het
Samd9l	A	G	6: 3,375,383 (GRCm39)	L626S	probably damaging	Het
Sptb	A	G	12: 76,667,428 (GRCm39)		probably null	Het
Srgap3	A	T	6: 112,793,571 (GRCm39)	V135D	probably damaging	Het
Srsf7	T	C	17: 80,514,682 (GRCm39)		probably benign	Het
Tacc2	A	G	7: 130,228,255 (GRCm39)	T1647A	probably benign	Het
Thap12	G	T	7: 98,352,612 (GRCm39)	A6S	probably damaging	Het
Tmem33	T	A	5: 67,425,894 (GRCm39)	L146*	probably null	Het
Trip13	C	A	13: 74,084,378 (GRCm39)	E36*	probably null	Het
Vkorc1l1	T	A	5: 129,971,079 (GRCm39)	C23S	probably damaging	Het
Vmn1r20	G	A	6: 57,409,112 (GRCm39)	R146H	probably benign	Het
Vmn1r222	T	A	13: 23,416,965 (GRCm39)	I83F	probably benign	Het
Vmn2r107	A	T	17: 20,576,044 (GRCm39)	I125F	probably benign	Het
Vmn2r116	A	G	17: 23,605,736 (GRCm39)	D216G	probably damaging	Het
Vwa3a	C	T	7: 120,394,874 (GRCm39)	T898I	probably benign	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Wdhd1	T	C	14: 47,510,579 (GRCm39)	D148G	possibly damaging	Het
Xylt1	T	C	7: 117,255,960 (GRCm39)	I844T	probably damaging	Het
Zfp106	A	T	2: 120,353,185 (GRCm39)	V1535D	probably damaging	Het
Zfp385b	A	T	2: 77,244,323 (GRCm39)	L315Q	possibly damaging	Het
Zfp458	T	A	13: 67,404,870 (GRCm39)	H523L	probably damaging	Het
Zfp712	T	C	13: 67,189,393 (GRCm39)	H378R	probably damaging	Het
Zic1	T	C	9: 91,246,556 (GRCm39)	Y172C	probably damaging	Het

Other mutations in Cntnap5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Cntnap5c	APN	17	58,469,272 (GRCm39)	missense	probably benign	0.00
IGL00543:Cntnap5c	APN	17	58,601,345 (GRCm39)	missense	probably benign
IGL00679:Cntnap5c	APN	17	58,362,673 (GRCm39)	missense	probably damaging	0.98
IGL00942:Cntnap5c	APN	17	58,076,593 (GRCm39)	missense	probably benign	0.03
IGL01352:Cntnap5c	APN	17	58,600,896 (GRCm39)	missense	probably benign	0.00
IGL01822:Cntnap5c	APN	17	58,362,700 (GRCm39)	missense	probably damaging	0.99
IGL01864:Cntnap5c	APN	17	58,717,237 (GRCm39)	missense	probably benign
IGL01922:Cntnap5c	APN	17	58,637,114 (GRCm39)	missense	possibly damaging	0.95
IGL02111:Cntnap5c	APN	17	58,409,103 (GRCm39)	missense	probably damaging	1.00
IGL02112:Cntnap5c	APN	17	58,620,853 (GRCm39)	missense	probably benign	0.00
IGL02259:Cntnap5c	APN	17	58,341,857 (GRCm39)	missense	probably damaging	0.98
IGL02270:Cntnap5c	APN	17	58,341,848 (GRCm39)	missense	probably benign	0.08
IGL02312:Cntnap5c	APN	17	58,445,694 (GRCm39)	missense	probably benign	0.09
IGL02456:Cntnap5c	APN	17	58,714,739 (GRCm39)	splice site	probably benign
IGL02755:Cntnap5c	APN	17	58,671,189 (GRCm39)	missense	probably benign	0.02
IGL02955:Cntnap5c	APN	17	58,199,097 (GRCm39)	splice site	probably benign
IGL03001:Cntnap5c	APN	17	58,362,634 (GRCm39)	missense	probably damaging	1.00
IGL03012:Cntnap5c	APN	17	58,666,229 (GRCm39)	missense	probably benign	0.01
IGL03243:Cntnap5c	APN	17	58,409,171 (GRCm39)	missense	probably benign	0.01
IGL03375:Cntnap5c	APN	17	58,469,200 (GRCm39)	missense	possibly damaging	0.94
IGL02802:Cntnap5c	UTSW	17	58,612,679 (GRCm39)	missense	probably benign	0.04
LCD18:Cntnap5c	UTSW	17	58,469,155 (GRCm39)	intron	probably benign
R0003:Cntnap5c	UTSW	17	58,506,012 (GRCm39)	missense	probably benign
R0041:Cntnap5c	UTSW	17	58,183,464 (GRCm39)	missense	probably benign	0.00
R0041:Cntnap5c	UTSW	17	58,183,464 (GRCm39)	missense	probably benign	0.00
R0046:Cntnap5c	UTSW	17	58,666,295 (GRCm39)	missense	probably benign
R0046:Cntnap5c	UTSW	17	58,666,295 (GRCm39)	missense	probably benign
R0179:Cntnap5c	UTSW	17	58,076,620 (GRCm39)	missense	probably benign	0.19
R0244:Cntnap5c	UTSW	17	58,409,163 (GRCm39)	missense	probably damaging	1.00
R0445:Cntnap5c	UTSW	17	58,411,738 (GRCm39)	missense	probably benign	0.01
R0626:Cntnap5c	UTSW	17	58,349,422 (GRCm39)	missense	probably benign	0.29
R0675:Cntnap5c	UTSW	17	58,341,990 (GRCm39)	missense	probably damaging	1.00
R0681:Cntnap5c	UTSW	17	58,612,550 (GRCm39)	missense	possibly damaging	0.91
R0699:Cntnap5c	UTSW	17	58,349,493 (GRCm39)	missense	probably damaging	1.00
R0927:Cntnap5c	UTSW	17	58,349,553 (GRCm39)	missense	possibly damaging	0.78
R1081:Cntnap5c	UTSW	17	58,612,520 (GRCm39)	missense	possibly damaging	0.90
R1132:Cntnap5c	UTSW	17	58,601,351 (GRCm39)	missense	probably damaging	1.00
R1175:Cntnap5c	UTSW	17	58,671,241 (GRCm39)	missense	possibly damaging	0.51
R1640:Cntnap5c	UTSW	17	58,702,289 (GRCm39)	missense	probably benign	0.01
R1664:Cntnap5c	UTSW	17	58,600,985 (GRCm39)	missense	probably benign	0.00
R1758:Cntnap5c	UTSW	17	58,349,545 (GRCm39)	missense	probably damaging	1.00
R1785:Cntnap5c	UTSW	17	58,469,286 (GRCm39)	missense	probably benign	0.00
R1789:Cntnap5c	UTSW	17	58,320,916 (GRCm39)	missense	probably damaging	1.00
R1968:Cntnap5c	UTSW	17	58,666,291 (GRCm39)	missense	probably damaging	1.00
R2041:Cntnap5c	UTSW	17	58,505,984 (GRCm39)	missense	probably benign	0.02
R2041:Cntnap5c	UTSW	17	58,411,765 (GRCm39)	critical splice donor site	probably null
R2073:Cntnap5c	UTSW	17	58,612,547 (GRCm39)	missense	possibly damaging	0.58
R2093:Cntnap5c	UTSW	17	58,505,995 (GRCm39)	missense	probably benign	0.00
R2134:Cntnap5c	UTSW	17	58,714,717 (GRCm39)	missense	probably damaging	1.00
R2153:Cntnap5c	UTSW	17	58,362,666 (GRCm39)	missense	possibly damaging	0.90
R2176:Cntnap5c	UTSW	17	58,320,941 (GRCm39)	missense	probably benign	0.04
R2256:Cntnap5c	UTSW	17	58,637,310 (GRCm39)	missense	probably benign	0.00
R2847:Cntnap5c	UTSW	17	58,183,387 (GRCm39)	missense	probably damaging	0.99
R2848:Cntnap5c	UTSW	17	58,183,387 (GRCm39)	missense	probably damaging	0.99
R2850:Cntnap5c	UTSW	17	58,717,343 (GRCm39)	utr 3 prime	probably benign
R3008:Cntnap5c	UTSW	17	58,666,204 (GRCm39)	missense	probably damaging	1.00
R3714:Cntnap5c	UTSW	17	58,199,062 (GRCm39)	nonsense	probably null
R3720:Cntnap5c	UTSW	17	58,637,197 (GRCm39)	missense	probably benign
R3755:Cntnap5c	UTSW	17	58,411,594 (GRCm39)	missense	possibly damaging	0.82
R4001:Cntnap5c	UTSW	17	58,714,735 (GRCm39)	critical splice donor site	probably null
R4619:Cntnap5c	UTSW	17	58,717,263 (GRCm39)	missense	probably benign
R5146:Cntnap5c	UTSW	17	58,320,842 (GRCm39)	missense	probably damaging	0.96
R5309:Cntnap5c	UTSW	17	58,666,249 (GRCm39)	missense	probably benign	0.05
R5312:Cntnap5c	UTSW	17	58,666,249 (GRCm39)	missense	probably benign	0.05
R5722:Cntnap5c	UTSW	17	58,620,852 (GRCm39)	missense	probably benign	0.01
R5974:Cntnap5c	UTSW	17	58,183,480 (GRCm39)	missense	probably benign	0.00
R6017:Cntnap5c	UTSW	17	58,411,693 (GRCm39)	missense	probably benign	0.41
R6059:Cntnap5c	UTSW	17	58,620,707 (GRCm39)	missense	probably damaging	0.99
R6152:Cntnap5c	UTSW	17	58,593,881 (GRCm39)	missense	possibly damaging	0.65
R6182:Cntnap5c	UTSW	17	58,183,390 (GRCm39)	missense	probably benign	0.00
R6301:Cntnap5c	UTSW	17	58,199,032 (GRCm39)	missense	probably benign	0.01
R6514:Cntnap5c	UTSW	17	58,637,165 (GRCm39)	missense	probably damaging	0.96
R6583:Cntnap5c	UTSW	17	58,637,272 (GRCm39)	missense	probably damaging	1.00
R6688:Cntnap5c	UTSW	17	58,600,899 (GRCm39)	missense	possibly damaging	0.71
R6781:Cntnap5c	UTSW	17	58,445,648 (GRCm39)	nonsense	probably null
R6866:Cntnap5c	UTSW	17	58,399,289 (GRCm39)	missense	probably benign
R6906:Cntnap5c	UTSW	17	58,702,302 (GRCm39)	missense	probably benign	0.18
R6911:Cntnap5c	UTSW	17	58,199,009 (GRCm39)	missense	probably damaging	1.00
R6919:Cntnap5c	UTSW	17	58,600,948 (GRCm39)	missense	probably benign	0.02
R6923:Cntnap5c	UTSW	17	58,399,345 (GRCm39)	missense	possibly damaging	0.96
R6925:Cntnap5c	UTSW	17	58,702,261 (GRCm39)	missense	probably benign	0.39
R6982:Cntnap5c	UTSW	17	58,399,247 (GRCm39)	missense	possibly damaging	0.77
R7144:Cntnap5c	UTSW	17	58,593,883 (GRCm39)	missense	probably benign
R7422:Cntnap5c	UTSW	17	58,717,226 (GRCm39)	nonsense	probably null
R7797:Cntnap5c	UTSW	17	58,666,270 (GRCm39)	missense	probably benign	0.11
R7830:Cntnap5c	UTSW	17	58,469,245 (GRCm39)	missense	probably damaging	1.00
R8169:Cntnap5c	UTSW	17	58,411,765 (GRCm39)	critical splice donor site	probably null
R8351:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8352:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8451:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8452:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8696:Cntnap5c	UTSW	17	58,601,294 (GRCm39)	missense	probably damaging	1.00
R8725:Cntnap5c	UTSW	17	58,362,663 (GRCm39)	missense	probably damaging	1.00
R8838:Cntnap5c	UTSW	17	58,198,964 (GRCm39)	missense
R8901:Cntnap5c	UTSW	17	58,637,156 (GRCm39)	missense	probably benign	0.03
R8911:Cntnap5c	UTSW	17	58,506,043 (GRCm39)	missense	probably damaging	0.98
R9010:Cntnap5c	UTSW	17	58,671,159 (GRCm39)	missense	probably benign	0.00
R9065:Cntnap5c	UTSW	17	58,445,642 (GRCm39)	missense	probably damaging	1.00
R9082:Cntnap5c	UTSW	17	58,637,335 (GRCm39)	missense	probably damaging	0.98
R9122:Cntnap5c	UTSW	17	58,411,601 (GRCm39)	missense	probably benign	0.01
R9137:Cntnap5c	UTSW	17	58,601,203 (GRCm39)	splice site	probably benign
R9176:Cntnap5c	UTSW	17	58,620,730 (GRCm39)	missense	probably damaging	1.00
R9179:Cntnap5c	UTSW	17	58,600,912 (GRCm39)	missense	probably benign	0.14
R9352:Cntnap5c	UTSW	17	58,399,463 (GRCm39)	missense	probably benign	0.01
R9485:Cntnap5c	UTSW	17	58,409,103 (GRCm39)	missense	probably damaging	1.00
R9558:Cntnap5c	UTSW	17	58,671,157 (GRCm39)	critical splice acceptor site	probably null
R9792:Cntnap5c	UTSW	17	58,409,192 (GRCm39)	missense	probably benign	0.03
R9793:Cntnap5c	UTSW	17	58,409,192 (GRCm39)	missense	probably benign	0.03
R9795:Cntnap5c	UTSW	17	58,409,192 (GRCm39)	missense	probably benign	0.03
RF010:Cntnap5c	UTSW	17	58,593,790 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATCATTTCAGTGCTCTTCATG -3'
(R):5'- TACTGCACGTTAACTTGAAGAGG -3'

Sequencing Primer
(F):5'- CCCGATTAAGGCTTTCCA -3'
(R):5'- AACCGTTTTCTCTGGACTTGAAATC -3'

Posted On

2018-04-02