Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Cntnap5c'

392120

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58076565-58717350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58612679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 906 (F906S)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

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

AlphaFold

Q0V8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000076038
AA Change: F906S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: F906S

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

0.1578

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly 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
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
R6298:Cntnap5c	UTSW	17	58,411,747 (GRCm39)	missense	probably damaging	1.00
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'- TCTGAGGTCATATTTGCCATTGATG -3'
(R):5'- CACAAGTTTATTGCGATGGCC -3'

Sequencing Primer
(F):5'- CATATTTGCCATTGATGTTGGAAATG -3'
(R):5'- TTATTGCGATGGCCATAATGC -3'

Posted On

2016-06-09