Mutagenetix > Incidental Mutation

Incidental Mutation 'R8696:Cntnap5c'

668741

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

068550-MU

Accession Numbers

Essential gene?

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

Stock #

R8696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58076565-58717350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58601294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 814 (D814V)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

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

AlphaFold

Q0V8T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076038
AA Change: D814V

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

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: D814V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,687,235 (GRCm39)	N423S	probably benign	Het
Adgrl4	T	C	3: 151,248,344 (GRCm39)	L672P	probably damaging	Het
Akr1b10	C	T	6: 34,369,067 (GRCm39)	T182I	possibly damaging	Het
Ankrd33	A	G	15: 101,014,864 (GRCm39)	I84V	probably benign	Het
Arhgap32	A	G	9: 32,159,799 (GRCm39)	Y272C	possibly damaging	Het
Arid4a	T	C	12: 71,110,090 (GRCm39)	S144P	probably damaging	Het
Bicd1	A	G	6: 149,415,285 (GRCm39)	D666G	probably damaging	Het
Blk	A	T	14: 63,618,149 (GRCm39)		probably benign	Het
Btbd2	C	T	10: 80,480,515 (GRCm39)	R366Q	possibly damaging	Het
Cacna1i	T	C	15: 80,266,175 (GRCm39)	V1554A	probably damaging	Het
Camsap3	T	C	8: 3,653,614 (GRCm39)	L428P	probably damaging	Het
Ccdc30	T	G	4: 119,234,505 (GRCm39)	Y69S	possibly damaging	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdk11b	T	C	4: 155,732,779 (GRCm39)	V539A	unknown	Het
Ceacam3	A	T	7: 16,893,937 (GRCm39)	N483Y		Het
Cenpf	C	T	1: 189,390,194 (GRCm39)	A1213T	probably benign	Het
Chrna6	G	T	8: 27,897,195 (GRCm39)	Y227*	probably null	Het
Csl	A	T	10: 99,594,826 (GRCm39)	Y80N	probably damaging	Het
Ctsm	A	G	13: 61,685,521 (GRCm39)	L297P	probably damaging	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dhx8	T	C	11: 101,623,958 (GRCm39)	V31A	unknown	Het
Dis3l2	G	T	1: 86,719,162 (GRCm39)	G131*	probably null	Het
Dkk1	G	A	19: 30,526,688 (GRCm39)	A31V	probably damaging	Het
Dlx3	C	T	11: 95,012,596 (GRCm39)	R130*	probably null	Het
Dnajc24	T	C	2: 105,832,315 (GRCm39)	M23V	probably benign	Het
Dnmbp	T	A	19: 43,862,662 (GRCm39)	N76I	probably damaging	Het
Ezh1	T	C	11: 101,100,305 (GRCm39)	N226S	probably benign	Het
Fabp9	C	T	3: 10,259,047 (GRCm39)	V120M	possibly damaging	Het
Fcrlb	A	G	1: 170,739,648 (GRCm39)	C85R	probably damaging	Het
Gnai2	A	C	9: 107,496,968 (GRCm39)	L131R		Het
Gprin1	A	G	13: 54,885,764 (GRCm39)	W837R	probably damaging	Het
Grm3	C	T	5: 9,562,311 (GRCm39)	C513Y	probably damaging	Het
H60c	T	A	10: 3,210,265 (GRCm39)	I95F	possibly damaging	Het
Hecw1	A	G	13: 14,531,743 (GRCm39)	V177A	possibly damaging	Het
Herc6	T	A	6: 57,624,134 (GRCm39)	C635S	probably benign	Het
Itga4	A	T	2: 79,112,125 (GRCm39)	M347L	probably benign	Het
Kif20b	A	G	19: 34,914,752 (GRCm39)	H436R	probably benign	Het
Klrg2	G	T	6: 38,613,430 (GRCm39)	P191Q	possibly damaging	Het
Krt5	A	G	15: 101,618,742 (GRCm39)	Y340H	probably damaging	Het
Map9	T	A	3: 82,270,668 (GRCm39)	H77Q	possibly damaging	Het
Mfsd13a	A	G	19: 46,356,557 (GRCm39)	T221A	probably benign	Het
Myo10	C	G	15: 25,799,572 (GRCm39)	H1378Q	probably damaging	Het
Nkx6-1	T	C	5: 101,807,513 (GRCm39)	T290A	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Notch1	T	A	2: 26,368,004 (GRCm39)		probably benign	Het
Nr1d2	A	T	14: 18,216,661 (GRCm38)	M169K	probably damaging	Het
Or10ak8	C	T	4: 118,774,635 (GRCm39)	V10I	probably benign	Het
Or11g1	A	G	14: 50,651,420 (GRCm39)	M140V	possibly damaging	Het
Or13c7c	A	G	4: 43,836,193 (GRCm39)	V99A	probably benign	Het
Or6c69b	A	T	10: 129,626,562 (GRCm39)	F299I	possibly damaging	Het
Or8b41	A	G	9: 38,054,433 (GRCm39)	M1V	probably null	Het
Pdia6	T	A	12: 17,329,662 (GRCm39)	I266K	probably damaging	Het
Phactr4	T	C	4: 132,091,105 (GRCm39)		probably null	Het
Polr1b	T	A	2: 128,967,571 (GRCm39)	L988Q	probably damaging	Het
Por	A	T	5: 135,763,112 (GRCm39)	M541L	probably benign	Het
Ppid	T	C	3: 79,498,689 (GRCm39)		probably benign	Het
Prp2	A	T	6: 132,577,322 (GRCm39)	Q203L	unknown	Het
Psme4	T	G	11: 30,759,896 (GRCm39)	F340V	probably damaging	Het
Ptges2	T	C	2: 32,290,077 (GRCm39)	S164P	probably damaging	Het
Rab18	G	A	18: 6,788,635 (GRCm39)	G201S	probably damaging	Het
Rbm19	A	G	5: 120,265,132 (GRCm39)	E391G	probably damaging	Het
Rcbtb2	T	G	14: 73,404,305 (GRCm39)	V259G	probably damaging	Het
Rpn1	C	A	6: 88,080,359 (GRCm39)	Q553K	possibly damaging	Het
Sash1	A	G	10: 8,609,459 (GRCm39)	S697P	probably damaging	Het
Sdad1	T	G	5: 92,437,645 (GRCm39)	H603P	probably damaging	Het
Serpini1	T	C	3: 75,520,544 (GRCm39)	L47P	probably damaging	Het
Sorbs2	T	A	8: 46,248,686 (GRCm39)	S646T	possibly damaging	Het
Spdye4a	T	A	5: 143,210,754 (GRCm39)	E105D	probably benign	Het
Srsf12	G	A	4: 33,231,181 (GRCm39)	C230Y	possibly damaging	Het
Stard9	A	T	2: 120,531,595 (GRCm39)	R2617S	probably benign	Het
Tas2r118	G	T	6: 23,969,344 (GRCm39)	T239K	probably damaging	Het
Tlr1	A	G	5: 65,084,094 (GRCm39)	L161P	probably benign	Het
Ttc21a	T	G	9: 119,772,977 (GRCm39)	V218G	possibly damaging	Het
Ttc6	T	C	12: 57,784,492 (GRCm39)	S1854P	probably benign	Het
Unc93a	A	G	17: 13,341,852 (GRCm39)	L93P	probably damaging	Het
Vcan	A	T	13: 89,839,217 (GRCm39)	I2109N	probably benign	Het
Vmn1r225	A	T	17: 20,723,419 (GRCm39)	S287C	probably damaging	Het
Vmn1r43	A	G	6: 89,847,321 (GRCm39)	F55S	probably damaging	Het
Zfp772	T	C	7: 7,208,518 (GRCm39)	T109A	possibly damaging	Het
Zfp87	A	G	13: 74,520,599 (GRCm39)	Y160H	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
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
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'- AGCATAACAGATTTTGGCTCCC -3'
(R):5'- GAAAACTTGTACTGATGGCTGG -3'

Sequencing Primer
(F):5'- GCATAACAGATTTTGGCTCCCTTATC -3'
(R):5'- CTGGTGGCAGAGATAAAGTGAATAC -3'

Posted On

2021-04-30