Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Cntnap5c'

501691

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58076565-58717350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58183480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 62 (M62K)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

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

AlphaFold

Q0V8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000076038
AA Change: M62K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: M62K

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Des	T	A	1: 75,339,628 (GRCm39)	S329T	probably benign	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Dock3	A	G	9: 106,871,261 (GRCm39)	V547A	probably damaging	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Fut9	A	C	4: 25,620,090 (GRCm39)	Y241*	probably null	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Nup42	T	C	5: 24,372,400 (GRCm39)	S63P	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pknox2	A	G	9: 36,847,618 (GRCm39)	L133P	probably damaging	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ripk1	T	A	13: 34,214,084 (GRCm39)	Y475*	probably null	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Skint1	T	A	4: 111,876,516 (GRCm39)	S146T	probably benign	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	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
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'- CCTAGCTTCTCCAGAGCAAATG -3'
(R):5'- ATGTTGCCTATTACATGCTGGG -3'

Sequencing Primer
(F):5'- TCTCCAGAGCAAATGGTTAATAAAC -3'
(R):5'- GTTGCCTATTACATGCTGGGAAGAAC -3'

Posted On

2017-12-01