Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Cntnap5c'

236912

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

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

Stock #

R2176 (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 58320941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 171 (V171A)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

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

AlphaFold

Q0V8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000076038
AA Change: V171A

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

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: V171A

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

0.1773

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,649 (GRCm39)	Y548F	probably benign	Het
Armc9	T	C	1: 86,127,614 (GRCm39)	L83P	probably damaging	Het
BC051665	A	T	13: 60,932,344 (GRCm39)		probably benign	Het
Casp3	A	G	8: 47,082,791 (GRCm39)	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,865,070 (GRCm39)	M109I	probably benign	Het
Ccr6	T	A	17: 8,475,073 (GRCm39)	F93I	probably damaging	Het
Clvs2	T	C	10: 33,471,811 (GRCm39)	S165G	probably damaging	Het
Dennd5a	C	A	7: 109,504,327 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,586,044 (GRCm39)	Y546F	probably benign	Het
Fat2	A	G	11: 55,158,401 (GRCm39)		probably null	Het
Focad	T	A	4: 88,197,481 (GRCm39)	Y625N	unknown	Het
Fyb1	A	G	15: 6,609,435 (GRCm39)	K3E	probably damaging	Het
Gm14496	G	A	2: 181,633,130 (GRCm39)	D38N	probably benign	Het
Gm20403	T	C	12: 55,033,155 (GRCm39)	T54A	probably benign	Het
Gm9830	A	G	9: 44,375,556 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,792,277 (GRCm39)	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,715,233 (GRCm39)	L175S	probably benign	Het
Inhca	A	G	9: 103,136,566 (GRCm39)		probably benign	Het
Itgav	C	T	2: 83,633,599 (GRCm39)	R983C	probably damaging	Het
Kcna10	T	C	3: 107,102,032 (GRCm39)	V221A	probably damaging	Het
Kif13b	G	A	14: 64,907,120 (GRCm39)	V35I	probably benign	Het
Kif6	G	A	17: 50,062,258 (GRCm39)	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,426,042 (GRCm39)	T452A	probably benign	Het
Mllt1	A	G	17: 57,204,398 (GRCm39)	S382P	probably benign	Het
Myo15b	T	C	11: 115,757,398 (GRCm39)	W1083R	probably damaging	Het
Nell2	T	C	15: 95,333,038 (GRCm39)	I174V	probably damaging	Het
Noct	G	A	3: 51,157,117 (GRCm39)		probably null	Het
Nvl	A	T	1: 180,962,639 (GRCm39)		probably benign	Het
Ofcc1	T	C	13: 40,250,595 (GRCm39)	S574G	probably benign	Het
Or10a3m	G	A	7: 108,313,339 (GRCm39)	V248I	probably damaging	Het
Or11h4	T	C	14: 50,973,681 (GRCm39)	M313V	probably benign	Het
Or4a75	A	T	2: 89,447,924 (GRCm39)	M204K	possibly damaging	Het
Pip5k1a	A	T	3: 94,972,807 (GRCm39)	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,623,741 (GRCm39)	P785S	probably damaging	Het
Plcg2	A	G	8: 118,339,733 (GRCm39)	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,570,720 (GRCm39)	V337E	probably benign	Het
Prkg2	T	C	5: 99,114,368 (GRCm39)		probably benign	Het
Prl7a2	T	G	13: 27,843,089 (GRCm39)	Y238S	probably benign	Het
Psg28	T	A	7: 18,161,804 (GRCm39)	D233V	probably damaging	Het
Rad50	A	G	11: 53,589,036 (GRCm39)	C221R	probably benign	Het
Rgl3	A	G	9: 21,887,254 (GRCm39)		probably benign	Het
Rgsl1	T	A	1: 153,701,014 (GRCm39)		probably benign	Het
Ror1	C	A	4: 100,299,071 (GRCm39)	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,275,534 (GRCm39)	D360E	probably benign	Het
Ryr3	T	C	2: 112,496,680 (GRCm39)	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 118,389,616 (GRCm39)	F342I	possibly damaging	Het
Setd5	A	G	6: 113,128,114 (GRCm39)	R1337G	probably benign	Het
Siglecf	T	C	7: 43,001,140 (GRCm39)	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,239,542 (GRCm39)	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,063,587 (GRCm39)	M2280L	probably benign	Het
Syngr2	T	C	11: 117,703,406 (GRCm39)	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,878,866 (GRCm39)	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,258,516 (GRCm39)	E502G	probably damaging	Het
Tph1	T	A	7: 46,311,463 (GRCm39)	D88V	possibly damaging	Het
Tpr	A	G	1: 150,295,691 (GRCm39)	K979E	possibly damaging	Het
Usp47	A	G	7: 111,691,934 (GRCm39)	T799A	probably benign	Het
Utf1	A	G	7: 139,523,920 (GRCm39)	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,956,772 (GRCm39)	C242S	probably damaging	Het
Wrnip1	T	C	13: 33,004,223 (GRCm39)	I498T	probably damaging	Het
Ypel2	T	A	11: 86,862,699 (GRCm39)	H18L	probably benign	Het
Zan	T	G	5: 137,420,110 (GRCm39)	D2849A	unknown	Het
Zfp647	A	T	15: 76,795,860 (GRCm39)	F267I	probably damaging	Het
Zfp786	G	T	6: 47,797,905 (GRCm39)	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,662,614 (GRCm39)	A365S	probably benign	Het
Zswim5	T	C	4: 116,830,238 (GRCm39)	W538R	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
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'- GCATACTTGTGATTATATGGCTCAGTA -3'
(R):5'- ACTTCTCAGCTGAGGTACACAT -3'

Sequencing Primer
(F):5'- GGTTCACCACAAACTGCT -3'
(R):5'- ATGACCAGACCTTTGTGGATCACTG -3'

Posted On

2014-10-02