Mutagenetix > Incidental Mutation

Incidental Mutation 'R6923:Cntnap5c'

539757

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

045381-MU

Accession Numbers

Essential gene?

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

Stock #

R6923 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58076565-58717350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58399345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 399 (N399K)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

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

AlphaFold

Q0V8T7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076038
AA Change: N399K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: N399K

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: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	A	G	5: 90,725,652 (GRCm39)	N288S	probably benign	Het
Ap4b1	T	A	3: 103,719,530 (GRCm39)	D81E	probably benign	Het
Atg16l1	A	T	1: 87,702,078 (GRCm39)		probably null	Het
Atp11a	A	G	8: 12,906,949 (GRCm39)	T459A	probably damaging	Het
Bloc1s5	T	A	13: 38,815,040 (GRCm39)	I40F	probably damaging	Het
Bltp2	T	A	11: 78,165,452 (GRCm39)	S1323T	possibly damaging	Het
Capn5	T	A	7: 97,778,461 (GRCm39)	Q386L	probably damaging	Het
Cbfa2t2	C	T	2: 154,376,903 (GRCm39)	H529Y	probably damaging	Het
Cd3d	T	C	9: 44,897,157 (GRCm39)		probably benign	Het
Cenpa	A	G	5: 30,829,806 (GRCm39)		probably null	Het
Chit1	A	T	1: 134,077,163 (GRCm39)	Y322F	probably null	Het
Dock8	A	T	19: 25,072,970 (GRCm39)	T417S	probably benign	Het
Firrm	A	G	1: 163,814,454 (GRCm39)		probably null	Het
Fkbp2	A	G	19: 6,956,537 (GRCm39)			Het
Fsip1	G	A	2: 118,080,394 (GRCm39)	R121C	probably benign	Het
Gbp2b	T	C	3: 142,306,320 (GRCm39)	I131T	probably benign	Het
Gm12695	T	C	4: 96,658,053 (GRCm39)	N39D	probably benign	Het
Gm4922	T	C	10: 18,659,616 (GRCm39)	R369G	probably damaging	Het
Gpatch3	C	T	4: 133,309,836 (GRCm39)	L390F	probably damaging	Het
Gpd2	G	A	2: 57,245,800 (GRCm39)	M443I	probably damaging	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hdac1-ps	A	G	17: 78,800,343 (GRCm39)	T445A	possibly damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Me3	C	A	7: 89,495,093 (GRCm39)	A337E	probably damaging	Het
Mndal	A	C	1: 173,712,264 (GRCm39)		probably null	Het
Msantd5l	C	T	11: 51,144,808 (GRCm39)	D158N	probably damaging	Het
Muc6	C	T	7: 141,217,453 (GRCm39)	E2342K	possibly damaging	Het
Neb	A	G	2: 52,076,076 (GRCm39)	V5659A	probably damaging	Het
Nkapd1	T	A	9: 50,521,610 (GRCm39)	I104L	probably benign	Het
Nrxn1	G	A	17: 91,395,661 (GRCm39)	A165V	probably benign	Het
Or5b94	T	A	19: 12,652,409 (GRCm39)	I280N	possibly damaging	Het
Or5b97	T	C	19: 12,878,676 (GRCm39)	N156S	probably benign	Het
Orc2	A	G	1: 58,539,534 (GRCm39)	L35S	probably benign	Het
Pax4	A	G	6: 28,447,118 (GRCm39)		probably null	Het
Pcdhb7	C	T	18: 37,475,522 (GRCm39)		probably null	Het
Pla2r1	C	T	2: 60,345,310 (GRCm39)	E349K	probably benign	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pramel23	A	T	4: 143,425,676 (GRCm39)	I89N	probably benign	Het
Prpf38a	G	T	4: 108,427,401 (GRCm39)	D187E	possibly damaging	Het
Rdh16f1	T	A	10: 127,624,737 (GRCm39)		probably null	Het
S100z	T	A	13: 95,615,090 (GRCm39)	D25V	probably damaging	Het
Scamp2	T	G	9: 57,488,895 (GRCm39)	F199V	probably damaging	Het
Semp2l2b	C	A	10: 21,943,654 (GRCm39)	G109C	probably damaging	Het
Senp2	T	G	16: 21,830,326 (GRCm39)		probably benign	Het
Sltm	T	A	9: 70,481,892 (GRCm39)	S365T	probably damaging	Het
Smg6	C	G	11: 74,820,169 (GRCm39)	P147A	possibly damaging	Het
Spem2	T	A	11: 69,708,603 (GRCm39)	R121W	probably damaging	Het
Sufu	A	G	19: 46,439,405 (GRCm39)		probably null	Het
Syt2	T	C	1: 134,674,501 (GRCm39)	V313A	possibly damaging	Het
Tet2	C	T	3: 133,185,102 (GRCm39)		probably null	Het
Tfeb	T	A	17: 48,097,908 (GRCm39)	I232N	probably benign	Het
Ticrr	T	G	7: 79,341,601 (GRCm39)	I1062M	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vrk2	G	A	11: 26,439,893 (GRCm39)	A226V	probably damaging	Het
Wnk1	A	T	6: 119,942,639 (GRCm39)		probably benign	Het
Xpo4	G	T	14: 57,841,168 (GRCm39)	T505K	probably benign	Het
Yy1	A	T	12: 108,759,594 (GRCm39)	I86F	probably benign	Het
Zc3h15	A	G	2: 83,487,400 (GRCm39)	D73G	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
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
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'- ATCAATGCTGGTATATGTGTCCC -3'
(R):5'- AGCCTGAGACCATTTCTATCAC -3'

Sequencing Primer
(F):5'- GGTATAGTTGAATGTGGAATAATCCC -3'
(R):5'- GCCTGAGACCATTTCTATCACCTAAG -3'

Posted On

2018-11-06