Mutagenetix > Incidental Mutation

Incidental Mutation 'R8901:Cntnap5c'

679988

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

068758-MU

Accession Numbers

Essential gene?

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

Stock #

R8901 (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 58637156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1011 (M1011K)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

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

AlphaFold

Q0V8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000076038
AA Change: M1011K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: M1011K

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: 99.4%
20x: 97.8%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprm	T	C	11: 66,932,564 (GRCm39)	N115S	probably damaging	Het
Agbl5	T	C	5: 31,048,435 (GRCm39)	V169A	possibly damaging	Het
Ajuba	T	C	14: 54,807,830 (GRCm39)		probably benign	Het
Ankrd27	G	A	7: 35,332,243 (GRCm39)		probably benign	Het
Brat1	T	A	5: 140,698,608 (GRCm39)	M260K	probably benign	Het
Btbd6	G	T	12: 112,940,220 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,394,248 (GRCm39)	G503S	probably benign	Het
Ces1e	C	T	8: 93,937,103 (GRCm39)	D323N	probably damaging	Het
Chrna5	T	C	9: 54,911,737 (GRCm39)	F75S	probably damaging	Het
Clmn	A	T	12: 104,747,211 (GRCm39)	S779T	probably benign	Het
Col11a2	A	T	17: 34,262,254 (GRCm39)	I164F	probably damaging	Het
Daw1	A	C	1: 83,183,643 (GRCm39)	K231T	possibly damaging	Het
Dnah5	T	G	15: 28,365,715 (GRCm39)	M2637R	possibly damaging	Het
Dsp	G	A	13: 38,365,155 (GRCm39)	V513M	probably damaging	Het
Eea1	T	G	10: 95,825,431 (GRCm39)	I42R	probably damaging	Het
Ehd4	A	T	2: 119,932,805 (GRCm39)	I207N	probably damaging	Het
F11	T	C	8: 45,701,851 (GRCm39)	T320A	probably benign	Het
Fhdc1	T	A	3: 84,352,874 (GRCm39)	M784L	probably benign	Het
Gm21411	G	A	4: 146,982,171 (GRCm39)	Q10*	probably null	Het
Gnao1	T	C	8: 94,694,687 (GRCm39)	M70T	probably benign	Het
Gtf2i	A	G	5: 134,324,389 (GRCm39)	F25S	probably damaging	Het
H2-T3	A	T	17: 36,498,252 (GRCm39)	D220E	probably damaging	Het
Hnrnpul2	T	G	19: 8,801,809 (GRCm39)	L339R	probably damaging	Het
Impg2	A	T	16: 56,072,528 (GRCm39)	D320V	probably damaging	Het
Itga2b	A	T	11: 102,351,630 (GRCm39)	L565Q	probably damaging	Het
Jph3	A	T	8: 122,457,561 (GRCm39)	Q67L	probably damaging	Het
Khnyn	T	C	14: 56,124,043 (GRCm39)	F99S	probably damaging	Het
Lhcgr	A	T	17: 89,063,030 (GRCm39)	L214Q	probably damaging	Het
Lix1l	C	A	3: 96,508,745 (GRCm39)		probably benign	Het
Mettl13	C	T	1: 162,373,814 (GRCm39)	V95I	possibly damaging	Het
Nod2	C	T	8: 89,390,437 (GRCm39)	T226M	probably damaging	Het
Nwd2	T	C	5: 63,963,685 (GRCm39)	W1090R	probably damaging	Het
Or2y1c	A	T	11: 49,361,035 (GRCm39)	D19V	probably damaging	Het
Pla2r1	C	A	2: 60,332,400 (GRCm39)	V481F		Het
Polr1b	T	A	2: 128,967,595 (GRCm39)	V996E	probably damaging	Het
Ppfia3	T	A	7: 44,991,141 (GRCm39)	R1027W	probably damaging	Het
Pramel21	A	T	4: 143,343,677 (GRCm39)	I326F	probably benign	Het
Rap1gds1	T	C	3: 138,663,305 (GRCm39)	D298G	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Scn3a	C	T	2: 65,352,252 (GRCm39)	V353M	probably benign	Het
Setd1b	T	C	5: 123,299,114 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,646,799 (GRCm39)	V19A	probably benign	Het
Smarcal1	T	C	1: 72,624,939 (GRCm39)	S29P	possibly damaging	Het
Sntb2	T	C	8: 107,737,975 (GRCm39)	F508L	possibly damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Syt15	G	T	14: 33,948,028 (GRCm39)	R291L	probably damaging	Het
Tas2r114	T	A	6: 131,666,914 (GRCm39)	N38I	probably damaging	Het
Tg	T	A	15: 66,557,184 (GRCm39)	N948K	probably damaging	Het
Tmem115	A	G	9: 107,411,993 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,146 (GRCm39)	D175N	probably benign	Het
Txk	T	A	5: 72,858,050 (GRCm39)	Y398F	probably damaging	Het
Wdr36	C	A	18: 32,980,013 (GRCm39)	T246K	probably damaging	Het
Wdr43	A	T	17: 71,932,461 (GRCm39)	R113S	probably benign	Het
Ybx1	T	C	4: 119,138,785 (GRCm39)	Y239C	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
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
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'- TTCCTACTCAGATCTCTGGCAG -3'
(R):5'- CATTCCAGGAGAGCAAAATAGC -3'

Sequencing Primer
(F):5'- CTACTCAGATCTCTGGCAGGGTAG -3'
(R):5'- GGAGAGCAAAATAGCCAGAAAATTC -3'

Posted On

2021-08-31