Mutagenetix > Incidental Mutation

Incidental Mutation 'R8041:Cntnap5a'

618497

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5a

Ensembl Gene

ENSMUSG00000070695

Gene Name

contactin associated protein-like 5A

Synonyms

Caspr5-1

MMRRC Submission

067478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8041 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115612486-116515053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116187209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 594 (Y594N)

Ref Sequence

ENSEMBL: ENSMUSP00000035732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043725]

AlphaFold

Q0V8T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000043725
AA Change: Y594N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: Y594N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
FA58C	33	174	1.63e-13	SMART
LamG	201	338	1.4e-26	SMART
LamG	388	522	1.5e-26	SMART
EGF	550	584	2.16e-1	SMART
Blast:FBG	587	772	2e-81	BLAST
LamG	812	939	1.54e-28	SMART
EGF	960	996	2.28e0	SMART
LamG	1037	1173	4.73e-15	SMART
transmembrane domain	1241	1263	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	A	T	18: 61,891,754 (GRCm39)	L21Q	probably damaging	Het
Ago1	G	A	4: 126,335,729 (GRCm39)	R661C	probably damaging	Het
Albfm1	T	A	5: 90,740,864 (GRCm39)		probably null	Het
Aoc3	T	C	11: 101,223,132 (GRCm39)	V456A	probably benign	Het
Aopep	G	C	13: 63,180,921 (GRCm39)	W294C	probably damaging	Het
Cacna1b	A	T	2: 24,547,311 (GRCm39)	F1223L	probably damaging	Het
Ccdc40	T	C	11: 119,122,507 (GRCm39)	F33S	possibly damaging	Het
Ccnjl	T	C	11: 43,470,538 (GRCm39)	V102A	probably damaging	Het
Cd48	T	C	1: 171,526,958 (GRCm39)	V128A	probably damaging	Het
Cmah	A	G	13: 24,652,601 (GRCm39)	D577G	probably benign	Het
Cnnm4	A	G	1: 36,511,174 (GRCm39)	K134R	probably benign	Het
Col14a1	A	G	15: 55,318,626 (GRCm39)	E1375G	unknown	Het
Comtd1	T	A	14: 21,897,985 (GRCm39)	E153V	probably benign	Het
Dchs1	T	A	7: 105,404,395 (GRCm39)	T2716S	probably benign	Het
Ddx4	A	T	13: 112,762,928 (GRCm39)	S143T	probably benign	Het
Dlg1	A	G	16: 31,656,885 (GRCm39)	D593G	possibly damaging	Het
Dok6	A	G	18: 89,578,213 (GRCm39)	I68T	possibly damaging	Het
Dpysl5	A	G	5: 30,953,658 (GRCm39)	I563V	probably benign	Het
Eapp	A	G	12: 54,739,650 (GRCm39)	S56P	probably damaging	Het
Efcab3	T	G	11: 104,810,305 (GRCm39)	D3147E	unknown	Het
Fgd5	A	T	6: 92,038,837 (GRCm39)	D1157V	probably damaging	Het
Fmn1	T	A	2: 113,194,939 (GRCm39)	L213Q	unknown	Het
Foxo1	T	A	3: 52,253,044 (GRCm39)	Y402*	probably null	Het
Fyb2	C	A	4: 104,857,681 (GRCm39)	F619L	possibly damaging	Het
Gtf2i	A	T	5: 134,322,599 (GRCm39)		probably null	Het
Hrh1	G	A	6: 114,456,878 (GRCm39)	R53H	not run	Het
Hydin	A	T	8: 111,301,626 (GRCm39)	M3786L	probably benign	Het
Ifi207	T	C	1: 173,555,268 (GRCm39)	R805G	possibly damaging	Het
Igfn1	C	A	1: 135,895,797 (GRCm39)	G1590*	probably null	Het
Jph3	A	C	8: 122,516,201 (GRCm39)	I740L	probably benign	Het
Kbtbd7	T	A	14: 79,666,144 (GRCm39)	F659I	probably benign	Het
Kcns2	A	T	15: 34,839,291 (GRCm39)	Q218L	probably benign	Het
Kcnt2	A	G	1: 140,537,398 (GRCm39)	N1119S	probably benign	Het
Krit1	A	T	5: 3,857,309 (GRCm39)	H38L	probably benign	Het
Krt20	T	A	11: 99,328,663 (GRCm39)	R87S	probably damaging	Het
Ly6g5c	A	G	17: 35,330,808 (GRCm39)	E110G	probably damaging	Het
Mamdc4	A	G	2: 25,454,707 (GRCm39)	F1035S	probably damaging	Het
Mmp13	A	T	9: 7,280,865 (GRCm39)	D416V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,352,768 (GRCm39)	L566*	probably null	Het
Or12d17	T	C	17: 37,777,540 (GRCm39)	F148L	probably benign	Het
Or4b12	A	T	2: 90,096,488 (GRCm39)	C95*	probably null	Het
Or51ai2	T	C	7: 103,586,788 (GRCm39)	L67P	probably damaging	Het
Or5p69	T	C	7: 107,966,741 (GRCm39)	F15L	probably damaging	Het
Pcdhb19	T	C	18: 37,630,367 (GRCm39)	L54P	possibly damaging	Het
Pitpnm2	A	G	5: 124,259,519 (GRCm39)	F1272S	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Reep4	T	C	14: 70,785,627 (GRCm39)	Y186H	probably benign	Het
Rpgrip1	A	G	14: 52,356,702 (GRCm39)	T89A	possibly damaging	Het
Shc1	T	C	3: 89,330,260 (GRCm39)	S175P	probably damaging	Het
Sipa1l3	A	G	7: 29,063,645 (GRCm39)	S1156P	probably damaging	Het
Slc1a3	G	A	15: 8,665,683 (GRCm39)	P522L	probably benign	Het
Slc6a17	T	A	3: 107,381,744 (GRCm39)	T446S	probably damaging	Het
Tas1r2	A	T	4: 139,387,290 (GRCm39)	N250Y	possibly damaging	Het
Tex15	G	T	8: 34,065,874 (GRCm39)	R1768L	probably damaging	Het
Ttll9	G	C	2: 152,844,956 (GRCm39)	Q441H	possibly damaging	Het
Unc5c	T	A	3: 141,171,545 (GRCm39)	V24E	possibly damaging	Het
Unc79	A	G	12: 103,054,726 (GRCm39)	E888G	probably benign	Het
Vmn2r19	T	C	6: 123,312,750 (GRCm39)	S607P	possibly damaging	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Wdfy4	A	G	14: 32,875,965 (GRCm39)		probably null	Het
Zbtb49	T	C	5: 38,358,198 (GRCm39)	D685G	possibly damaging	Het

Other mutations in Cntnap5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Cntnap5a	APN	1	116,045,407 (GRCm39)	missense	possibly damaging	0.48
IGL00929:Cntnap5a	APN	1	115,988,004 (GRCm39)	splice site	probably null
IGL00959:Cntnap5a	APN	1	116,112,057 (GRCm39)	missense	probably benign	0.00
IGL01721:Cntnap5a	APN	1	116,085,367 (GRCm39)	missense	probably benign
IGL02009:Cntnap5a	APN	1	116,085,224 (GRCm39)	missense	probably benign	0.15
IGL02111:Cntnap5a	APN	1	116,017,082 (GRCm39)	missense	probably benign	0.00
IGL02198:Cntnap5a	APN	1	116,508,262 (GRCm39)	missense	probably benign
IGL02751:Cntnap5a	APN	1	116,112,187 (GRCm39)	critical splice donor site	probably null
IGL02752:Cntnap5a	APN	1	116,508,261 (GRCm39)	missense	probably benign	0.00
IGL02989:Cntnap5a	APN	1	116,339,813 (GRCm39)	splice site	probably benign
IGL03195:Cntnap5a	APN	1	116,085,178 (GRCm39)	missense	probably benign	0.00
PIT4142001:Cntnap5a	UTSW	1	115,612,686 (GRCm39)	start gained	probably benign
R0294:Cntnap5a	UTSW	1	115,843,046 (GRCm39)	missense	probably benign
R0377:Cntnap5a	UTSW	1	116,220,259 (GRCm39)	missense	probably benign	0.04
R0597:Cntnap5a	UTSW	1	116,112,191 (GRCm39)	splice site	probably benign
R0616:Cntnap5a	UTSW	1	116,508,279 (GRCm39)	missense	possibly damaging	0.80
R0725:Cntnap5a	UTSW	1	116,220,206 (GRCm39)	missense	probably benign	0.25
R0842:Cntnap5a	UTSW	1	116,369,953 (GRCm39)	missense	probably damaging	0.96
R1103:Cntnap5a	UTSW	1	116,508,399 (GRCm39)	missense	possibly damaging	0.81
R1265:Cntnap5a	UTSW	1	116,356,248 (GRCm39)	missense	possibly damaging	0.49
R1467:Cntnap5a	UTSW	1	115,612,898 (GRCm39)	nonsense	probably null
R1467:Cntnap5a	UTSW	1	115,612,898 (GRCm39)	nonsense	probably null
R1470:Cntnap5a	UTSW	1	116,187,249 (GRCm39)	missense	probably damaging	1.00
R1470:Cntnap5a	UTSW	1	116,187,249 (GRCm39)	missense	probably damaging	1.00
R1474:Cntnap5a	UTSW	1	116,370,103 (GRCm39)	nonsense	probably null
R1476:Cntnap5a	UTSW	1	115,828,750 (GRCm39)	missense	probably damaging	1.00
R1481:Cntnap5a	UTSW	1	116,045,393 (GRCm39)	missense	probably damaging	1.00
R1512:Cntnap5a	UTSW	1	115,828,680 (GRCm39)	missense	probably benign
R1526:Cntnap5a	UTSW	1	116,356,207 (GRCm39)	missense	probably benign
R1589:Cntnap5a	UTSW	1	115,987,930 (GRCm39)	missense	possibly damaging	0.77
R1603:Cntnap5a	UTSW	1	116,339,831 (GRCm39)	missense	possibly damaging	0.80
R1728:Cntnap5a	UTSW	1	116,382,873 (GRCm39)	missense	probably benign	0.01
R1728:Cntnap5a	UTSW	1	116,382,734 (GRCm39)	missense	probably benign	0.00
R1728:Cntnap5a	UTSW	1	116,382,831 (GRCm39)	missense	probably benign	0.00
R1729:Cntnap5a	UTSW	1	116,382,873 (GRCm39)	missense	probably benign	0.01
R1729:Cntnap5a	UTSW	1	116,382,734 (GRCm39)	missense	probably benign	0.00
R1729:Cntnap5a	UTSW	1	116,382,831 (GRCm39)	missense	probably benign	0.00
R1730:Cntnap5a	UTSW	1	116,382,873 (GRCm39)	missense	probably benign	0.01
R1730:Cntnap5a	UTSW	1	116,382,734 (GRCm39)	missense	probably benign	0.00
R1730:Cntnap5a	UTSW	1	116,382,831 (GRCm39)	missense	probably benign	0.00
R1739:Cntnap5a	UTSW	1	116,382,873 (GRCm39)	missense	probably benign	0.01
R1739:Cntnap5a	UTSW	1	116,382,734 (GRCm39)	missense	probably benign	0.00
R1739:Cntnap5a	UTSW	1	116,382,831 (GRCm39)	missense	probably benign	0.00
R1762:Cntnap5a	UTSW	1	116,382,831 (GRCm39)	missense	probably benign	0.00
R1762:Cntnap5a	UTSW	1	116,382,873 (GRCm39)	missense	probably benign	0.01
R1762:Cntnap5a	UTSW	1	116,382,734 (GRCm39)	missense	probably benign	0.00
R1783:Cntnap5a	UTSW	1	116,382,873 (GRCm39)	missense	probably benign	0.01
R1783:Cntnap5a	UTSW	1	116,382,734 (GRCm39)	missense	probably benign	0.00
R1783:Cntnap5a	UTSW	1	116,382,831 (GRCm39)	missense	probably benign	0.00
R1785:Cntnap5a	UTSW	1	116,382,734 (GRCm39)	missense	probably benign	0.00
R1785:Cntnap5a	UTSW	1	116,382,831 (GRCm39)	missense	probably benign	0.00
R1785:Cntnap5a	UTSW	1	116,382,873 (GRCm39)	missense	probably benign	0.01
R1816:Cntnap5a	UTSW	1	116,356,618 (GRCm39)	missense	probably benign	0.19
R1872:Cntnap5a	UTSW	1	116,016,940 (GRCm39)	missense	probably benign	0.02
R2095:Cntnap5a	UTSW	1	116,369,990 (GRCm39)	missense	probably damaging	1.00
R2113:Cntnap5a	UTSW	1	116,116,095 (GRCm39)	missense	probably damaging	0.98
R2144:Cntnap5a	UTSW	1	116,029,440 (GRCm39)	missense	probably benign	0.14
R2171:Cntnap5a	UTSW	1	116,116,132 (GRCm39)	missense	possibly damaging	0.95
R2219:Cntnap5a	UTSW	1	116,508,369 (GRCm39)	missense	possibly damaging	0.83
R2220:Cntnap5a	UTSW	1	116,508,369 (GRCm39)	missense	possibly damaging	0.83
R2571:Cntnap5a	UTSW	1	116,112,092 (GRCm39)	missense	probably damaging	1.00
R3019:Cntnap5a	UTSW	1	116,029,299 (GRCm39)	missense	probably benign
R3827:Cntnap5a	UTSW	1	116,045,409 (GRCm39)	missense	probably benign	0.14
R3870:Cntnap5a	UTSW	1	115,987,979 (GRCm39)	missense	probably damaging	1.00
R3871:Cntnap5a	UTSW	1	115,987,979 (GRCm39)	missense	probably damaging	1.00
R4041:Cntnap5a	UTSW	1	116,112,129 (GRCm39)	missense	probably benign	0.00
R4080:Cntnap5a	UTSW	1	116,029,304 (GRCm39)	missense	probably benign	0.01
R4260:Cntnap5a	UTSW	1	116,374,325 (GRCm39)	missense	probably benign	0.31
R4685:Cntnap5a	UTSW	1	116,374,410 (GRCm39)	missense	possibly damaging	0.69
R4781:Cntnap5a	UTSW	1	116,339,931 (GRCm39)	missense	possibly damaging	0.88
R4785:Cntnap5a	UTSW	1	116,029,295 (GRCm39)	missense	probably benign	0.00
R5057:Cntnap5a	UTSW	1	115,612,943 (GRCm39)	missense	probably benign	0.10
R5059:Cntnap5a	UTSW	1	116,356,224 (GRCm39)	missense	probably benign	0.44
R5101:Cntnap5a	UTSW	1	116,370,026 (GRCm39)	missense	probably benign	0.00
R5302:Cntnap5a	UTSW	1	116,085,300 (GRCm39)	missense	probably benign	0.15
R5451:Cntnap5a	UTSW	1	115,612,873 (GRCm39)	missense	probably benign
R5473:Cntnap5a	UTSW	1	116,016,986 (GRCm39)	missense	probably benign	0.12
R5886:Cntnap5a	UTSW	1	116,499,402 (GRCm39)	critical splice donor site	probably null
R6311:Cntnap5a	UTSW	1	116,339,836 (GRCm39)	nonsense	probably null
R6464:Cntnap5a	UTSW	1	116,112,138 (GRCm39)	missense	probably benign
R6497:Cntnap5a	UTSW	1	116,505,627 (GRCm39)	missense	probably damaging	1.00
R6781:Cntnap5a	UTSW	1	116,220,127 (GRCm39)	missense	probably benign	0.05
R7137:Cntnap5a	UTSW	1	116,017,106 (GRCm39)	missense	probably damaging	1.00
R7290:Cntnap5a	UTSW	1	116,149,619 (GRCm39)	missense	probably damaging	1.00
R7342:Cntnap5a	UTSW	1	115,987,852 (GRCm39)	missense	probably benign	0.00
R7367:Cntnap5a	UTSW	1	116,370,025 (GRCm39)	missense	probably benign	0.00
R7373:Cntnap5a	UTSW	1	116,508,367 (GRCm39)	missense	probably benign	0.20
R7426:Cntnap5a	UTSW	1	116,370,110 (GRCm39)	missense	probably benign	0.03
R7444:Cntnap5a	UTSW	1	116,220,079 (GRCm39)	missense	probably benign
R7582:Cntnap5a	UTSW	1	116,374,362 (GRCm39)	missense	probably damaging	1.00
R7745:Cntnap5a	UTSW	1	116,370,013 (GRCm39)	missense	probably benign
R7948:Cntnap5a	UTSW	1	116,508,258 (GRCm39)	missense	probably benign	0.01
R7995:Cntnap5a	UTSW	1	116,499,277 (GRCm39)	missense	probably damaging	0.99
R8262:Cntnap5a	UTSW	1	116,116,140 (GRCm39)	missense	possibly damaging	0.66
R8273:Cntnap5a	UTSW	1	116,499,271 (GRCm39)	missense	probably damaging	1.00
R8320:Cntnap5a	UTSW	1	116,374,466 (GRCm39)	missense	possibly damaging	0.62
R9242:Cntnap5a	UTSW	1	116,220,109 (GRCm39)	missense	probably benign	0.06
R9470:Cntnap5a	UTSW	1	116,374,344 (GRCm39)	missense	probably damaging	1.00
R9601:Cntnap5a	UTSW	1	116,508,217 (GRCm39)	missense	probably damaging	0.96
R9616:Cntnap5a	UTSW	1	116,029,323 (GRCm39)	missense	probably benign
R9623:Cntnap5a	UTSW	1	116,369,985 (GRCm39)	nonsense	probably null
Z1088:Cntnap5a	UTSW	1	115,987,981 (GRCm39)	missense	probably benign	0.08
Z1176:Cntnap5a	UTSW	1	116,356,246 (GRCm39)	missense	probably damaging	1.00
Z1177:Cntnap5a	UTSW	1	116,339,898 (GRCm39)	missense	probably benign	0.03
Z1188:Cntnap5a	UTSW	1	116,445,935 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GTGTAAAAGTCTGCCAAGTATCAC -3'
(R):5'- GTCCTGACCACCAAGATCTC -3'

Sequencing Primer
(F):5'- CAACACCGAGCTATAAAGTCTCTTG -3'
(R):5'- CCCCATGAAGTTGTCCTGTG -3'

Posted On

2020-01-23