Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00959:Cntnap5a'

26717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntnap5a

Ensembl Gene

ENSMUSG00000070695

Gene Name

contactin associated protein-like 5A

Synonyms

Caspr5-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00959

Quality Score

Status

Chromosome

Chromosomal Location

115612486-116515053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116112057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 449 (L449Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035732 (fasta)

Gene Model

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

AlphaFold

Q0V8T9

Predicted Effect

probably benign
Transcript: ENSMUST00000043725
AA Change: L449Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: L449Q

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	A	T	11: 69,057,069 (GRCm39)	H430L	probably damaging	Het
Aox4	G	T	1: 58,278,333 (GRCm39)	V443F	probably damaging	Het
Bmpr2	A	T	1: 59,854,474 (GRCm39)	I108F	possibly damaging	Het
Cflar	G	A	1: 58,768,321 (GRCm39)		probably null	Het
Chchd3	A	G	6: 32,945,188 (GRCm39)	V106A	probably benign	Het
Chl1	G	T	6: 103,686,211 (GRCm39)		probably null	Het
Clvs2	C	T	10: 33,404,459 (GRCm39)	M252I	probably benign	Het
Col6a2	T	A	10: 76,450,368 (GRCm39)	I188F	probably damaging	Het
Cyp2c55	A	G	19: 39,026,587 (GRCm39)	D398G	probably benign	Het
Dennd1b	T	C	1: 139,071,626 (GRCm39)		probably benign	Het
Dop1a	T	A	9: 86,369,484 (GRCm39)	Y106N	probably damaging	Het
Dpy19l1	A	T	9: 24,334,493 (GRCm39)		probably null	Het
Extl3	C	T	14: 65,314,361 (GRCm39)	V274I	probably benign	Het
Fras1	G	A	5: 96,929,140 (GRCm39)	R3848H	probably damaging	Het
Gm11437	A	C	11: 84,039,448 (GRCm39)		probably benign	Het
Gss	T	A	2: 155,423,871 (GRCm39)	D2V	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ilvbl	G	A	10: 78,419,739 (GRCm39)	D548N	probably damaging	Het
Jmjd6	A	T	11: 116,733,202 (GRCm39)	D115E	possibly damaging	Het
Kidins220	T	A	12: 25,101,132 (GRCm39)	S1110R	possibly damaging	Het
Kmt2c	T	A	5: 25,481,227 (GRCm39)	I4784F	probably damaging	Het
Mrpl52	T	C	14: 54,664,494 (GRCm39)	V11A	possibly damaging	Het
Myo3b	A	G	2: 70,144,636 (GRCm39)	Y1036C	probably damaging	Het
Omp	T	C	7: 97,794,357 (GRCm39)	D90G	probably damaging	Het
Or6c2b	T	A	10: 128,947,893 (GRCm39)	M134L	probably benign	Het
Osmr	T	C	15: 6,854,086 (GRCm39)	I541V	probably benign	Het
Ppp2r1a	A	T	17: 21,181,840 (GRCm39)		probably benign	Het
Ptpn13	T	A	5: 103,665,437 (GRCm39)		probably null	Het
Rock2	C	A	12: 17,028,056 (GRCm39)	N1429K	probably benign	Het
Saxo4	A	T	19: 10,454,887 (GRCm39)		probably null	Het
Slc25a20	T	G	9: 108,559,198 (GRCm39)	M188R	possibly damaging	Het
Slc28a1	T	C	7: 80,818,816 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,988,634 (GRCm39)	Y42C	probably damaging	Het
Tgfb2	A	G	1: 186,436,784 (GRCm39)	V63A	probably benign	Het
Ugt2b38	A	T	5: 87,559,682 (GRCm39)	N403K	probably damaging	Het
Vmn2r29	A	G	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Wnt5a	C	T	14: 28,244,866 (GRCm39)	T351M	probably 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
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
R8041:Cntnap5a	UTSW	1	116,187,209 (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

Posted On

2013-04-17