Mutagenetix > Incidental Mutation

Incidental Mutation 'R7137:Cntnap5a'

553109

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5a

Ensembl Gene

ENSMUSG00000070695

Gene Name

contactin associated protein-like 5A

Synonyms

Caspr5-1

MMRRC Submission

045248-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7137 (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 C at 116017106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 233 (L233P)

Ref Sequence

ENSEMBL: ENSMUSP00000035732 (fasta)

Gene Model

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

AlphaFold

Q0V8T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000043725
AA Change: L233P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: L233P

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

Meta Mutation Damage Score

0.7593

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,654,944 (GRCm39)	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,173,399 (GRCm39)		probably null	Het
Adgrf5	A	G	17: 43,761,788 (GRCm39)	K1161R	probably damaging	Het
Aoc1l3	A	G	6: 48,967,083 (GRCm39)	Y677C	probably damaging	Het
Arhgap32	T	G	9: 32,063,232 (GRCm39)	D80E	probably benign	Het
Aspg	T	C	12: 112,078,632 (GRCm39)	V30A	possibly damaging	Het
Bcl2a1d	T	C	9: 88,613,531 (GRCm39)	D81G	probably damaging	Het
Cep170b	T	C	12: 112,701,601 (GRCm39)	V160A	probably benign	Het
Ces1c	T	C	8: 93,857,470 (GRCm39)	Y37C	probably benign	Het
Crem	C	A	18: 3,273,459 (GRCm39)	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,442,022 (GRCm39)	A280V	probably benign	Het
Dnah2	C	T	11: 69,382,381 (GRCm39)	G1243D	probably damaging	Het
Eif1ad19	A	T	12: 87,740,316 (GRCm39)	L81Q	possibly damaging	Het
Emcn	T	G	3: 137,109,752 (GRCm39)	N131K	probably damaging	Het
Fat3	A	T	9: 15,908,444 (GRCm39)	D2519E	probably damaging	Het
Fibin	T	A	2: 110,193,001 (GRCm39)	D47V	probably damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Gimap8	C	A	6: 48,627,187 (GRCm39)	L54I	probably damaging	Het
Gm20481	A	G	17: 35,189,071 (GRCm39)	Y27C	unknown	Het
Grin1	T	G	2: 25,203,550 (GRCm39)	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,729,197 (GRCm39)	L20P	probably damaging	Het
Insc	G	A	7: 114,410,850 (GRCm39)	V236I	probably benign	Het
Lrrk1	A	G	7: 65,935,027 (GRCm39)	F1031L	probably benign	Het
Man2a2	C	A	7: 80,009,499 (GRCm39)	R785L	probably benign	Het
Mcur1	C	A	13: 43,697,931 (GRCm39)		probably null	Het
Med12l	A	C	3: 59,165,675 (GRCm39)	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,520,115 (GRCm39)	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,234,783 (GRCm39)	I762V	probably benign	Het
Nfkbid	A	G	7: 30,125,681 (GRCm39)	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,770,989 (GRCm39)	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,400,445 (GRCm39)	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,444,472 (GRCm39)	E1093D	probably benign	Het
Plcg1	T	C	2: 160,595,846 (GRCm39)	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,494,199 (GRCm39)	L139P	probably damaging	Het
Psma1	A	G	7: 113,873,683 (GRCm39)	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,471,377 (GRCm39)	E76G	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pyy	T	G	11: 101,998,099 (GRCm39)	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,803,228 (GRCm39)	T21A	probably benign	Het
Slc25a2	T	C	18: 37,771,200 (GRCm39)	I110V	probably benign	Het
Sult1c2	A	C	17: 54,145,422 (GRCm39)	W85G	probably damaging	Het
Syt12	C	T	19: 4,503,978 (GRCm39)	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616 (GRCm39)	V1462M	probably damaging	Het
Tor1aip2	T	A	1: 155,927,722 (GRCm39)	N33K	possibly damaging	Het
Usp17lb	C	A	7: 104,490,798 (GRCm39)	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,664,612 (GRCm39)	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,015,173 (GRCm39)		probably benign	Het
Wrnip1	A	G	13: 32,986,732 (GRCm39)	D171G	probably benign	Het
Zar1	T	A	5: 72,738,159 (GRCm39)	N81I	probably damaging	Het
Zbtb45	T	C	7: 12,741,083 (GRCm39)	T392A	probably benign	Het
Zfp445	T	C	9: 122,683,843 (GRCm39)	E272G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCATGAGGAAACATGCTGATG -3'
(R):5'- TCAAGAGCAGATATCCAATGAGTGAC -3'

Sequencing Primer
(F):5'- TCTCTGCTCTCAGGATCAGATGTAG -3'
(R):5'- GCTTCAAATTCCAGCATGAGGTG -3'

Posted On

2019-05-15