Mutagenetix > Incidental Mutation

Incidental Mutation 'R7373:Cntnap5a'

572196

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5a

Ensembl Gene

ENSMUSG00000070695

Gene Name

contactin associated protein-like 5A

Synonyms

Caspr5-1

MMRRC Submission

045456-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115612486-116515053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116508367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1293 (N1293I)

Ref Sequence

ENSEMBL: ENSMUSP00000035732 (fasta)

Gene Model

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

AlphaFold

Q0V8T9

Predicted Effect

probably benign
Transcript: ENSMUST00000043725
AA Change: N1293I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: N1293I

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

0.1528

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,686,262 (GRCm39)	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,675,389 (GRCm39)	T260M	possibly damaging	Het
Anks3	T	C	16: 4,773,735 (GRCm39)	Y187C	probably benign	Het
Atp2c2	A	T	8: 120,456,991 (GRCm39)	I198F	probably benign	Het
Bsn	T	C	9: 107,990,683 (GRCm39)	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,955,945 (GRCm39)	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,006,965 (GRCm39)	R594H	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cldn1	G	T	16: 26,179,606 (GRCm39)	P154T	probably damaging	Het
Cpsf4l	C	T	11: 113,590,657 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,880,136 (GRCm39)	T351A	probably benign	Het
Csmd1	T	C	8: 16,042,713 (GRCm39)	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,804,551 (GRCm39)	Q1297K	probably benign	Het
Dll3	A	G	7: 27,994,057 (GRCm39)	V460A	probably benign	Het
Dnah8	T	C	17: 30,986,939 (GRCm39)		probably null	Het
Dst	G	T	1: 34,227,472 (GRCm39)	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,809,585 (GRCm39)	M1T	probably null	Het
Fasn	A	T	11: 120,704,802 (GRCm39)	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,479,702 (GRCm39)	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,885,034 (GRCm39)	F49L	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hormad1	A	T	3: 95,483,628 (GRCm39)	T147S	probably damaging	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Itgb8	A	G	12: 119,166,210 (GRCm39)	V107A	probably benign	Het
Kat2a	C	T	11: 100,599,392 (GRCm39)	A533T	probably benign	Het
Kif20b	T	C	19: 34,913,071 (GRCm39)	L328P	probably damaging	Het
Lims1	T	C	10: 58,245,442 (GRCm39)	F157S	probably damaging	Het
Lrp2	G	T	2: 69,331,036 (GRCm39)	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 96,929,706 (GRCm39)	M43I	probably benign	Het
Lrrk2	T	C	15: 91,584,207 (GRCm39)		probably null	Het
Meox2	A	T	12: 37,158,797 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,714,838 (GRCm39)		probably null	Het
Mfsd5	T	A	15: 102,189,427 (GRCm39)	F266L	probably damaging	Het
Miga2	A	G	2: 30,272,083 (GRCm39)	T468A	probably damaging	Het
Mmel1	T	A	4: 154,973,665 (GRCm39)	L316Q	not run	Het
Ndufa9	C	A	6: 126,811,421 (GRCm39)	G232C	probably damaging	Het
Obox2	A	T	7: 15,131,145 (GRCm39)	K84*	probably null	Het
Or4f58	T	A	2: 111,851,787 (GRCm39)	R137S	probably benign	Het
Or51a39	T	A	7: 102,363,306 (GRCm39)	I105F	possibly damaging	Het
Otogl	G	T	10: 107,737,112 (GRCm39)	Q101K	probably damaging	Het
Pcnx2	C	T	8: 126,534,766 (GRCm39)	V1288M	probably damaging	Het
Pde10a	T	A	17: 9,161,824 (GRCm39)	W220R	probably benign	Het
Recql5	T	C	11: 115,819,198 (GRCm39)	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,796,602 (GRCm39)	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,599,191 (GRCm39)	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,007,035 (GRCm39)	E2K	unknown	Het
Shcbp1l	C	A	1: 153,300,986 (GRCm39)	T6K	probably benign	Het
Slc22a15	A	C	3: 101,785,213 (GRCm39)	L353R	possibly damaging	Het
Sqle	T	C	15: 59,189,658 (GRCm39)	I100T	probably benign	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tll1	A	T	8: 64,504,391 (GRCm39)	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,116,676 (GRCm39)	S118P	probably benign	Het
Tmco5	G	T	2: 116,717,226 (GRCm39)	V169L	probably benign	Het
Trpv1	A	G	11: 73,131,499 (GRCm39)	K346E	probably damaging	Het
Ttk	G	A	9: 83,736,930 (GRCm39)	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,816,406 (GRCm39)	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,487,212 (GRCm39)	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,044,948 (GRCm39)	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,645 (GRCm39)	S231T	unknown	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
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'- TTTTCCCCTACAGGCGTCATAG -3'
(R):5'- ATGTCAGTGGGTTACAGTAGC -3'

Sequencing Primer
(F):5'- CTACAGGCGTCATAGCAGTG -3'
(R):5'- GCCACAGCTATATGATCTCATGAG -3'

Posted On

2019-09-13