Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Cntnap5a'

596768

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5a

Ensembl Gene

ENSMUSG00000070695

Gene Name

contactin associated protein-like 5A

Synonyms

Caspr5-1

MMRRC Submission

045801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115612486-116515053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116370013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 877 (I877V)

Ref Sequence

ENSEMBL: ENSMUSP00000035732 (fasta)

Gene Model

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

AlphaFold

Q0V8T9

Predicted Effect

probably benign
Transcript: ENSMUST00000043725
AA Change: I877V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: I877V

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: 99.3%

Validation Efficiency

96% (55/57)

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
Aadac	A	C	3: 59,945,893 (GRCm39)	S188R	probably damaging	Het
Aars1	T	A	8: 111,768,289 (GRCm39)	I220N	probably damaging	Het
Abca15	A	G	7: 119,931,440 (GRCm39)	N16S	probably damaging	Het
Adck1	A	T	12: 88,423,570 (GRCm39)	M358L	probably benign	Het
Adck5	A	T	15: 76,478,748 (GRCm39)	Q345L	probably benign	Het
Adgrl2	A	G	3: 148,542,094 (GRCm39)	F876S	probably damaging	Het
Aebp2	T	A	6: 140,569,584 (GRCm39)	L55Q	unknown	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Aox3	T	C	1: 58,215,676 (GRCm39)	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,279,866 (GRCm39)	D494G	probably benign	Het
Cacna1a	C	A	8: 85,286,023 (GRCm39)	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,029,587 (GRCm39)	D151G		Het
Car8	A	G	4: 8,237,939 (GRCm39)	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,729,614 (GRCm39)	A368S	unknown	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Copa	A	T	1: 171,939,509 (GRCm39)	D582V	probably damaging	Het
Cpne2	T	G	8: 95,295,312 (GRCm39)	S466A	probably damaging	Het
Crybg2	A	G	4: 133,816,156 (GRCm39)	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,982,461 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,342,144 (GRCm39)	C2947*	probably null	Het
Exoc1	A	T	5: 76,709,359 (GRCm39)	K656*	probably null	Het
Exoc8	T	C	8: 125,622,558 (GRCm39)	N603S	probably benign	Het
Fam171a1	T	A	2: 3,226,483 (GRCm39)	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,456,988 (GRCm39)	I534K	probably damaging	Het
Fbn1	T	C	2: 125,145,115 (GRCm39)	D2708G	probably benign	Het
Fhad1	A	G	4: 141,618,250 (GRCm39)	L1392P	probably benign	Het
Fras1	A	T	5: 96,874,754 (GRCm39)	T2306S	probably benign	Het
Gdf7	G	T	12: 8,351,854 (GRCm39)	A27E	unknown	Het
Hnrnph1	A	T	11: 50,270,324 (GRCm39)	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,148,999 (GRCm39)	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,052,824 (GRCm39)	F24L	probably damaging	Het
Knl1	T	G	2: 118,902,037 (GRCm39)	L1246R	probably benign	Het
Limk2	C	T	11: 3,305,896 (GRCm39)	S191N	probably damaging	Het
Mdga2	C	A	12: 66,736,125 (GRCm39)	A368S	possibly damaging	Het
Mdga2	G	A	12: 66,736,124 (GRCm39)	A368V	probably damaging	Het
Med24	A	T	11: 98,595,793 (GRCm39)	L966Q	probably damaging	Het
Mgll	T	C	6: 88,702,770 (GRCm39)	V23A	possibly damaging	Het
Nedd1	C	T	10: 92,550,034 (GRCm39)	D84N	probably benign	Het
Obscn	A	C	11: 58,951,681 (GRCm39)	L4024R	probably damaging	Het
Or5k1b	A	T	16: 58,580,782 (GRCm39)	Y252*	probably null	Het
Pcnx2	T	C	8: 126,577,846 (GRCm39)	I944V	probably benign	Het
Pecr	T	C	1: 72,306,157 (GRCm39)		probably null	Het
Phf3	A	T	1: 30,843,305 (GRCm39)	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,266,768 (GRCm39)	A697P	probably benign	Het
Piwil2	T	A	14: 70,631,638 (GRCm39)	H602L	probably benign	Het
Pprc1	T	C	19: 46,053,781 (GRCm39)	S1104P	unknown	Het
Prkar1a	T	A	11: 109,544,673 (GRCm39)	Y21*	probably null	Het
Prl2c3	A	T	13: 12,813,186 (GRCm39)	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,214,405 (GRCm39)	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 8,198,075 (GRCm39)	L484W	probably damaging	Het
Sbno1	A	T	5: 124,530,962 (GRCm39)	S809T	probably benign	Het
Stmnd1	T	A	13: 46,453,077 (GRCm39)	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,662,535 (GRCm39)	C241*	probably null	Het
Tas2r114	A	T	6: 131,666,401 (GRCm39)	M209K	probably damaging	Het
Tchh	G	T	3: 93,352,084 (GRCm39)	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,300,622 (GRCm39)	S267P	possibly damaging	Het
Ttn	T	A	2: 76,598,144 (GRCm39)	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,332,035 (GRCm39)	T87A	probably benign	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
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'- GGCTAGTGGAGTTCAGAAATGC -3'
(R):5'- GAGAACAAAGCAATCTTGTAGGTAC -3'

Sequencing Primer
(F):5'- GGAGTTCAGAAATGCCCTCTG -3'
(R):5'- CAAAGCAATCTTGTAGGTACTTAGC -3'

Posted On

2019-11-26