Mutagenetix > Incidental Mutation

Incidental Mutation 'R3871:Cntnap5a'

276549

Institutional Source

Beutler Lab

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 #

R3871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115684756-116587323 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116060249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 170 (E170G)

Ref Sequence

ENSEMBL: ENSMUSP00000035732 (fasta)

Gene Model

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

AlphaFold

Q0V8T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000043725
AA Change: E170G

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

SMART Domains

Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: E170G

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

0.4501

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,624,753	Y225*	probably null	Het
Bard1	T	C	1: 71,074,940	K294R	probably benign	Het
Bcap29	A	T	12: 31,617,081	S194T	probably benign	Het
Ccdc40	G	A	11: 119,264,281	V1116M	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cyp2c54	T	C	19: 40,072,423	D92G	probably benign	Het
Dpp6	T	C	5: 27,469,465	F197L	probably benign	Het
Filip1l	G	T	16: 57,513,286	K147N	probably damaging	Het
Hrnr	T	A	3: 93,331,874	S3140T	unknown	Het
Igfn1	G	T	1: 135,968,836	H1331N	probably benign	Het
Kalrn	C	T	16: 34,203,856		probably null	Het
Kmt2d	TTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGC	15: 98,851,021		probably benign	Het
Mfng	A	G	15: 78,756,621	L308P	probably damaging	Het
Nt5e	C	A	9: 88,364,693	N327K	probably benign	Het
Olfr1025-ps1	T	G	2: 85,918,582		probably null	Het
Pgbd1	C	T	13: 21,434,370	R39H	possibly damaging	Het
Phactr4	T	C	4: 132,377,249	T256A	probably benign	Het
Rab24	T	C	13: 55,321,179	D63G	probably damaging	Het
Rubcnl	C	T	14: 75,040,916	P380L	probably benign	Het
Satb2	A	G	1: 56,891,220	S215P	probably damaging	Het
Serpina3b	A	T	12: 104,138,788	I408F	probably damaging	Het
Setx	A	G	2: 29,145,741	D746G	probably damaging	Het
Sf3a2	A	C	10: 80,804,693		probably benign	Het
Snx33	T	C	9: 56,926,740	N15S	probably benign	Het
Snx9	C	T	17: 5,891,781	P61L	probably benign	Het
Sult2a6	T	C	7: 14,254,776	K20E	probably benign	Het
Tas2r122	A	G	6: 132,711,580	S117P	probably benign	Het
Tmem26	G	A	10: 68,778,732	E326K	probably benign	Het
Tnpo2	T	A	8: 85,054,751	C789S	probably null	Het
Togaram1	A	C	12: 65,002,645	E1285D	probably benign	Het
Ubxn7	T	A	16: 32,381,430	S335T	possibly damaging	Het
Unc119b	G	A	5: 115,130,508	T106M	probably damaging	Het
Usp14	A	G	18: 10,002,370	S314P	possibly damaging	Het
Usp32	T	C	11: 85,081,156	D129G	probably null	Het

Other mutations in Cntnap5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Cntnap5a	APN	1	116117677	missense	possibly damaging	0.48
IGL00929:Cntnap5a	APN	1	116060274	splice site	probably null
IGL00959:Cntnap5a	APN	1	116184327	missense	probably benign	0.00
IGL01721:Cntnap5a	APN	1	116157637	missense	probably benign
IGL02009:Cntnap5a	APN	1	116157494	missense	probably benign	0.15
IGL02111:Cntnap5a	APN	1	116089352	missense	probably benign	0.00
IGL02198:Cntnap5a	APN	1	116580532	missense	probably benign
IGL02751:Cntnap5a	APN	1	116184457	critical splice donor site	probably null
IGL02752:Cntnap5a	APN	1	116580531	missense	probably benign	0.00
IGL02989:Cntnap5a	APN	1	116412083	splice site	probably benign
IGL03195:Cntnap5a	APN	1	116157448	missense	probably benign	0.00
PIT4142001:Cntnap5a	UTSW	1	115684956	start gained	probably benign
R0294:Cntnap5a	UTSW	1	115915316	missense	probably benign
R0377:Cntnap5a	UTSW	1	116292529	missense	probably benign	0.04
R0597:Cntnap5a	UTSW	1	116184461	splice site	probably benign
R0616:Cntnap5a	UTSW	1	116580549	missense	possibly damaging	0.80
R0725:Cntnap5a	UTSW	1	116292476	missense	probably benign	0.25
R0842:Cntnap5a	UTSW	1	116442223	missense	probably damaging	0.96
R1103:Cntnap5a	UTSW	1	116580669	missense	possibly damaging	0.81
R1265:Cntnap5a	UTSW	1	116428518	missense	possibly damaging	0.49
R1467:Cntnap5a	UTSW	1	115685168	nonsense	probably null
R1467:Cntnap5a	UTSW	1	115685168	nonsense	probably null
R1470:Cntnap5a	UTSW	1	116259519	missense	probably damaging	1.00
R1470:Cntnap5a	UTSW	1	116259519	missense	probably damaging	1.00
R1474:Cntnap5a	UTSW	1	116442373	nonsense	probably null
R1476:Cntnap5a	UTSW	1	115901020	missense	probably damaging	1.00
R1481:Cntnap5a	UTSW	1	116117663	missense	probably damaging	1.00
R1512:Cntnap5a	UTSW	1	115900950	missense	probably benign
R1526:Cntnap5a	UTSW	1	116428477	missense	probably benign
R1589:Cntnap5a	UTSW	1	116060200	missense	possibly damaging	0.77
R1603:Cntnap5a	UTSW	1	116412101	missense	possibly damaging	0.80
R1728:Cntnap5a	UTSW	1	116455004	missense	probably benign	0.00
R1728:Cntnap5a	UTSW	1	116455101	missense	probably benign	0.00
R1728:Cntnap5a	UTSW	1	116455143	missense	probably benign	0.01
R1729:Cntnap5a	UTSW	1	116455004	missense	probably benign	0.00
R1729:Cntnap5a	UTSW	1	116455101	missense	probably benign	0.00
R1729:Cntnap5a	UTSW	1	116455143	missense	probably benign	0.01
R1730:Cntnap5a	UTSW	1	116455004	missense	probably benign	0.00
R1730:Cntnap5a	UTSW	1	116455101	missense	probably benign	0.00
R1730:Cntnap5a	UTSW	1	116455143	missense	probably benign	0.01
R1739:Cntnap5a	UTSW	1	116455004	missense	probably benign	0.00
R1739:Cntnap5a	UTSW	1	116455101	missense	probably benign	0.00
R1739:Cntnap5a	UTSW	1	116455143	missense	probably benign	0.01
R1762:Cntnap5a	UTSW	1	116455004	missense	probably benign	0.00
R1762:Cntnap5a	UTSW	1	116455101	missense	probably benign	0.00
R1762:Cntnap5a	UTSW	1	116455143	missense	probably benign	0.01
R1783:Cntnap5a	UTSW	1	116455004	missense	probably benign	0.00
R1783:Cntnap5a	UTSW	1	116455101	missense	probably benign	0.00
R1783:Cntnap5a	UTSW	1	116455143	missense	probably benign	0.01
R1785:Cntnap5a	UTSW	1	116455004	missense	probably benign	0.00
R1785:Cntnap5a	UTSW	1	116455101	missense	probably benign	0.00
R1785:Cntnap5a	UTSW	1	116455143	missense	probably benign	0.01
R1816:Cntnap5a	UTSW	1	116428888	missense	probably benign	0.19
R1872:Cntnap5a	UTSW	1	116089210	missense	probably benign	0.02
R2095:Cntnap5a	UTSW	1	116442260	missense	probably damaging	1.00
R2113:Cntnap5a	UTSW	1	116188365	missense	probably damaging	0.98
R2144:Cntnap5a	UTSW	1	116101710	missense	probably benign	0.14
R2171:Cntnap5a	UTSW	1	116188402	missense	possibly damaging	0.95
R2219:Cntnap5a	UTSW	1	116580639	missense	possibly damaging	0.83
R2220:Cntnap5a	UTSW	1	116580639	missense	possibly damaging	0.83
R2571:Cntnap5a	UTSW	1	116184362	missense	probably damaging	1.00
R3019:Cntnap5a	UTSW	1	116101569	missense	probably benign
R3827:Cntnap5a	UTSW	1	116117679	missense	probably benign	0.14
R3870:Cntnap5a	UTSW	1	116060249	missense	probably damaging	1.00
R4041:Cntnap5a	UTSW	1	116184399	missense	probably benign	0.00
R4080:Cntnap5a	UTSW	1	116101574	missense	probably benign	0.01
R4260:Cntnap5a	UTSW	1	116446595	missense	probably benign	0.31
R4685:Cntnap5a	UTSW	1	116446680	missense	possibly damaging	0.69
R4781:Cntnap5a	UTSW	1	116412201	missense	possibly damaging	0.88
R4785:Cntnap5a	UTSW	1	116101565	missense	probably benign	0.00
R5057:Cntnap5a	UTSW	1	115685213	missense	probably benign	0.10
R5059:Cntnap5a	UTSW	1	116428494	missense	probably benign	0.44
R5101:Cntnap5a	UTSW	1	116442296	missense	probably benign	0.00
R5302:Cntnap5a	UTSW	1	116157570	missense	probably benign	0.15
R5451:Cntnap5a	UTSW	1	115685143	missense	probably benign
R5473:Cntnap5a	UTSW	1	116089256	missense	probably benign	0.12
R5886:Cntnap5a	UTSW	1	116571672	critical splice donor site	probably null
R6311:Cntnap5a	UTSW	1	116412106	nonsense	probably null
R6464:Cntnap5a	UTSW	1	116184408	missense	probably benign
R6497:Cntnap5a	UTSW	1	116577897	missense	probably damaging	1.00
R6781:Cntnap5a	UTSW	1	116292397	missense	probably benign	0.05
R7137:Cntnap5a	UTSW	1	116089376	missense	probably damaging	1.00
R7290:Cntnap5a	UTSW	1	116221889	missense	probably damaging	1.00
R7342:Cntnap5a	UTSW	1	116060122	missense	probably benign	0.00
R7367:Cntnap5a	UTSW	1	116442295	missense	probably benign	0.00
R7373:Cntnap5a	UTSW	1	116580637	missense	probably benign	0.20
R7426:Cntnap5a	UTSW	1	116442380	missense	probably benign	0.03
R7444:Cntnap5a	UTSW	1	116292349	missense	probably benign
R7582:Cntnap5a	UTSW	1	116446632	missense	probably damaging	1.00
R7745:Cntnap5a	UTSW	1	116442283	missense	probably benign
R7948:Cntnap5a	UTSW	1	116580528	missense	probably benign	0.01
R7995:Cntnap5a	UTSW	1	116571547	missense	probably damaging	0.99
R8041:Cntnap5a	UTSW	1	116259479	missense	probably damaging	0.99
R8262:Cntnap5a	UTSW	1	116188410	missense	possibly damaging	0.66
R8273:Cntnap5a	UTSW	1	116571541	missense	probably damaging	1.00
R8320:Cntnap5a	UTSW	1	116446736	missense	possibly damaging	0.62
R9242:Cntnap5a	UTSW	1	116292379	missense	probably benign	0.06
R9470:Cntnap5a	UTSW	1	116446614	missense	probably damaging	1.00
R9601:Cntnap5a	UTSW	1	116580487	missense	probably damaging	0.96
R9616:Cntnap5a	UTSW	1	116101593	missense	probably benign
R9623:Cntnap5a	UTSW	1	116442255	nonsense	probably null
Z1088:Cntnap5a	UTSW	1	116060251	missense	probably benign	0.08
Z1176:Cntnap5a	UTSW	1	116428516	missense	probably damaging	1.00
Z1177:Cntnap5a	UTSW	1	116412168	missense	probably benign	0.03
Z1188:Cntnap5a	UTSW	1	116518205	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TGGCATGGCTTGGTACTCAC -3'
(R):5'- ACTTCTCTGCTGAGGCATAGATTTTC -3'

Sequencing Primer
(F):5'- CATGGCTTGGTACTCACTGGATTTC -3'
(R):5'- AACACCTTTATGGGTCACTGGTCAG -3'

Posted On

2015-04-06