Mutagenetix > Incidental Mutations

Incidental Mutation 'R1816:Cntnap5a'

204387

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5a

Ensembl Gene

ENSMUSG00000070695

Gene Name

contactin associated protein-like 5A

Synonyms

Caspr5-1

MMRRC Submission

039844-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115684756-116587323 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116428888 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 823 (A823S)

Ref Sequence

ENSEMBL: ENSMUSP00000035732 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043725
AA Change: A823S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: A823S

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

0.0949

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.9%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,994,798	Y721*	probably null	Het
4933405L10Rik	T	A	8: 105,709,859	V220E	possibly damaging	Het
4933434E20Rik	T	C	3: 90,053,091	V13A	possibly damaging	Het
Adam1b	T	G	5: 121,501,725	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,734,028	V316A	probably benign	Het
Anks1	T	A	17: 27,986,573	D294E	probably damaging	Het
Atr	T	C	9: 95,866,694	S431P	probably benign	Het
BC005561	A	G	5: 104,517,834	D74G	probably benign	Het
BC037034	A	G	5: 138,260,341	V548A	possibly damaging	Het
Bfsp1	C	T	2: 143,841,679	A242T	probably benign	Het
Bptf	A	T	11: 107,060,579	V279E	probably damaging	Het
Camkk2	A	G	5: 122,734,180	L540P	probably damaging	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Ceacam12	T	A	7: 18,071,765		probably null	Het
Cp	T	C	3: 19,968,220		probably benign	Het
Dhx58	A	G	11: 100,703,152	V163A	probably damaging	Het
Dicer1	T	C	12: 104,722,151	E389G	probably damaging	Het
Disp1	T	A	1: 183,098,575	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,631,742		probably benign	Het
Eaf2	T	G	16: 36,808,009		probably benign	Het
Efna1	T	C	3: 89,276,387	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,634,562	I462T	probably benign	Het
Fam83d	G	T	2: 158,768,150	A13S	possibly damaging	Het
Fer1l4	C	T	2: 156,035,199	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,826,724		probably null	Het
Gm14226	A	T	2: 155,025,629	D502V	probably damaging	Het
Gm5117	T	A	8: 31,738,958		noncoding transcript	Het
Gm973	A	G	1: 59,582,399	N566S	probably damaging	Het
Grm7	A	T	6: 111,495,791	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,840,378	T17I	possibly damaging	Het
Htt	C	T	5: 34,803,740	A237V	probably benign	Het
Itga6	T	C	2: 71,840,809	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977	R45S	probably benign	Het
Mki67	T	C	7: 135,707,387	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,200	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nudt12	G	A	17: 59,010,136	P172L	probably damaging	Het
Odam	A	G	5: 87,889,470		probably null	Het
Olfr1080	A	T	2: 86,553,667	C152*	probably null	Het
Olfr1179	T	G	2: 88,402,599	I112L	possibly damaging	Het
Olfr393	T	C	11: 73,847,199	K309E	probably benign	Het
Olfr508	T	C	7: 108,630,157	L55P	probably damaging	Het
Olfr695	A	T	7: 106,873,488	Y252*	probably null	Het
Olfr998	G	T	2: 85,590,925	K128N	probably benign	Het
Pcm1	T	A	8: 41,309,537	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,492,057	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,750,746	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,101,370	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,528,239	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,694,488	V1571I	probably benign	Het
Rfx2	C	A	17: 56,808,305	E5*	probably null	Het
Sh3tc1	C	A	5: 35,700,584		probably null	Het
Slc22a12	G	A	19: 6,542,653	Q20*	probably null	Het
Slc4a1	A	G	11: 102,351,230	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,207,565	V48I	probably damaging	Het
Spata1	G	T	3: 146,481,207	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,925,971	Q91*	probably null	Het
Stab1	T	C	14: 31,157,465	D686G	probably benign	Het
Stx8	T	A	11: 68,011,326	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,209,212	K15N	probably damaging	Het
Thbs2	C	A	17: 14,670,713	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,670,714	E1051D	probably benign	Het
Tlr2	T	C	3: 83,838,209	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,565,710	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,017	H745R	probably benign	Het
Ube2s	T	C	7: 4,811,555	N2S	probably damaging	Het
Ulk1	A	G	5: 110,787,831	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,072,803	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,230,371	G104*	probably null	Het
Vmn2r92	A	G	17: 18,166,677	I93V	probably damaging	Het
Zdhhc20	A	T	14: 57,890,143	V13E	probably benign	Het
Zfp958	A	T	8: 4,629,147	I391F	possibly damaging	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
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
R3871: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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTCCTAGTCACACAAATTACC -3'
(R):5'- ACCATGGATTTGACAGCTTCAG -3'

Sequencing Primer
(F):5'- AAATTACCCACAATCCCTTTGC -3'
(R):5'- GACAGCTTCAGTGATAATTTTCCTG -3'

Posted On

2014-06-23