Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115612486-116515053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116356618 bp (GRCm39)

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]

AlphaFold

Q0V8T9

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: 40,644,222 (GRCm39)	Y721*	probably null	Het
4933405L10Rik	T	A	8: 106,436,491 (GRCm39)	V220E	possibly damaging	Het
4933434E20Rik	T	C	3: 89,960,398 (GRCm39)	V13A	possibly damaging	Het
Adam1b	T	G	5: 121,639,788 (GRCm39)	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,784,028 (GRCm39)	V316A	probably benign	Het
Anks1	T	A	17: 28,205,547 (GRCm39)	D294E	probably damaging	Het
Atr	T	C	9: 95,748,747 (GRCm39)	S431P	probably benign	Het
Bfsp1	C	T	2: 143,683,599 (GRCm39)	A242T	probably benign	Het
Bptf	A	T	11: 106,951,405 (GRCm39)	V279E	probably damaging	Het
Camkk2	A	G	5: 122,872,243 (GRCm39)	L540P	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam12	T	A	7: 17,805,690 (GRCm39)		probably null	Het
Cp	T	C	3: 20,022,384 (GRCm39)		probably benign	Het
Dhx58	A	G	11: 100,593,978 (GRCm39)	V163A	probably damaging	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Disp1	T	A	1: 182,880,139 (GRCm39)	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,670,901 (GRCm39)		probably benign	Het
Eaf2	T	G	16: 36,628,371 (GRCm39)		probably benign	Het
Efna1	T	C	3: 89,183,694 (GRCm39)	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,428,211 (GRCm39)	I462T	probably benign	Het
Fam83d	G	T	2: 158,610,070 (GRCm39)	A13S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,647,086 (GRCm39)		probably null	Het
Gm14226	A	T	2: 154,867,549 (GRCm39)	D502V	probably damaging	Het
Gm5117	T	A	8: 32,228,986 (GRCm39)		noncoding transcript	Het
Gm973	A	G	1: 59,621,558 (GRCm39)	N566S	probably damaging	Het
Grm7	A	T	6: 111,472,752 (GRCm39)	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,489,585 (GRCm39)	T17I	possibly damaging	Het
Htt	C	T	5: 34,961,084 (GRCm39)	A237V	probably benign	Het
Itga6	T	C	2: 71,671,153 (GRCm39)	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Mki67	T	C	7: 135,309,116 (GRCm39)	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,286 (GRCm39)	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Odam	A	G	5: 88,037,329 (GRCm39)		probably null	Het
Or1e33	T	C	11: 73,738,025 (GRCm39)	K309E	probably benign	Het
Or2ag13	A	T	7: 106,472,695 (GRCm39)	Y252*	probably null	Het
Or4p18	T	G	2: 88,232,943 (GRCm39)	I112L	possibly damaging	Het
Or5g29	G	T	2: 85,421,269 (GRCm39)	K128N	probably benign	Het
Or5p80	T	C	7: 108,229,364 (GRCm39)	L55P	probably damaging	Het
Or8k33	A	T	2: 86,384,011 (GRCm39)	C152*	probably null	Het
Pcm1	T	A	8: 41,762,574 (GRCm39)	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,531,216 (GRCm39)	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,908,088 (GRCm39)	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,029,108 (GRCm39)	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,391,635 (GRCm39)	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,585,314 (GRCm39)	V1571I	probably benign	Het
Rfx2	C	A	17: 57,115,305 (GRCm39)	E5*	probably null	Het
Sh3tc1	C	A	5: 35,857,928 (GRCm39)		probably null	Het
Slc22a12	G	A	19: 6,592,683 (GRCm39)	Q20*	probably null	Het
Slc4a1	A	G	11: 102,242,056 (GRCm39)	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,157,565 (GRCm39)	V48I	probably damaging	Het
Spata1	G	T	3: 146,186,962 (GRCm39)	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,761,876 (GRCm39)	Q91*	probably null	Het
Stab1	T	C	14: 30,879,422 (GRCm39)	D686G	probably benign	Het
Stx8	T	A	11: 67,902,152 (GRCm39)	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,279,436 (GRCm39)	K15N	probably damaging	Het
Thbs2	C	A	17: 14,890,975 (GRCm39)	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,890,976 (GRCm39)	E1051D	probably benign	Het
Thoc2l	A	G	5: 104,665,700 (GRCm39)	D74G	probably benign	Het
Tlr2	T	C	3: 83,745,516 (GRCm39)	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,483,947 (GRCm39)	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,016 (GRCm39)	H745R	probably benign	Het
Trappc14	A	G	5: 138,258,603 (GRCm39)	V548A	possibly damaging	Het
Ube2s	T	C	7: 4,814,554 (GRCm39)	N2S	probably damaging	Het
Ulk1	A	G	5: 110,935,697 (GRCm39)	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,049,785 (GRCm39)	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,207,330 (GRCm39)	G104*	probably null	Het
Vmn2r92	A	G	17: 18,386,939 (GRCm39)	I93V	probably damaging	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zfp958	A	T	8: 4,679,147 (GRCm39)	I391F	possibly 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
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
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'- TGTCCTCCTAGTCACACAAATTACC -3'
(R):5'- ACCATGGATTTGACAGCTTCAG -3'

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

Posted On

2014-06-23