Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Cntnap3'

601122

Institutional Source

Beutler Lab

Gene Symbol

Cntnap3

Ensembl Gene

ENSMUSG00000033063

Gene Name

contactin associated protein-like 3

Synonyms

MMRRC Submission

045865-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64883996-65051769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64941122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 286 (H286L)

Ref Sequence

ENSEMBL: ENSMUSP00000089140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091554]

AlphaFold

E9PY62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091554
AA Change: H286L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: H286L

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
FA58C	33	180	4.88e-17	SMART
LamG	207	345	1.47e-11	SMART
LamG	394	525	1.43e-23	SMART
EGF	553	587	1.33e-1	SMART
FBG	590	775	6.76e-1	SMART
LamG	815	942	1.89e-32	SMART
EGF_like	963	999	6.28e1	SMART
LamG	1040	1178	9.46e-15	SMART
transmembrane domain	1245	1267	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,045 (GRCm39)	E200G	probably benign	Het
Ankfy1	C	T	11: 72,645,281 (GRCm39)	Q787*	probably null	Het
Birc6	T	A	17: 74,855,815 (GRCm39)	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,539,157 (GRCm39)		probably null	Het
Cabp5	T	A	7: 13,132,263 (GRCm39)	F11I	possibly damaging	Het
Ccdc88a	T	C	11: 29,435,964 (GRCm39)	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,826,454 (GRCm39)	V1087A	probably benign	Het
Cct3	C	T	3: 88,228,442 (GRCm39)	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,457,658 (GRCm39)	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,983,546 (GRCm39)	E487G	probably damaging	Het
Chd5	A	G	4: 152,443,032 (GRCm39)	K278E	probably damaging	Het
Dnai7	T	G	6: 145,140,312 (GRCm39)	D163A	probably benign	Het
Efr3a	G	T	15: 65,659,022 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,770,851 (GRCm39)	I69N	possibly damaging	Het
Flg2	T	C	3: 93,107,548 (GRCm39)	I11T	possibly damaging	Het
Folr2	T	C	7: 101,490,102 (GRCm39)	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786 (GRCm39)	F360S	probably damaging	Het
Galr2	T	C	11: 116,173,946 (GRCm39)	V192A	probably benign	Het
Gas6	A	T	8: 13,516,809 (GRCm39)	I563N	probably damaging	Het
Gbe1	T	C	16: 70,324,085 (GRCm39)	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,619,608 (GRCm39)	H423Y	probably damaging	Het
Gm6902	T	C	7: 22,973,243 (GRCm39)	T95A	probably benign	Het
Gpr155	G	T	2: 73,212,296 (GRCm39)	A109D	probably damaging	Het
Hsdl1	T	C	8: 120,294,711 (GRCm39)	D5G	probably damaging	Het
Hyal1	C	T	9: 107,455,628 (GRCm39)	P313S	probably damaging	Het
Igfn1	G	A	1: 135,902,527 (GRCm39)	T390M	probably damaging	Het
Irx1	C	A	13: 72,107,917 (GRCm39)	R255L	probably benign	Het
Itga2	T	A	13: 115,002,715 (GRCm39)	T592S	probably benign	Het
Kit	C	A	5: 75,769,982 (GRCm39)	S131R	probably benign	Het
Map1b	T	C	13: 99,568,390 (GRCm39)	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,219,496 (GRCm39)	E112K	probably benign	Het
Marveld3	T	C	8: 110,681,266 (GRCm39)	I210V	probably damaging	Het
Masp1	T	A	16: 23,295,068 (GRCm39)	I398L	probably benign	Het
Mmrn1	T	C	6: 60,953,309 (GRCm39)	I530T	probably benign	Het
Mtss2	A	G	8: 111,452,833 (GRCm39)	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,067,747 (GRCm39)	S600R	probably benign	Het
Myo5a	A	G	9: 75,076,292 (GRCm39)	I836V	probably benign	Het
Naaladl1	A	G	19: 6,159,694 (GRCm39)	D375G	probably damaging	Het
Napepld	T	A	5: 21,888,263 (GRCm39)	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,465,483 (GRCm39)	I719S	possibly damaging	Het
Nes	T	A	3: 87,882,923 (GRCm39)	M394K	probably benign	Het
Nlrc5	A	T	8: 95,231,772 (GRCm39)	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 106,791,782 (GRCm39)	C822*	probably null	Het
Noa1	A	C	5: 77,457,071 (GRCm39)	L278R	probably damaging	Het
Nop16	A	G	13: 54,737,889 (GRCm39)		probably benign	Het
Odr4	T	C	1: 150,268,659 (GRCm39)		probably benign	Het
Or11h7	A	T	14: 50,891,450 (GRCm39)	Y252F	probably benign	Het
Or5b12	A	G	19: 12,897,229 (GRCm39)	V148A	probably benign	Het
Osbpl10	C	T	9: 114,890,962 (GRCm39)	H117Y	probably benign	Het
Oxct1	A	T	15: 4,077,058 (GRCm39)	E130D	probably benign	Het
Padi2	A	G	4: 140,676,575 (GRCm39)	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Pdcd11	G	A	19: 47,086,659 (GRCm39)	E222K	possibly damaging	Het
Pira12	C	A	7: 3,897,204 (GRCm39)	C544F	probably damaging	Het
Plekha2	A	G	8: 25,578,356 (GRCm39)		probably null	Het
Pogz	T	C	3: 94,777,418 (GRCm39)	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,138,086 (GRCm39)	I145V	probably benign	Het
Prkcd	A	G	14: 30,320,407 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,468,853 (GRCm39)	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,842,650 (GRCm39)	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,961,938 (GRCm39)	H116L	probably damaging	Het
Sdk1	A	G	5: 141,923,434 (GRCm39)	T352A	probably benign	Het
Septin9	T	A	11: 117,250,264 (GRCm39)	C529*	probably null	Het
Setx	T	A	2: 29,038,663 (GRCm39)	V1716D	probably benign	Het
Slc19a3	C	T	1: 82,997,162 (GRCm39)	V349I	probably benign	Het
Slc27a4	C	A	2: 29,695,722 (GRCm39)	R86S	probably benign	Het
Slc4a8	A	G	15: 100,696,059 (GRCm39)	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,545,884 (GRCm39)	R58G	probably damaging	Het
Sphkap	T	A	1: 83,254,021 (GRCm39)	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,996,720 (GRCm39)	S261P	unknown	Het
Tab1	A	T	15: 80,042,999 (GRCm39)	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,934,705 (GRCm39)	T35S	probably benign	Het
Tasor2	T	C	13: 3,625,714 (GRCm39)	K1412R	possibly damaging	Het
Tigd4	T	A	3: 84,502,310 (GRCm39)	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,510,501 (GRCm39)	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,733,145 (GRCm39)	C894S	unknown	Het
Topaz1	T	A	9: 122,578,250 (GRCm39)	S387T	probably benign	Het
Tsfm	T	C	10: 126,847,558 (GRCm39)	R178G	probably benign	Het
Ttll13	T	C	7: 79,902,875 (GRCm39)	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,610,896 (GRCm39)	K97N		Het
Ubr4	A	G	4: 139,142,394 (GRCm39)	E38G		Het
Ugt2b37	T	C	5: 87,402,118 (GRCm39)	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,601,020 (GRCm39)	M935I	probably benign	Het
Usp34	T	C	11: 23,362,314 (GRCm39)	S1606P		Het
Vmn1r195	T	C	13: 22,463,244 (GRCm39)	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,261,081 (GRCm39)	M419L	probably benign	Het
Washc2	G	T	6: 116,236,020 (GRCm39)	A1164S	probably benign	Het
Wdfy3	A	T	5: 102,042,940 (GRCm39)	M1937K	probably benign	Het
Wdfy3	A	T	5: 102,099,265 (GRCm39)	L261*	probably null	Het
Wdr64	A	T	1: 175,559,092 (GRCm39)	Y285F	probably benign	Het
Wtap	A	G	17: 13,199,797 (GRCm39)	L62P	probably damaging	Het
Zfp1007	A	C	5: 109,825,170 (GRCm39)	Y93*	probably null	Het
Zfp94	C	A	7: 24,002,498 (GRCm39)	V315F	probably benign	Het
Zhx1	A	T	15: 57,911,798 (GRCm39)		probably null	Het

Other mutations in Cntnap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cntnap3	APN	13	64,920,545 (GRCm39)	missense	probably damaging	1.00
IGL00782:Cntnap3	APN	13	64,893,619 (GRCm39)	splice site	probably benign
IGL00976:Cntnap3	APN	13	64,942,166 (GRCm39)	missense	probably damaging	1.00
IGL01319:Cntnap3	APN	13	64,935,651 (GRCm39)	missense	probably damaging	1.00
IGL01610:Cntnap3	APN	13	64,905,115 (GRCm39)	missense	probably damaging	0.98
IGL01861:Cntnap3	APN	13	64,946,922 (GRCm39)	missense	probably damaging	1.00
IGL02127:Cntnap3	APN	13	64,946,878 (GRCm39)	splice site	probably benign
IGL02133:Cntnap3	APN	13	64,899,487 (GRCm39)	splice site	probably benign
IGL02251:Cntnap3	APN	13	64,909,850 (GRCm39)	missense	probably damaging	1.00
IGL02272:Cntnap3	APN	13	64,905,225 (GRCm39)	missense	probably damaging	1.00
IGL02370:Cntnap3	APN	13	64,899,565 (GRCm39)	missense	probably benign
IGL02456:Cntnap3	APN	13	64,946,872 (GRCm39)	splice site	probably benign
IGL02589:Cntnap3	APN	13	64,940,244 (GRCm39)	missense	probably benign	0.08
IGL02695:Cntnap3	APN	13	64,919,946 (GRCm39)	missense	probably benign	0.01
IGL02850:Cntnap3	APN	13	64,905,223 (GRCm39)	missense	probably damaging	1.00
IGL03038:Cntnap3	APN	13	64,888,839 (GRCm39)	missense	possibly damaging	0.50
IGL03188:Cntnap3	APN	13	64,929,559 (GRCm39)	missense	probably damaging	0.97
IGL03327:Cntnap3	APN	13	65,035,582 (GRCm39)	nonsense	probably null
PIT4480001:Cntnap3	UTSW	13	64,905,024 (GRCm39)	missense	probably damaging	1.00
R0309:Cntnap3	UTSW	13	64,905,250 (GRCm39)	splice site	probably benign
R0422:Cntnap3	UTSW	13	64,905,099 (GRCm39)	missense	probably damaging	0.96
R0463:Cntnap3	UTSW	13	64,926,690 (GRCm39)	missense	probably damaging	1.00
R0491:Cntnap3	UTSW	13	64,909,859 (GRCm39)	missense	probably benign	0.01
R0499:Cntnap3	UTSW	13	65,006,492 (GRCm39)	missense	probably benign	0.33
R0550:Cntnap3	UTSW	13	64,909,814 (GRCm39)	missense	possibly damaging	0.86
R0613:Cntnap3	UTSW	13	64,906,228 (GRCm39)	missense	probably damaging	1.00
R0666:Cntnap3	UTSW	13	64,905,211 (GRCm39)	missense	probably damaging	1.00
R0840:Cntnap3	UTSW	13	64,935,724 (GRCm39)	missense	possibly damaging	0.94
R1577:Cntnap3	UTSW	13	64,906,104 (GRCm39)	missense	probably damaging	1.00
R1716:Cntnap3	UTSW	13	64,909,816 (GRCm39)	missense	probably damaging	1.00
R1732:Cntnap3	UTSW	13	64,888,626 (GRCm39)	critical splice donor site	probably null
R1739:Cntnap3	UTSW	13	64,888,406 (GRCm39)	missense	probably benign	0.17
R1905:Cntnap3	UTSW	13	65,051,578 (GRCm39)	missense	probably benign	0.04
R1988:Cntnap3	UTSW	13	64,906,204 (GRCm39)	missense	probably damaging	1.00
R2086:Cntnap3	UTSW	13	64,942,076 (GRCm39)	missense	possibly damaging	0.76
R3732:Cntnap3	UTSW	13	64,888,813 (GRCm39)	missense	possibly damaging	0.73
R3808:Cntnap3	UTSW	13	64,929,618 (GRCm39)	missense	probably damaging	0.96
R3809:Cntnap3	UTSW	13	64,929,618 (GRCm39)	missense	probably damaging	0.96
R4384:Cntnap3	UTSW	13	64,896,274 (GRCm39)	missense	probably damaging	1.00
R4433:Cntnap3	UTSW	13	64,926,667 (GRCm39)	missense	possibly damaging	0.92
R4631:Cntnap3	UTSW	13	64,926,697 (GRCm39)	missense	probably benign	0.04
R4645:Cntnap3	UTSW	13	64,926,602 (GRCm39)	critical splice donor site	probably null
R4702:Cntnap3	UTSW	13	64,926,676 (GRCm39)	missense	probably benign	0.17
R4876:Cntnap3	UTSW	13	64,935,520 (GRCm39)	missense	probably benign	0.00
R4994:Cntnap3	UTSW	13	64,909,798 (GRCm39)	missense	possibly damaging	0.55
R5043:Cntnap3	UTSW	13	64,942,162 (GRCm39)	missense	probably damaging	1.00
R5214:Cntnap3	UTSW	13	64,909,824 (GRCm39)	missense	probably damaging	1.00
R5403:Cntnap3	UTSW	13	64,909,792 (GRCm39)	missense	possibly damaging	0.90
R5571:Cntnap3	UTSW	13	65,051,572 (GRCm39)	missense	probably damaging	0.98
R5587:Cntnap3	UTSW	13	64,894,552 (GRCm39)	missense	probably damaging	1.00
R5695:Cntnap3	UTSW	13	64,935,769 (GRCm39)	missense	probably damaging	0.99
R5834:Cntnap3	UTSW	13	64,896,391 (GRCm39)	missense	probably benign	0.07
R5892:Cntnap3	UTSW	13	64,946,994 (GRCm39)	missense	probably damaging	1.00
R5950:Cntnap3	UTSW	13	64,935,583 (GRCm39)	missense	probably damaging	1.00
R6526:Cntnap3	UTSW	13	64,929,702 (GRCm39)	missense	possibly damaging	0.96
R6954:Cntnap3	UTSW	13	64,896,373 (GRCm39)	missense	probably benign	0.00
R7138:Cntnap3	UTSW	13	64,929,539 (GRCm39)	critical splice donor site	probably null
R7355:Cntnap3	UTSW	13	64,919,776 (GRCm39)	missense	probably benign
R7425:Cntnap3	UTSW	13	64,906,066 (GRCm39)	missense	probably damaging	1.00
R7521:Cntnap3	UTSW	13	64,919,815 (GRCm39)	missense	probably benign	0.22
R7719:Cntnap3	UTSW	13	64,920,591 (GRCm39)	nonsense	probably null
R7871:Cntnap3	UTSW	13	65,051,587 (GRCm39)	missense	probably benign	0.00
R8259:Cntnap3	UTSW	13	64,935,681 (GRCm39)	missense	probably damaging	0.99
R8415:Cntnap3	UTSW	13	64,886,479 (GRCm39)	missense	probably benign	0.31
R8491:Cntnap3	UTSW	13	64,933,157 (GRCm39)	missense	probably damaging	1.00
R9086:Cntnap3	UTSW	13	64,929,573 (GRCm39)	missense	probably damaging	1.00
R9087:Cntnap3	UTSW	13	64,899,532 (GRCm39)	missense	probably damaging	0.96
R9398:Cntnap3	UTSW	13	65,051,648 (GRCm39)	missense	probably benign	0.41
R9475:Cntnap3	UTSW	13	64,946,949 (GRCm39)	missense	probably damaging	1.00
R9625:Cntnap3	UTSW	13	65,006,579 (GRCm39)	missense	probably damaging	1.00
R9679:Cntnap3	UTSW	13	64,899,562 (GRCm39)	missense	probably damaging	1.00
Z1176:Cntnap3	UTSW	13	64,940,202 (GRCm39)	missense	probably damaging	0.98
Z1176:Cntnap3	UTSW	13	64,888,686 (GRCm39)	frame shift	probably null
Z1177:Cntnap3	UTSW	13	64,929,706 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGATACGTATTGGAGAAAATGGC -3'
(R):5'- GTCTTTACTTGGAATGAAAGGATGG -3'

Sequencing Primer
(F):5'- ATGTGTGTAAGCATTTGTCTCTC -3'
(R):5'- GAAACCTGCCTCCTGTTA -3'

Posted On

2019-11-26