Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Cntn3'

183646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn3

Ensembl Gene

ENSMUSG00000030075

Gene Name

contactin 3

Synonyms

Pang

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

102140265-102541575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102180846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 783 (N783I)

Ref Sequence

ENSEMBL: ENSMUSP00000145176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032159] [ENSMUST00000203619]

AlphaFold

Q07409

Predicted Effect

probably damaging
Transcript: ENSMUST00000032159
AA Change: N783I

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

SMART Domains

Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: N783I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	1.85e-7	SMART
IG	129	217	1.82e-6	SMART
IGc2	240	304	6.8e-15	SMART
IGc2	330	393	1.74e-12	SMART
IGc2	422	486	1.53e-8	SMART
IG	506	595	5.2e-11	SMART
FN3	598	684	3.4e-13	SMART
FN3	701	787	5.36e-2	SMART
FN3	803	888	4.63e-6	SMART
FN3	903	983	1.07e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203619
AA Change: N783I

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

SMART Domains

Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: N783I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	1.85e-7	SMART
IG	129	217	1.82e-6	SMART
IGc2	240	304	6.8e-15	SMART
IGc2	330	393	1.74e-12	SMART
IGc2	422	486	1.53e-8	SMART
IG	506	595	5.2e-11	SMART
FN3	598	684	3.4e-13	SMART
FN3	701	787	5.36e-2	SMART
FN3	803	888	4.63e-6	SMART
FN3	903	983	1.07e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,401,302 (GRCm39)		probably benign	Het
AI661453	C	A	17: 47,779,442 (GRCm39)		probably benign	Het
Arhgap29	G	A	3: 121,807,977 (GRCm39)	V1052I	probably benign	Het
Arhgef17	A	G	7: 100,577,862 (GRCm39)	S1029P	probably benign	Het
Arpc5l	T	C	2: 38,898,226 (GRCm39)	S7P	probably damaging	Het
Asf1b	A	G	8: 84,682,533 (GRCm39)	I26V	probably benign	Het
Cep95	T	C	11: 106,697,197 (GRCm39)	L240P	probably damaging	Het
Cnmd	A	G	14: 79,879,508 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,440,676 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,907,607 (GRCm39)		probably null	Het
Cry2	T	C	2: 92,254,977 (GRCm39)	E126G	probably benign	Het
Cxcl15	T	C	5: 90,942,467 (GRCm39)	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,465,952 (GRCm39)	D510G	probably benign	Het
Dct	A	G	14: 118,271,655 (GRCm39)	F392L	probably damaging	Het
Dgkz	A	G	2: 91,764,395 (GRCm39)		probably benign	Het
Dhrs7b	A	G	11: 60,721,541 (GRCm39)	I2V	probably benign	Het
Efnb3	A	T	11: 69,447,730 (GRCm39)		probably null	Het
Fbf1	T	A	11: 116,041,846 (GRCm39)	R565S	probably null	Het
Gimap5	T	C	6: 48,729,727 (GRCm39)	I99T	probably damaging	Het
Gm9912	A	G	3: 148,891,085 (GRCm39)	L16P	unknown	Het
Gpr17	A	G	18: 32,080,187 (GRCm39)	L292P	probably damaging	Het
Hdac10	C	T	15: 89,011,801 (GRCm39)	V129M	probably damaging	Het
Mfap3l	A	G	8: 61,124,498 (GRCm39)	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,537,457 (GRCm39)	S86R	probably damaging	Het
Mylk3	A	G	8: 86,085,890 (GRCm39)	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567 (GRCm39)	C745S	probably damaging	Het
Nudt13	A	T	14: 20,356,385 (GRCm39)	E103D	probably damaging	Het
Or10ag59	A	G	2: 87,405,806 (GRCm39)	Y126C	probably damaging	Het
Or1e35	A	G	11: 73,798,261 (GRCm39)	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,764,687 (GRCm39)	A324S	probably benign	Het
Pofut2	T	C	10: 77,096,515 (GRCm39)	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,286,240 (GRCm39)	D821G	probably damaging	Het
Rnf10	T	A	5: 115,389,161 (GRCm39)	K273*	probably null	Het
Slc4a9	A	G	18: 36,672,828 (GRCm39)	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,751,015 (GRCm39)	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,380,883 (GRCm39)	T159S	probably benign	Het
Tom1l1	G	A	11: 90,540,687 (GRCm39)	P327S	probably damaging	Het
Trim3	A	G	7: 105,267,689 (GRCm39)		probably benign	Het
Trpm6	A	C	19: 18,807,691 (GRCm39)		probably benign	Het
Ttc13	A	C	8: 125,415,621 (GRCm39)	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,713,118 (GRCm39)	V60E	probably damaging	Het
Ung	T	A	5: 114,274,447 (GRCm39)	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294 (GRCm39)	V30A	probably damaging	Het

Other mutations in Cntn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Cntn3	APN	6	102,397,223 (GRCm39)	nonsense	probably null
IGL00706:Cntn3	APN	6	102,180,910 (GRCm39)	missense	probably benign	0.11
IGL01071:Cntn3	APN	6	102,397,212 (GRCm39)	critical splice donor site	probably null
IGL01769:Cntn3	APN	6	102,185,145 (GRCm39)	missense	probably damaging	1.00
IGL02058:Cntn3	APN	6	102,176,321 (GRCm39)	splice site	probably benign
IGL02736:Cntn3	APN	6	102,180,900 (GRCm39)	missense	probably damaging	1.00
IGL02955:Cntn3	APN	6	102,255,262 (GRCm39)	missense	probably damaging	1.00
IGL02971:Cntn3	APN	6	102,145,894 (GRCm39)	missense	probably damaging	1.00
IGL03208:Cntn3	APN	6	102,164,060 (GRCm39)	missense	probably damaging	0.99
P0037:Cntn3	UTSW	6	102,186,235 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Cntn3	UTSW	6	102,441,527 (GRCm39)	missense	probably benign	0.22
R0314:Cntn3	UTSW	6	102,397,342 (GRCm39)	missense	probably damaging	1.00
R0388:Cntn3	UTSW	6	102,254,277 (GRCm39)	missense	probably damaging	0.96
R0483:Cntn3	UTSW	6	102,180,927 (GRCm39)	missense	probably damaging	1.00
R0539:Cntn3	UTSW	6	102,254,178 (GRCm39)	critical splice donor site	probably null
R0543:Cntn3	UTSW	6	102,246,051 (GRCm39)	splice site	probably benign
R0629:Cntn3	UTSW	6	102,180,937 (GRCm39)	missense	probably damaging	1.00
R0691:Cntn3	UTSW	6	102,145,908 (GRCm39)	missense	possibly damaging	0.48
R0693:Cntn3	UTSW	6	102,145,908 (GRCm39)	missense	possibly damaging	0.48
R0781:Cntn3	UTSW	6	102,222,119 (GRCm39)	missense	probably benign	0.22
R1110:Cntn3	UTSW	6	102,222,119 (GRCm39)	missense	probably benign	0.22
R1144:Cntn3	UTSW	6	102,219,087 (GRCm39)	missense	possibly damaging	0.65
R1503:Cntn3	UTSW	6	102,441,526 (GRCm39)	nonsense	probably null
R1640:Cntn3	UTSW	6	102,218,974 (GRCm39)	missense	possibly damaging	0.82
R1681:Cntn3	UTSW	6	102,147,629 (GRCm39)	missense	probably damaging	1.00
R1770:Cntn3	UTSW	6	102,246,166 (GRCm39)	missense	possibly damaging	0.49
R1782:Cntn3	UTSW	6	102,250,772 (GRCm39)	missense	probably damaging	0.97
R1861:Cntn3	UTSW	6	102,222,032 (GRCm39)	missense	probably benign	0.11
R1930:Cntn3	UTSW	6	102,219,014 (GRCm39)	nonsense	probably null
R2026:Cntn3	UTSW	6	102,397,388 (GRCm39)	missense	probably damaging	1.00
R2152:Cntn3	UTSW	6	102,183,498 (GRCm39)	missense	probably damaging	1.00
R2313:Cntn3	UTSW	6	102,180,889 (GRCm39)	missense	probably benign
R2351:Cntn3	UTSW	6	102,314,344 (GRCm39)	missense	possibly damaging	0.55
R3611:Cntn3	UTSW	6	102,185,038 (GRCm39)	missense	possibly damaging	0.77
R4349:Cntn3	UTSW	6	102,176,312 (GRCm39)	missense	probably damaging	1.00
R4421:Cntn3	UTSW	6	102,441,508 (GRCm39)	missense	probably damaging	0.97
R4513:Cntn3	UTSW	6	102,145,943 (GRCm39)	missense	probably benign	0.37
R4678:Cntn3	UTSW	6	102,180,981 (GRCm39)	missense	probably damaging	1.00
R4702:Cntn3	UTSW	6	102,142,292 (GRCm39)	missense	probably benign	0.37
R4720:Cntn3	UTSW	6	102,218,983 (GRCm39)	missense	possibly damaging	0.65
R4879:Cntn3	UTSW	6	102,244,389 (GRCm39)	missense	possibly damaging	0.47
R4951:Cntn3	UTSW	6	102,145,986 (GRCm39)	missense	possibly damaging	0.90
R5410:Cntn3	UTSW	6	102,255,314 (GRCm39)	missense	probably benign	0.01
R5502:Cntn3	UTSW	6	102,242,295 (GRCm39)	missense	possibly damaging	0.58
R5852:Cntn3	UTSW	6	102,397,377 (GRCm39)	missense	probably damaging	1.00
R5903:Cntn3	UTSW	6	102,219,094 (GRCm39)	missense	probably benign	0.00
R6193:Cntn3	UTSW	6	102,185,092 (GRCm39)	missense	probably benign	0.31
R6258:Cntn3	UTSW	6	102,254,178 (GRCm39)	critical splice donor site	probably null
R6260:Cntn3	UTSW	6	102,254,178 (GRCm39)	critical splice donor site	probably null
R6350:Cntn3	UTSW	6	102,147,579 (GRCm39)	missense	probably damaging	1.00
R6490:Cntn3	UTSW	6	102,255,301 (GRCm39)	missense	probably damaging	0.99
R6993:Cntn3	UTSW	6	102,255,365 (GRCm39)	missense	probably damaging	0.98
R7064:Cntn3	UTSW	6	102,250,772 (GRCm39)	missense	probably damaging	0.97
R7085:Cntn3	UTSW	6	102,142,362 (GRCm39)	missense	possibly damaging	0.85
R7174:Cntn3	UTSW	6	102,142,305 (GRCm39)	missense	probably benign
R7208:Cntn3	UTSW	6	102,255,383 (GRCm39)	nonsense	probably null
R7395:Cntn3	UTSW	6	102,314,355 (GRCm39)	critical splice acceptor site	probably null
R7447:Cntn3	UTSW	6	102,255,416 (GRCm39)	nonsense	probably null
R7571:Cntn3	UTSW	6	102,255,364 (GRCm39)	missense	probably damaging	1.00
R7586:Cntn3	UTSW	6	102,397,388 (GRCm39)	missense	probably damaging	1.00
R7614:Cntn3	UTSW	6	102,142,337 (GRCm39)	missense	probably benign	0.17
R7697:Cntn3	UTSW	6	102,185,128 (GRCm39)	missense	probably damaging	1.00
R7697:Cntn3	UTSW	6	102,185,127 (GRCm39)	missense	probably damaging	1.00
R7849:Cntn3	UTSW	6	102,242,392 (GRCm39)	missense	probably benign	0.00
R8011:Cntn3	UTSW	6	102,414,860 (GRCm39)	missense	possibly damaging	0.93
R8013:Cntn3	UTSW	6	102,176,278 (GRCm39)	missense	probably benign	0.00
R8377:Cntn3	UTSW	6	102,186,254 (GRCm39)	missense	probably benign	0.00
R8726:Cntn3	UTSW	6	102,146,014 (GRCm39)	nonsense	probably null
R8770:Cntn3	UTSW	6	102,254,277 (GRCm39)	missense	possibly damaging	0.67
R8827:Cntn3	UTSW	6	102,246,094 (GRCm39)	missense	probably benign	0.01
R8947:Cntn3	UTSW	6	102,414,864 (GRCm39)	missense	probably damaging	1.00
R8997:Cntn3	UTSW	6	102,181,023 (GRCm39)	missense	probably damaging	0.98
R9055:Cntn3	UTSW	6	102,244,398 (GRCm39)	missense	probably benign	0.38
R9061:Cntn3	UTSW	6	102,314,288 (GRCm39)	missense	probably damaging	1.00
R9758:Cntn3	UTSW	6	102,183,511 (GRCm39)	missense	probably damaging	1.00
R9762:Cntn3	UTSW	6	102,254,196 (GRCm39)	missense	probably damaging	1.00
Z1088:Cntn3	UTSW	6	102,397,255 (GRCm39)	missense	possibly damaging	0.74
Z1176:Cntn3	UTSW	6	102,414,892 (GRCm39)	critical splice acceptor site	probably null
Z1177:Cntn3	UTSW	6	102,314,292 (GRCm39)	missense	probably benign	0.17

Posted On

2014-05-07