Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Cntn3'

365822

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 #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

102140265-102541575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102145894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 982 (D982E)

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: D982E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: D982E

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: D982E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: D982E

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

noncoding transcript
Transcript: ENSMUST00000204990

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 103,953,564 (GRCm39)	T130I	probably benign	Het
Ahi1	T	C	10: 20,876,450 (GRCm39)	L787P	possibly damaging	Het
Atf3	A	G	1: 190,909,640 (GRCm39)	S10P	probably benign	Het
Cdr2l	A	G	11: 115,281,726 (GRCm39)	N77S	probably damaging	Het
Cnp	A	G	11: 100,467,525 (GRCm39)	D156G	probably benign	Het
Col22a1	A	G	15: 71,878,587 (GRCm39)	L190S	probably damaging	Het
Csmd3	C	T	15: 47,777,325 (GRCm39)		probably benign	Het
Dnah5	A	G	15: 28,384,607 (GRCm39)	D3117G	probably damaging	Het
Dock5	T	C	14: 67,994,558 (GRCm39)	E1834G	probably null	Het
Eea1	A	G	10: 95,877,389 (GRCm39)	T1368A	probably benign	Het
Fam83f	T	C	15: 80,556,350 (GRCm39)	V78A	probably benign	Het
Fcgbp	G	A	7: 27,800,898 (GRCm39)	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,198,671 (GRCm39)	Y364*	probably null	Het
Gm21976	G	A	13: 98,439,057 (GRCm39)	G16R	probably null	Het
Guca2b	A	G	4: 119,514,885 (GRCm39)	S59P	probably damaging	Het
Hars2	A	G	18: 36,919,231 (GRCm39)	E123G	probably damaging	Het
Hdac2	A	T	10: 36,876,370 (GRCm39)	K462*	probably null	Het
Huwe1	T	A	X: 150,710,622 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 87,997,611 (GRCm39)	N262K	probably benign	Het
Kat6b	A	G	14: 21,719,826 (GRCm39)	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,134,279 (GRCm39)	D328E	probably benign	Het
Naca	C	T	10: 127,877,437 (GRCm39)		probably benign	Het
Npffr1	T	C	10: 61,449,918 (GRCm39)	V64A	probably damaging	Het
Oga	A	G	19: 45,750,682 (GRCm39)	F671S	probably damaging	Het
Or2t49	A	G	11: 58,393,211 (GRCm39)	L57P	probably damaging	Het
Or8b3b	T	A	9: 38,584,564 (GRCm39)	M72L	probably damaging	Het
Pcca	A	G	14: 123,126,945 (GRCm39)	D718G	probably damaging	Het
Pde6a	A	C	18: 61,397,326 (GRCm39)	D670A	probably damaging	Het
Pramel7	T	A	2: 87,320,417 (GRCm39)	E292V	probably benign	Het
Prmt9	A	C	8: 78,291,698 (GRCm39)	M357L	probably benign	Het
Ptgfr	A	T	3: 151,540,963 (GRCm39)	S182T	probably benign	Het
Rtraf	A	T	14: 19,866,260 (GRCm39)	M152K	possibly damaging	Het
Satb1	T	C	17: 52,049,717 (GRCm39)	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 34,115,453 (GRCm39)		probably null	Het
Slc5a9	T	C	4: 111,747,497 (GRCm39)	I297V	possibly damaging	Het
Slf1	T	A	13: 77,195,223 (GRCm39)		probably benign	Het
St8sia2	C	T	7: 73,616,559 (GRCm39)	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,666,243 (GRCm39)	M262V	probably benign	Het
Tmem147	A	G	7: 30,428,847 (GRCm39)		probably benign	Het
Tmem220	A	G	11: 66,924,933 (GRCm39)		probably null	Het
Uspl1	A	G	5: 149,125,156 (GRCm39)	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,759 (GRCm39)	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 123,037,591 (GRCm39)	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,189,945 (GRCm39)	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,519,940 (GRCm39)	M57K	probably benign	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
IGL01995:Cntn3	APN	6	102,180,846 (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
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

2015-12-18