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

102162655-102573101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102168933 bp (GRCm38)

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: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	probably benign	Het

Other mutations in Cntn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Cntn3	APN	6	102420262	nonsense	probably null
IGL00706:Cntn3	APN	6	102203949	missense	probably benign	0.11
IGL01071:Cntn3	APN	6	102420251	critical splice donor site	probably null
IGL01769:Cntn3	APN	6	102208184	missense	probably damaging	1.00
IGL01995:Cntn3	APN	6	102203885	missense	probably damaging	1.00
IGL02058:Cntn3	APN	6	102199360	splice site	probably benign
IGL02736:Cntn3	APN	6	102203939	missense	probably damaging	1.00
IGL02955:Cntn3	APN	6	102278301	missense	probably damaging	1.00
IGL03208:Cntn3	APN	6	102187099	missense	probably damaging	0.99
P0037:Cntn3	UTSW	6	102209274	missense	probably damaging	1.00
PIT4431001:Cntn3	UTSW	6	102464566	missense	probably benign	0.22
R0314:Cntn3	UTSW	6	102420381	missense	probably damaging	1.00
R0388:Cntn3	UTSW	6	102277316	missense	probably damaging	0.96
R0483:Cntn3	UTSW	6	102203966	missense	probably damaging	1.00
R0539:Cntn3	UTSW	6	102277217	critical splice donor site	probably null
R0543:Cntn3	UTSW	6	102269090	splice site	probably benign
R0629:Cntn3	UTSW	6	102203976	missense	probably damaging	1.00
R0691:Cntn3	UTSW	6	102168947	missense	possibly damaging	0.48
R0693:Cntn3	UTSW	6	102168947	missense	possibly damaging	0.48
R0781:Cntn3	UTSW	6	102245158	missense	probably benign	0.22
R1110:Cntn3	UTSW	6	102245158	missense	probably benign	0.22
R1144:Cntn3	UTSW	6	102242126	missense	possibly damaging	0.65
R1503:Cntn3	UTSW	6	102464565	nonsense	probably null
R1640:Cntn3	UTSW	6	102242013	missense	possibly damaging	0.82
R1681:Cntn3	UTSW	6	102170668	missense	probably damaging	1.00
R1770:Cntn3	UTSW	6	102269205	missense	possibly damaging	0.49
R1782:Cntn3	UTSW	6	102273811	missense	probably damaging	0.97
R1861:Cntn3	UTSW	6	102245071	missense	probably benign	0.11
R1930:Cntn3	UTSW	6	102242053	nonsense	probably null
R2026:Cntn3	UTSW	6	102420427	missense	probably damaging	1.00
R2152:Cntn3	UTSW	6	102206537	missense	probably damaging	1.00
R2313:Cntn3	UTSW	6	102203928	missense	probably benign
R2351:Cntn3	UTSW	6	102337383	missense	possibly damaging	0.55
R3611:Cntn3	UTSW	6	102208077	missense	possibly damaging	0.77
R4349:Cntn3	UTSW	6	102199351	missense	probably damaging	1.00
R4421:Cntn3	UTSW	6	102464547	missense	probably damaging	0.97
R4513:Cntn3	UTSW	6	102168982	missense	probably benign	0.37
R4678:Cntn3	UTSW	6	102204020	missense	probably damaging	1.00
R4702:Cntn3	UTSW	6	102165331	missense	probably benign	0.37
R4720:Cntn3	UTSW	6	102242022	missense	possibly damaging	0.65
R4879:Cntn3	UTSW	6	102267428	missense	possibly damaging	0.47
R4951:Cntn3	UTSW	6	102169025	missense	possibly damaging	0.90
R5410:Cntn3	UTSW	6	102278353	missense	probably benign	0.01
R5502:Cntn3	UTSW	6	102265334	missense	possibly damaging	0.58
R5852:Cntn3	UTSW	6	102420416	missense	probably damaging	1.00
R5903:Cntn3	UTSW	6	102242133	missense	probably benign	0.00
R6193:Cntn3	UTSW	6	102208131	missense	probably benign	0.31
R6258:Cntn3	UTSW	6	102277217	critical splice donor site	probably null
R6260:Cntn3	UTSW	6	102277217	critical splice donor site	probably null
R6350:Cntn3	UTSW	6	102170618	missense	probably damaging	1.00
R6490:Cntn3	UTSW	6	102278340	missense	probably damaging	0.99
R6993:Cntn3	UTSW	6	102278404	missense	probably damaging	0.98
R7064:Cntn3	UTSW	6	102273811	missense	probably damaging	0.97
R7085:Cntn3	UTSW	6	102165401	missense	possibly damaging	0.85
R7174:Cntn3	UTSW	6	102165344	missense	probably benign
R7208:Cntn3	UTSW	6	102278422	nonsense	probably null
R7395:Cntn3	UTSW	6	102337394	critical splice acceptor site	probably null
R7447:Cntn3	UTSW	6	102278455	nonsense	probably null
R7571:Cntn3	UTSW	6	102278403	missense	probably damaging	1.00
R7586:Cntn3	UTSW	6	102420427	missense	probably damaging	1.00
R7614:Cntn3	UTSW	6	102165376	missense	probably benign	0.17
R7697:Cntn3	UTSW	6	102208166	missense	probably damaging	1.00
R7697:Cntn3	UTSW	6	102208167	missense	probably damaging	1.00
R7849:Cntn3	UTSW	6	102265431	missense	probably benign	0.00
R8011:Cntn3	UTSW	6	102437899	missense	possibly damaging	0.93
R8013:Cntn3	UTSW	6	102199317	missense	probably benign	0.00
R8377:Cntn3	UTSW	6	102209293	missense	probably benign	0.00
R8726:Cntn3	UTSW	6	102169053	nonsense	probably null
R8770:Cntn3	UTSW	6	102277316	missense	possibly damaging	0.67
R8827:Cntn3	UTSW	6	102269133	missense	probably benign	0.01
R8947:Cntn3	UTSW	6	102437903	missense	probably damaging	1.00
R8997:Cntn3	UTSW	6	102204062	missense	probably damaging	0.98
R9055:Cntn3	UTSW	6	102267437	missense	probably benign	0.38
R9061:Cntn3	UTSW	6	102337327	missense	probably damaging	1.00
R9758:Cntn3	UTSW	6	102206550	missense	probably damaging	1.00
R9762:Cntn3	UTSW	6	102277235	missense	probably damaging	1.00
Z1088:Cntn3	UTSW	6	102420294	missense	possibly damaging	0.74
Z1176:Cntn3	UTSW	6	102437931	critical splice acceptor site	probably null
Z1177:Cntn3	UTSW	6	102337331	missense	probably benign	0.17

Posted On

2015-12-18