Mutagenetix > Incidental Mutation

Incidental Mutation 'R8011:Cntn3'

616905

Institutional Source

Beutler Lab

Gene Symbol

Cntn3

Ensembl Gene

ENSMUSG00000030075

Gene Name

contactin 3

Synonyms

Pang

MMRRC Submission

046051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102140265-102541575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102414860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 29 (I29N)

Ref Sequence

ENSEMBL: ENSMUSP00000145176 (fasta)

Gene Model

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

AlphaFold

Q07409

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032159
AA Change: I29N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: I29N

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

possibly damaging
Transcript: ENSMUST00000203619
AA Change: I29N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: I29N

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	T	9: 124,056,529 (GRCm39)	E132K		Het
Acss2	T	C	2: 155,397,877 (GRCm39)	I313T	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Ankrd27	T	C	7: 35,316,306 (GRCm39)	V524A	probably benign	Het
Cacna1e	T	C	1: 154,341,568 (GRCm39)	I1209V	probably benign	Het
Col5a1	G	A	2: 27,870,533 (GRCm39)		probably benign	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Edc3	C	A	9: 57,620,659 (GRCm39)		probably benign	Het
Egflam	A	T	15: 7,276,525 (GRCm39)	M547K	possibly damaging	Het
Fgr	T	C	4: 132,725,790 (GRCm39)	Y400H	probably damaging	Het
Gaa	C	T	11: 119,163,762 (GRCm39)	P205S	probably benign	Het
Gpr6	T	A	10: 40,946,911 (GRCm39)	T224S	probably benign	Het
Hes3	T	C	4: 152,371,938 (GRCm39)		probably benign	Het
Hydin	T	C	8: 111,310,541 (GRCm39)	F4079S	probably damaging	Het
Igf2bp2	A	T	16: 21,894,849 (GRCm39)	I366N	probably damaging	Het
Kmt2c	A	G	5: 25,556,232 (GRCm39)	V1171A	probably damaging	Het
Kndc1	T	A	7: 139,490,536 (GRCm39)	F346Y	possibly damaging	Het
Lpin2	G	A	17: 71,537,370 (GRCm39)	G306R	probably benign	Het
Mok	T	C	12: 110,781,351 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,070,023 (GRCm39)	V265A	unknown	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2ah1	T	G	2: 85,653,957 (GRCm39)	L214R	possibly damaging	Het
Or4c103	G	A	2: 88,513,537 (GRCm39)	Q180*	probably null	Het
Or5j1	A	C	2: 86,879,190 (GRCm39)	L130R	probably damaging	Het
Or6b2b	A	G	1: 92,418,997 (GRCm39)	V160A	possibly damaging	Het
Parp14	G	A	16: 35,677,004 (GRCm39)	T988I	probably benign	Het
Pdk1	A	T	2: 71,705,796 (GRCm39)	Q81H	probably benign	Het
Plekha6	A	G	1: 133,191,544 (GRCm39)	T38A	probably benign	Het
Pou2f1	A	G	1: 165,722,472 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,066 (GRCm39)	D424G	probably null	Het
Rnf13	T	G	3: 57,714,491 (GRCm39)	Y183*	probably null	Het
Ryr2	A	T	13: 11,603,026 (GRCm39)		probably null	Het
Serpinb7	T	A	1: 107,362,487 (GRCm39)	S64T	possibly damaging	Het
Six2	T	C	17: 85,995,100 (GRCm39)	E94G	probably damaging	Het
Slc44a5	A	G	3: 153,953,447 (GRCm39)	I276M	possibly damaging	Het
Smco2	A	G	6: 146,769,633 (GRCm39)	Y239C	probably damaging	Het
Ssx2ip	T	C	3: 146,128,666 (GRCm39)	S148P	probably damaging	Het
Tiam2	T	C	17: 3,498,671 (GRCm39)	Y816H	possibly damaging	Het
Tnk2	C	T	16: 32,487,183 (GRCm39)	R127C	probably benign	Het
Tpd52l1	T	C	10: 31,208,913 (GRCm39)	N185S	probably benign	Het
Try5	T	C	6: 41,290,421 (GRCm39)	D21G	probably benign	Het
Vmn2r20	A	G	6: 123,373,369 (GRCm39)	V491A	possibly damaging	Het
Vps54	G	T	11: 21,225,095 (GRCm39)	R197L	probably damaging	Het
Xkr5	G	T	8: 18,998,736 (GRCm39)	Y27*	probably null	Het
Zfp1004	A	G	2: 150,034,266 (GRCm39)	S196G	possibly damaging	Het
Zfp626	T	A	7: 27,518,140 (GRCm39)	C374S	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCACAGCAAAGCTATAGCATCATG -3'
(R):5'- TGCTCTTTAACCAAGCAATGTGC -3'

Sequencing Primer
(F):5'- GCAAAGCTATAGCATCATGTATCC -3'
(R):5'- CATGGTATGTGCTGGGAA -3'

Posted On

2020-01-23