Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Cntn3'

456442

Institutional Source

Beutler Lab

Gene Symbol

Cntn3

Ensembl Gene

ENSMUSG00000030075

Gene Name

contactin 3

Synonyms

Pang

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102140265-102541575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102219094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 509 (M509L)

Ref Sequence

ENSEMBL: ENSMUSP00000145176 (fasta)

Gene Model

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

AlphaFold

Q07409

Predicted Effect

probably benign
Transcript: ENSMUST00000032159
AA Change: M509L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: M509L

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 benign
Transcript: ENSMUST00000203619
AA Change: M509L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: M509L

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

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,661 (GRCm39)	V150A	unknown	Het
Abraxas1	T	C	5: 100,965,824 (GRCm39)		probably null	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atg2b	T	C	12: 105,605,618 (GRCm39)	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,683,254 (GRCm39)	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,789,343 (GRCm39)	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760 (GRCm39)	D347G	probably damaging	Het
Baz2b	C	T	2: 59,790,233 (GRCm39)	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,896,801 (GRCm39)	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,002,837 (GRCm39)	Q745*	probably null	Het
Cep97	G	A	16: 55,739,889 (GRCm39)	S185L	probably damaging	Het
Clec4d	A	G	6: 123,244,020 (GRCm39)	H43R	probably damaging	Het
Cntrob	A	C	11: 69,200,201 (GRCm39)	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,395,514 (GRCm39)	N37I	possibly damaging	Het
Edc4	A	G	8: 106,617,219 (GRCm39)	T1029A	probably benign	Het
Fhip2b	A	T	14: 70,829,121 (GRCm39)	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,062,270 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,870,783 (GRCm39)	M1K	probably null	Het
Gle1	C	A	2: 29,830,293 (GRCm39)	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,215,386 (GRCm39)	V161A	probably damaging	Het
Hsf2	T	C	10: 57,380,819 (GRCm39)	S218P	probably benign	Het
Ipo7	T	A	7: 109,650,020 (GRCm39)	C736S	probably damaging	Het
Itpkb	G	T	1: 180,241,540 (GRCm39)	V737L	probably damaging	Het
Itpr1	T	C	6: 108,466,758 (GRCm39)		probably benign	Het
Kcnh8	G	T	17: 53,110,364 (GRCm39)	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,518,523 (GRCm39)		probably benign	Het
Kdm3a	C	A	6: 71,609,234 (GRCm39)		probably benign	Het
Kif5a	T	A	10: 127,066,447 (GRCm39)	M990L	probably benign	Het
Klf12	A	G	14: 100,260,124 (GRCm39)	S202P	probably damaging	Het
Krt81	T	G	15: 101,358,083 (GRCm39)	Q390P	probably damaging	Het
Lrig3	T	C	10: 125,844,347 (GRCm39)	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,235,612 (GRCm39)	V48D	probably damaging	Het
Mta1	C	T	12: 113,100,239 (GRCm39)	P688L	probably damaging	Het
Oas1h	T	C	5: 121,009,040 (GRCm39)	V250A	probably damaging	Het
Or10c1	A	T	17: 37,521,912 (GRCm39)	Y277*	probably null	Het
Or52z13	G	T	7: 103,247,128 (GRCm39)	G202*	probably null	Het
P2rx3	T	C	2: 84,831,071 (GRCm39)	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,333,718 (GRCm39)	I101T	possibly damaging	Het
Psme4	A	T	11: 30,791,589 (GRCm39)	N1148I	probably benign	Het
Rnf213	T	C	11: 119,312,195 (GRCm39)	L874P	probably damaging	Het
Sart3	T	C	5: 113,889,300 (GRCm39)	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,569,305 (GRCm39)		probably benign	Het
Slc9b1	C	T	3: 135,098,655 (GRCm39)		probably benign	Het
Stmn3	T	C	2: 180,950,573 (GRCm39)	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,301,389 (GRCm39)	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,386,242 (GRCm39)	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,113,993 (GRCm39)	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Unc5a	T	A	13: 55,147,503 (GRCm39)	C438S	possibly damaging	Het
Zan	C	A	5: 137,440,396 (GRCm39)	C1946F	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GGCACAGGCATCTTTAATAGAAAGG -3'
(R):5'- CCCAGGAAAATATTATGAGGTCCC -3'

Sequencing Primer
(F):5'- CTGTAAGGGCTCCATTGA -3'
(R):5'- GGTGTATTGTACACATGCCT -3'

Posted On

2017-02-15