Mutagenetix > Incidental Mutation

Incidental Mutation 'R7614:Cntn3'

588767

Institutional Source

Beutler Lab

Gene Symbol

Cntn3

Ensembl Gene

ENSMUSG00000030075

Gene Name

contactin 3

Synonyms

Pang

MMRRC Submission

045682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7614 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102140265-102541575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102142337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1010 (H1010R)

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: H1010R

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: H1010R

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: H1010R

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: H1010R

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,464,429 (GRCm39)	T535A	possibly damaging	Het
Adcy9	A	T	16: 4,236,088 (GRCm39)	L441Q	probably damaging	Het
Adgrv1	A	T	13: 81,668,780 (GRCm39)	V2592E	probably damaging	Het
Ahdc1	A	G	4: 132,790,825 (GRCm39)	S689G	probably benign	Het
Ankrd24	G	A	10: 81,474,523 (GRCm39)	G229E	unknown	Het
Ankrd34c	T	A	9: 89,610,914 (GRCm39)	I476F	probably damaging	Het
Arhgef19	A	G	4: 140,984,090 (GRCm39)	H770R	possibly damaging	Het
Arhgef4	T	G	1: 34,771,316 (GRCm39)	S1208A	possibly damaging	Het
Arid1a	A	T	4: 133,418,466 (GRCm39)	M654K	unknown	Het
Atp11b	T	A	3: 35,864,259 (GRCm39)		probably null	Het
Cadps	A	G	14: 12,454,260 (GRCm38)	I1086T	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap276	T	A	3: 108,449,848 (GRCm39)	D42E	probably benign	Het
Cyp2c66	T	A	19: 39,159,472 (GRCm39)	Y308N	probably damaging	Het
Dok6	T	A	18: 89,492,067 (GRCm39)	H170L	probably damaging	Het
Eefsec	C	T	6: 88,258,576 (GRCm39)	D506N	possibly damaging	Het
Fam181a	C	T	12: 103,282,805 (GRCm39)	P237S	probably damaging	Het
Fam186b	T	C	15: 99,184,867 (GRCm39)	I19V	probably damaging	Het
Gm3285	A	T	10: 77,697,865 (GRCm39)	T5S	unknown	Het
Heg1	A	G	16: 33,547,733 (GRCm39)	E864G	probably benign	Het
Herc2	T	A	7: 55,803,023 (GRCm39)	L2124*	probably null	Het
Hexa	T	C	9: 59,469,230 (GRCm39)	S331P	probably damaging	Het
Hspb1	A	T	5: 135,917,223 (GRCm39)	D104V	probably damaging	Het
Ikzf1	A	T	11: 11,719,019 (GRCm39)	Q329L	probably damaging	Het
Kcnf1	C	A	12: 17,224,787 (GRCm39)	R478L	probably benign	Het
Kdm3a	T	C	6: 71,568,937 (GRCm39)	T1161A	possibly damaging	Het
Krtap31-2	T	C	11: 99,827,429 (GRCm39)	I87T	possibly damaging	Het
Lars2	T	C	9: 123,224,176 (GRCm39)	S116P		Het
Lrrk2	A	G	15: 91,657,061 (GRCm39)	D1785G	probably damaging	Het
Myo10	A	G	15: 25,701,709 (GRCm39)	H61R	probably benign	Het
Or10x4	T	G	1: 174,219,220 (GRCm39)	F195C	probably damaging	Het
Or9s13	A	G	1: 92,548,183 (GRCm39)	Y185C	probably damaging	Het
Pcdhb4	C	A	18: 37,442,602 (GRCm39)	H637Q	probably benign	Het
Pcsk9	T	A	4: 106,304,763 (GRCm39)	D435V	probably benign	Het
Prickle2	T	A	6: 92,402,631 (GRCm39)	Y119F	possibly damaging	Het
Prr5	A	G	15: 84,641,276 (GRCm39)	T181A	probably benign	Het
Psd	T	A	19: 46,301,877 (GRCm39)	Q903L	probably damaging	Het
Ptpn13	T	A	5: 103,649,331 (GRCm39)	S245T	probably benign	Het
Resp18	T	C	1: 75,254,882 (GRCm39)	S24G	probably damaging	Het
Slc17a4	T	C	13: 24,090,580 (GRCm39)	T89A	probably benign	Het
Slc9a9	A	G	9: 94,737,792 (GRCm39)	Y233C	probably damaging	Het
Slit1	T	A	19: 41,622,639 (GRCm39)	I707F	probably damaging	Het
Sp4	T	C	12: 118,218,174 (GRCm39)	E691G	possibly damaging	Het
Sun2	G	T	15: 79,623,225 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,912,901 (GRCm39)	T723A	not run	Het
Tcp1	T	A	17: 13,141,540 (GRCm39)	F340I	possibly damaging	Het
Tmem39b	A	T	4: 129,587,694 (GRCm39)	V39D	probably damaging	Het
Tmtc3	A	T	10: 100,286,214 (GRCm39)	Y536*	probably null	Het
Tnfrsf11a	A	T	1: 105,755,094 (GRCm39)	T389S	probably damaging	Het
Ttn	T	C	2: 76,598,873 (GRCm39)	T19347A	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,553 (GRCm39)	S182P	probably benign	Het
Vmn2r95	A	G	17: 18,660,352 (GRCm39)	T255A	probably benign	Het
Wdr59	T	C	8: 112,219,394 (GRCm39)	Y221C		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
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'- AAGGCATCTCAGATTCCTCTAAAAG -3'
(R):5'- AGGTCCAGAGCCTTAAAGACC -3'

Sequencing Primer
(F):5'- GGGGGTAACCAATTAACTT -3'
(R):5'- AAGACCTTCAAGGCTGTTGC -3'

Posted On

2019-10-24