Mutagenetix > Incidental Mutation

Incidental Mutation 'R8997:Cntn3'

684770

Institutional Source

Beutler Lab

Gene Symbol

Cntn3

Ensembl Gene

ENSMUSG00000030075

Gene Name

contactin 3

Synonyms

Pang

MMRRC Submission

068828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102140265-102541575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102181023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 724 (V724A)

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: V724A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: V724A

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: V724A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: V724A

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: 99.9%
10x: 99.3%
20x: 98.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Adra2a	T	C	19: 54,035,729 (GRCm39)	S362P	probably benign	Het
Arid1a	T	A	4: 133,421,343 (GRCm39)	N436Y	unknown	Het
Cma2	T	A	14: 56,210,201 (GRCm39)	C85S	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Dennd1a	C	T	2: 37,690,497 (GRCm39)	G868R	probably benign	Het
Disp2	C	T	2: 118,617,467 (GRCm39)	P154S	probably damaging	Het
Dlgap1	A	G	17: 70,823,528 (GRCm39)	D171G	possibly damaging	Het
Dpp4	A	C	2: 62,164,958 (GRCm39)	I697S	probably damaging	Het
Dync2h1	A	T	9: 7,129,003 (GRCm39)	D1837E	probably benign	Het
Fbxo39	T	A	11: 72,208,466 (GRCm39)	S273T	probably damaging	Het
Fgf5	A	T	5: 98,423,411 (GRCm39)	*265C	probably null	Het
Fscb	A	G	12: 64,520,758 (GRCm39)	V236A	possibly damaging	Het
Greb1l	A	T	18: 10,510,747 (GRCm39)	T614S	probably damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Il6ra	T	C	3: 89,794,418 (GRCm39)	D181G	probably damaging	Het
Inhba	T	G	13: 16,201,107 (GRCm39)	V223G	possibly damaging	Het
Kcnma1	T	C	14: 23,513,037 (GRCm39)		probably benign	Het
Kdm2b	C	A	5: 123,018,236 (GRCm39)	W1068L	probably null	Het
Mdn1	T	C	4: 32,773,275 (GRCm39)	L5485P	probably damaging	Het
Muc16	T	C	9: 18,518,763 (GRCm39)		probably benign	Het
Ncapd3	T	C	9: 26,959,577 (GRCm39)	F338L	probably damaging	Het
Negr1	T	A	3: 156,721,918 (GRCm39)	I164N	probably damaging	Het
Nek9	A	T	12: 85,367,565 (GRCm39)	C369S	probably benign	Het
Ninl	C	T	2: 150,801,816 (GRCm39)	E151K	probably damaging	Het
Nphp1	A	T	2: 127,595,982 (GRCm39)	S494R	possibly damaging	Het
Nphp4	G	A	4: 152,623,345 (GRCm39)	R673H	probably damaging	Het
Obscn	C	T	11: 58,934,629 (GRCm39)		probably benign	Het
Osbpl8	T	C	10: 111,091,575 (GRCm39)	S82P	probably benign	Het
Pcdhgb1	C	A	18: 37,814,133 (GRCm39)	P208Q	probably damaging	Het
Pik3c2b	A	G	1: 133,018,517 (GRCm39)	E988G	possibly damaging	Het
Rfc1	A	T	5: 65,433,064 (GRCm39)	M722K	probably damaging	Het
Rnf111	A	T	9: 70,383,545 (GRCm39)	N129K	probably damaging	Het
Sdccag8	C	A	1: 176,783,374 (GRCm39)	L628I	probably damaging	Het
Sgcz	G	T	8: 39,127,894 (GRCm39)	D8E	probably benign	Het
Sgip1	T	A	4: 102,790,781 (GRCm39)	F254L		Het
Shf	A	G	2: 122,187,728 (GRCm39)	L26P	probably damaging	Het
Slc39a5	G	A	10: 128,232,348 (GRCm39)	A484V	probably damaging	Het
Slco4c1	T	A	1: 96,795,672 (GRCm39)	I129F	probably damaging	Het
Tbck	A	T	3: 132,440,106 (GRCm39)		probably null	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Teddm3	A	T	16: 20,971,687 (GRCm39)	V294E	probably damaging	Het
Tent4b	T	A	8: 88,979,023 (GRCm39)	V508D	probably benign	Het
Treml1	A	T	17: 48,667,466 (GRCm39)	H117L	probably damaging	Het
Trip12	G	T	1: 84,771,596 (GRCm39)	T184N	probably benign	Het
Tuba3b	G	T	6: 145,566,954 (GRCm39)	M398I	possibly damaging	Het
Vcam1	T	C	3: 115,910,977 (GRCm39)	I474V	probably benign	Het
Wdsub1	A	C	2: 59,688,977 (GRCm39)	M415R	probably damaging	Het
Zfp14	A	T	7: 29,737,600 (GRCm39)	F462I	probably damaging	Het
Zfp846	G	A	9: 20,505,726 (GRCm39)	V529I	probably benign	Het
Zfp873	A	G	10: 81,896,990 (GRCm39)	T574A	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
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
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
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'- GTTGTCACTGGGCTAAAGGGTC -3'
(R):5'- TGCCTGTTTAAGAGCAGCTCAG -3'

Sequencing Primer
(F):5'- ACTGGGCTAAAGGGTCCTTCAC -3'
(R):5'- TCAGCTGACTGTCCCATGGTG -3'

Posted On

2021-10-11