Mutagenetix > Incidental Mutation

Incidental Mutation 'R7152:Cntnap1'

554216

Institutional Source

Beutler Lab

Gene Symbol

Cntnap1

Ensembl Gene

ENSMUSG00000017167

Gene Name

contactin associated protein-like 1

Synonyms

Nrxn4, NCP1, Caspr, paranodin, p190, shm

MMRRC Submission

045254-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R7152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101065429-101081550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101068152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 55 (R55W)

Ref Sequence

ENSEMBL: ENSMUSP00000099398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062759] [ENSMUST00000103109]

AlphaFold

O54991

Predicted Effect

probably benign
Transcript: ENSMUST00000062759

SMART Domains

Protein: ENSMUSP00000062588
Gene: ENSMUSG00000044052

Domain	Start	End	E-Value	Type
Pfam:7tm_1	58	310	4.8e-43	PFAM
low complexity region	313	329	N/A	INTRINSIC
low complexity region	336	349	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103109
AA Change: R55W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: R55W

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
FA58C	25	169	7.49e-36	SMART
LamG	196	333	2.86e-32	SMART
LamG	382	516	3.49e-27	SMART
EGF	544	578	2.28e0	SMART
Blast:FBG	580	777	1e-133	BLAST
LamG	806	940	1.95e-25	SMART
EGF_like	961	997	6.03e1	SMART
low complexity region	1032	1044	N/A	INTRINSIC
low complexity region	1047	1058	N/A	INTRINSIC
low complexity region	1063	1078	N/A	INTRINSIC
LamG	1081	1219	2.59e-30	SMART
4.1m	1305	1323	7.85e-7	SMART
low complexity region	1333	1370	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btnl10	A	G	11: 58,813,223 (GRCm39)	N284S	probably benign	Het
Casz1	C	G	4: 148,985,748 (GRCm39)		probably benign	Het
Cdkn2c	A	T	4: 109,522,235 (GRCm39)	F37I	probably damaging	Het
Cdyl2	T	C	8: 117,351,066 (GRCm39)	K22E	probably damaging	Het
Cers1	T	C	8: 70,770,901 (GRCm39)	W104R	probably damaging	Het
Cgrrf1	T	A	14: 47,090,934 (GRCm39)	Y223*	probably null	Het
Cited2	C	A	10: 17,600,134 (GRCm39)	N147K	probably benign	Het
Clip2	A	T	5: 134,525,095 (GRCm39)	L904Q	probably damaging	Het
Cntln	T	C	4: 84,802,937 (GRCm39)	V79A	possibly damaging	Het
Cspg4b	T	C	13: 113,455,384 (GRCm39)	F477L		Het
Ctnna2	T	A	6: 76,957,807 (GRCm39)	T481S	possibly damaging	Het
Ddx17	T	C	15: 79,414,464 (GRCm39)	T570A	possibly damaging	Het
Epha7	A	G	4: 28,935,826 (GRCm39)	K483E	possibly damaging	Het
Eps8l2	A	T	7: 140,935,678 (GRCm39)	I150F	possibly damaging	Het
Esyt1	A	G	10: 128,351,629 (GRCm39)	S827P	possibly damaging	Het
Fbxl13	T	A	5: 21,787,065 (GRCm39)	I291F	possibly damaging	Het
Foxd3	A	C	4: 99,545,562 (GRCm39)	H234P	probably benign	Het
Ggta1	T	A	2: 35,292,711 (GRCm39)	M199L	probably benign	Het
H3c13	A	G	3: 96,176,254 (GRCm39)	D82G	probably benign	Het
Ighv5-15	T	C	12: 113,790,317 (GRCm39)	E101G	probably benign	Het
Igkv8-18	T	C	6: 70,333,205 (GRCm39)	L49P	probably damaging	Het
Itpr1	T	C	6: 108,371,368 (GRCm39)		probably null	Het
Klhl36	C	T	8: 120,596,953 (GRCm39)	T218M	probably benign	Het
Ltn1	A	G	16: 87,224,529 (GRCm39)	F65S	probably damaging	Het
Marchf3	A	G	18: 56,909,053 (GRCm39)	V244A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ndst3	T	A	3: 123,346,305 (GRCm39)	I642F	possibly damaging	Het
Neb	T	C	2: 52,153,557 (GRCm39)	D2456G	probably damaging	Het
Nphp1	A	G	2: 127,595,899 (GRCm39)	M522T	probably benign	Het
Or51k1	T	A	7: 103,661,226 (GRCm39)	M228L	probably benign	Het
Or8k33	C	T	2: 86,383,673 (GRCm39)	S265N	probably benign	Het
Pam	T	A	1: 97,813,465 (GRCm39)	M322L	probably damaging	Het
Pcdhgb1	C	A	18: 37,814,854 (GRCm39)	H448Q	probably benign	Het
Pcnt	T	C	10: 76,247,194 (GRCm39)		probably null	Het
Pgm3	A	T	9: 86,449,593 (GRCm39)	D142E	probably benign	Het
Pomgnt2	C	T	9: 121,812,589 (GRCm39)	G64D	probably damaging	Het
Sds	A	T	5: 120,619,716 (GRCm39)		probably null	Het
Sirpb1b	G	T	3: 15,607,230 (GRCm39)	Q351K	probably benign	Het
Slc2a12	T	A	10: 22,541,453 (GRCm39)	M436K	probably benign	Het
Slc9a5	G	A	8: 106,095,025 (GRCm39)	G872D	probably benign	Het
Stxbp2	T	G	8: 3,682,583 (GRCm39)	S57R	probably benign	Het
Sult2a6	T	A	7: 13,956,445 (GRCm39)	D272V	probably benign	Het
Supt5	A	G	7: 28,023,325 (GRCm39)	M318T	probably benign	Het
Tdpoz3	T	C	3: 93,733,772 (GRCm39)	V149A	probably damaging	Het
Tead2	T	A	7: 44,869,871 (GRCm39)	S124T	possibly damaging	Het
Tssc4	T	A	7: 142,624,139 (GRCm39)	V149D	probably damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Uspl1	A	G	5: 149,124,588 (GRCm39)	T2A	possibly damaging	Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn1r37	T	C	6: 66,708,883 (GRCm39)	Y170H	probably benign	Het
Vnn3	T	A	10: 23,727,513 (GRCm39)	V11E	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfhx3	T	C	8: 109,674,839 (GRCm39)	V1963A	possibly damaging	Het
Zfp324	C	A	7: 12,700,198 (GRCm39)	A19E	probably benign	Het
Zfyve26	T	C	12: 79,325,888 (GRCm39)	S784G	probably benign	Het

Other mutations in Cntnap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Cntnap1	APN	11	101,075,918 (GRCm39)	missense	possibly damaging	0.63
IGL00715:Cntnap1	APN	11	101,074,031 (GRCm39)	splice site	probably benign
IGL00792:Cntnap1	APN	11	101,069,792 (GRCm39)	missense	probably benign	0.19
IGL01063:Cntnap1	APN	11	101,072,614 (GRCm39)	missense	probably benign	0.00
IGL01141:Cntnap1	APN	11	101,069,633 (GRCm39)	splice site	probably benign
IGL02184:Cntnap1	APN	11	101,069,191 (GRCm39)	missense	probably damaging	0.98
IGL02272:Cntnap1	APN	11	101,069,142 (GRCm39)	missense	probably damaging	0.99
IGL02281:Cntnap1	APN	11	101,073,080 (GRCm39)	missense	possibly damaging	0.86
IGL02437:Cntnap1	APN	11	101,077,677 (GRCm39)	missense	probably damaging	1.00
IGL02456:Cntnap1	APN	11	101,068,955 (GRCm39)	missense	probably benign	0.31
IGL02966:Cntnap1	APN	11	101,075,575 (GRCm39)	missense	probably damaging	1.00
IGL03126:Cntnap1	APN	11	101,067,127 (GRCm39)	missense	probably benign	0.00
IGL03294:Cntnap1	APN	11	101,072,508 (GRCm39)	missense	possibly damaging	0.94
Penny	UTSW	11	101,077,590 (GRCm39)	missense	probably damaging	0.99
FR4304:Cntnap1	UTSW	11	101,080,415 (GRCm39)	unclassified	probably benign
FR4304:Cntnap1	UTSW	11	101,080,407 (GRCm39)	unclassified	probably benign
FR4342:Cntnap1	UTSW	11	101,080,401 (GRCm39)	unclassified	probably benign
FR4449:Cntnap1	UTSW	11	101,080,419 (GRCm39)	unclassified	probably benign
FR4449:Cntnap1	UTSW	11	101,080,395 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,419 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,405 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,398 (GRCm39)	unclassified	probably benign
FR4548:Cntnap1	UTSW	11	101,080,420 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,401 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,392 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,407 (GRCm39)	unclassified	probably benign
FR4589:Cntnap1	UTSW	11	101,080,406 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,416 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,395 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,402 (GRCm39)	unclassified	probably benign
FR4737:Cntnap1	UTSW	11	101,080,408 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,414 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,395 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,398 (GRCm39)	unclassified	probably benign
FR4976:Cntnap1	UTSW	11	101,080,411 (GRCm39)	unclassified	probably benign
PIT4354001:Cntnap1	UTSW	11	101,072,123 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Cntnap1	UTSW	11	101,068,131 (GRCm39)	missense	probably benign
R0329:Cntnap1	UTSW	11	101,079,135 (GRCm39)	missense	probably damaging	1.00
R0556:Cntnap1	UTSW	11	101,074,822 (GRCm39)	missense	probably benign
R0586:Cntnap1	UTSW	11	101,077,840 (GRCm39)	missense	probably damaging	0.97
R0635:Cntnap1	UTSW	11	101,074,285 (GRCm39)	missense	probably benign	0.05
R0789:Cntnap1	UTSW	11	101,072,210 (GRCm39)	splice site	probably benign
R1016:Cntnap1	UTSW	11	101,068,333 (GRCm39)	missense	probably damaging	0.99
R1085:Cntnap1	UTSW	11	101,069,662 (GRCm39)	missense	probably benign	0.02
R1211:Cntnap1	UTSW	11	101,075,536 (GRCm39)	missense	probably damaging	1.00
R1466:Cntnap1	UTSW	11	101,071,186 (GRCm39)	missense	probably damaging	1.00
R1466:Cntnap1	UTSW	11	101,071,186 (GRCm39)	missense	probably damaging	1.00
R1584:Cntnap1	UTSW	11	101,071,186 (GRCm39)	missense	probably damaging	1.00
R1689:Cntnap1	UTSW	11	101,079,699 (GRCm39)	splice site	probably null
R1758:Cntnap1	UTSW	11	101,075,449 (GRCm39)	missense	probably damaging	1.00
R1779:Cntnap1	UTSW	11	101,077,337 (GRCm39)	missense	probably damaging	0.99
R1964:Cntnap1	UTSW	11	101,068,850 (GRCm39)	nonsense	probably null
R1966:Cntnap1	UTSW	11	101,071,212 (GRCm39)	missense	possibly damaging	0.89
R2070:Cntnap1	UTSW	11	101,073,805 (GRCm39)	missense	probably damaging	1.00
R2088:Cntnap1	UTSW	11	101,073,373 (GRCm39)	missense	probably damaging	1.00
R2118:Cntnap1	UTSW	11	101,079,483 (GRCm39)	missense	probably benign
R3795:Cntnap1	UTSW	11	101,077,590 (GRCm39)	missense	probably damaging	0.99
R4375:Cntnap1	UTSW	11	101,073,079 (GRCm39)	missense	probably damaging	1.00
R4779:Cntnap1	UTSW	11	101,068,898 (GRCm39)	missense	possibly damaging	0.91
R4832:Cntnap1	UTSW	11	101,073,845 (GRCm39)	missense	probably damaging	1.00
R4965:Cntnap1	UTSW	11	101,068,251 (GRCm39)	missense	possibly damaging	0.52
R4981:Cntnap1	UTSW	11	101,067,159 (GRCm39)	splice site	probably null
R5008:Cntnap1	UTSW	11	101,079,567 (GRCm39)	nonsense	probably null
R5399:Cntnap1	UTSW	11	101,074,142 (GRCm39)	missense	probably benign
R5507:Cntnap1	UTSW	11	101,074,303 (GRCm39)	missense	probably benign	0.42
R5560:Cntnap1	UTSW	11	101,073,261 (GRCm39)	missense	probably damaging	1.00
R5589:Cntnap1	UTSW	11	101,075,944 (GRCm39)	missense	probably benign
R6038:Cntnap1	UTSW	11	101,075,462 (GRCm39)	missense	probably benign	0.12
R6038:Cntnap1	UTSW	11	101,075,462 (GRCm39)	missense	probably benign	0.12
R6242:Cntnap1	UTSW	11	101,073,364 (GRCm39)	missense	probably damaging	1.00
R6306:Cntnap1	UTSW	11	101,075,441 (GRCm39)	missense	probably damaging	1.00
R6392:Cntnap1	UTSW	11	101,077,472 (GRCm39)	missense	probably damaging	1.00
R6803:Cntnap1	UTSW	11	101,068,060 (GRCm39)	missense	possibly damaging	0.81
R6939:Cntnap1	UTSW	11	101,077,337 (GRCm39)	missense	probably damaging	0.99
R6944:Cntnap1	UTSW	11	101,073,730 (GRCm39)	missense	probably damaging	0.97
R7297:Cntnap1	UTSW	11	101,079,460 (GRCm39)	missense	probably benign	0.01
R7347:Cntnap1	UTSW	11	101,076,094 (GRCm39)	missense	probably damaging	1.00
R7961:Cntnap1	UTSW	11	101,069,121 (GRCm39)	missense	probably benign
R7980:Cntnap1	UTSW	11	101,079,719 (GRCm39)	missense	probably benign
R8307:Cntnap1	UTSW	11	101,079,702 (GRCm39)	missense	possibly damaging	0.73
R8386:Cntnap1	UTSW	11	101,073,029 (GRCm39)	missense	probably damaging	1.00
R8403:Cntnap1	UTSW	11	101,068,416 (GRCm39)	missense	probably damaging	1.00
R8826:Cntnap1	UTSW	11	101,077,655 (GRCm39)	missense	probably damaging	0.99
R9103:Cntnap1	UTSW	11	101,072,094 (GRCm39)	missense	probably benign	0.06
R9279:Cntnap1	UTSW	11	101,072,121 (GRCm39)	missense	probably damaging	0.99
R9284:Cntnap1	UTSW	11	101,068,137 (GRCm39)	missense	probably benign
R9386:Cntnap1	UTSW	11	101,076,052 (GRCm39)	missense	probably damaging	1.00
R9689:Cntnap1	UTSW	11	101,072,178 (GRCm39)	missense	probably damaging	0.98
R9697:Cntnap1	UTSW	11	101,068,828 (GRCm39)	missense	possibly damaging	0.51
RF042:Cntnap1	UTSW	11	101,071,131 (GRCm39)	critical splice acceptor site	probably benign
RF048:Cntnap1	UTSW	11	101,080,389 (GRCm39)	unclassified	probably benign
RF048:Cntnap1	UTSW	11	101,071,131 (GRCm39)	critical splice acceptor site	probably benign
RF049:Cntnap1	UTSW	11	101,080,422 (GRCm39)	unclassified	probably benign
RF049:Cntnap1	UTSW	11	101,080,418 (GRCm39)	unclassified	probably benign
RF050:Cntnap1	UTSW	11	101,080,418 (GRCm39)	unclassified	probably benign
Z1176:Cntnap1	UTSW	11	101,073,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTACTAAGTGGGCACAGCC -3'
(R):5'- TGTAACGTGTGACCCAATCCC -3'

Sequencing Primer
(F):5'- GCACAGCCTTTGGAAGAGG -3'
(R):5'- GAATTAAAAGCTCCCTGTGTGGCC -3'

Posted On

2019-05-15