Mutagenetix > Incidental Mutation

Incidental Mutation 'R0281:Cntnap5b'

37489

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

Caspr5-2, C230078M14Rik

MMRRC Submission

038503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R0281 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99772765-100485942 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100072153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 212 (M212K)

Ref Sequence

ENSEMBL: ENSMUSP00000083944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086738]

AlphaFold

Q0V8T8

Predicted Effect

probably benign
Transcript: ENSMUST00000086738
AA Change: M212K

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: M212K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
FA58C	39	174	2.76e-16	SMART
LamG	201	338	2.84e-27	SMART
LamG	387	521	9.22e-27	SMART
EGF	549	583	1.14e0	SMART
Blast:FBG	586	758	3e-66	BLAST
LamG	798	925	2.12e-26	SMART
EGF	946	982	1.51e0	SMART
LamG	1023	1159	2.14e-13	SMART
transmembrane domain	1227	1249	N/A	INTRINSIC

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (104/106)

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169 (GRCm38)	Y577*	probably null	Het
2610507B11Rik	C	T	11: 78,271,924 (GRCm38)	L871F	possibly damaging	Het
4933430I17Rik	A	T	4: 62,546,067 (GRCm38)	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,429,379 (GRCm38)	R76*	probably null	Het
A1cf	G	A	19: 31,945,814 (GRCm38)	A505T	probably benign	Het
Abcc5	T	A	16: 20,422,400 (GRCm38)	I12F	probably damaging	Het
Abcf2	T	C	5: 24,566,564 (GRCm38)	E555G	probably damaging	Het
Acan	A	T	7: 79,100,285 (GRCm38)	E1601D	probably damaging	Het
Adam2	T	A	14: 66,037,606 (GRCm38)	K559N	probably benign	Het
Akap11	A	C	14: 78,510,089 (GRCm38)	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 122,895,568 (GRCm38)	D515G	probably benign	Het
Ankrd27	T	A	7: 35,619,371 (GRCm38)	N562K	probably damaging	Het
Atp10b	T	C	11: 43,153,304 (GRCm38)	I119T	probably benign	Het
Atr	T	C	9: 95,937,566 (GRCm38)	I2202T	probably benign	Het
BC067074	A	T	13: 113,369,143 (GRCm38)	I727F	probably damaging	Het
Brd4	T	A	17: 32,213,540 (GRCm38)		probably benign	Het
Catsperg2	C	T	7: 29,706,571 (GRCm38)	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,828,482 (GRCm38)		probably benign	Het
Cfap65	T	A	1: 74,927,071 (GRCm38)	I366F	probably damaging	Het
Cnga4	G	T	7: 105,407,668 (GRCm38)	R326L	probably damaging	Het
Col6a6	T	A	9: 105,784,116 (GRCm38)	M265L	probably benign	Het
Cyp26b1	A	T	6: 84,574,556 (GRCm38)	F417Y	probably damaging	Het
Dhx15	A	T	5: 52,150,746 (GRCm38)	M768K	probably benign	Het
Drc7	G	A	8: 95,071,253 (GRCm38)	R433H	possibly damaging	Het
Duox2	C	T	2: 122,292,304 (GRCm38)	V550M	probably benign	Het
Elmo2	A	G	2: 165,296,890 (GRCm38)	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,317,530 (GRCm38)	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977 (GRCm38)	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,457,006 (GRCm38)	C785F	probably benign	Het
Gm12253	T	C	11: 58,440,012 (GRCm38)		probably benign	Het
Gnat2	T	A	3: 108,095,562 (GRCm38)	Y95*	probably null	Het
Gopc	T	C	10: 52,350,678 (GRCm38)	K220E	probably damaging	Het
Hectd4	G	A	5: 121,254,251 (GRCm38)	D193N	possibly damaging	Het
Hexa	G	A	9: 59,554,226 (GRCm38)		probably null	Het
Hspa4l	T	C	3: 40,785,408 (GRCm38)		probably benign	Het
Hspa5	T	C	2: 34,774,320 (GRCm38)	S301P	probably damaging	Het
Ice1	A	T	13: 70,604,047 (GRCm38)	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,206,054 (GRCm38)	L17P	probably damaging	Het
Itk	T	C	11: 46,353,916 (GRCm38)	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,103,460 (GRCm38)	V560A	probably damaging	Het
Lama1	A	G	17: 67,817,569 (GRCm38)	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,806,851 (GRCm38)	C32*	probably null	Het
Lcp2	T	A	11: 34,069,854 (GRCm38)		probably benign	Het
Lhx9	C	T	1: 138,832,904 (GRCm38)	G236D	probably benign	Het
Lrrc38	A	T	4: 143,350,409 (GRCm38)	I81F	probably damaging	Het
Ly6a	C	T	15: 74,995,387 (GRCm38)	V94M	probably benign	Het
Map3k13	A	G	16: 21,914,157 (GRCm38)	E503G	probably damaging	Het
Mertk	T	C	2: 128,782,621 (GRCm38)		probably benign	Het
Mkl2	T	A	16: 13,412,163 (GRCm38)	I915N	probably damaging	Het
Msantd2	G	A	9: 37,523,219 (GRCm38)	D252N	possibly damaging	Het
Mtmr12	T	A	15: 12,257,706 (GRCm38)	L290*	probably null	Het
Myo3a	T	C	2: 22,245,598 (GRCm38)	I92T	probably benign	Het
Naglu	T	A	11: 101,074,027 (GRCm38)	N313K	probably damaging	Het
Nceh1	T	C	3: 27,222,804 (GRCm38)	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,250,883 (GRCm38)	T47A	probably damaging	Het
Nrp1	T	A	8: 128,460,683 (GRCm38)	F403L	probably damaging	Het
Nxph3	T	C	11: 95,511,256 (GRCm38)	T111A	possibly damaging	Het
Obscn	T	A	11: 59,038,615 (GRCm38)	E6061V	probably damaging	Het
Obsl1	C	A	1: 75,492,927 (GRCm38)	G1149W	probably damaging	Het
Olfr1162	C	T	2: 88,050,412 (GRCm38)	V71I	possibly damaging	Het
Olfr1370	T	A	13: 21,072,374 (GRCm38)	Y309F	probably benign	Het
Olfr1487	A	G	19: 13,619,485 (GRCm38)	T65A	probably benign	Het
Olfr267	A	T	4: 58,784,981 (GRCm38)	V247E	probably damaging	Het
Olfr292	A	G	7: 86,694,860 (GRCm38)	T135A	probably benign	Het
Olfr493	A	C	7: 108,346,914 (GRCm38)	D22E	probably benign	Het
Olfr814	T	A	10: 129,874,546 (GRCm38)	L70F	possibly damaging	Het
Pde9a	T	C	17: 31,455,106 (GRCm38)	V55A	probably damaging	Het
Pip4k2c	A	T	10: 127,205,821 (GRCm38)		probably null	Het
Plvap	T	C	8: 71,511,382 (GRCm38)	N112S	probably damaging	Het
Pop1	T	A	15: 34,529,858 (GRCm38)		probably null	Het
Ppip5k2	T	C	1: 97,716,553 (GRCm38)	H1113R	possibly damaging	Het
Ptprk	A	T	10: 28,573,392 (GRCm38)	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,457,042 (GRCm38)	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,674,605 (GRCm38)	T565A	probably benign	Het
Rbm15	C	A	3: 107,331,155 (GRCm38)	R642S	probably damaging	Het
Rpsa	G	A	9: 120,131,003 (GRCm38)	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,686,810 (GRCm38)	S3303P	probably damaging	Het
Scg2	T	A	1: 79,435,512 (GRCm38)	N458I	possibly damaging	Het
Setx	A	G	2: 29,179,643 (GRCm38)	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,267,567 (GRCm38)		probably benign	Het
Slc8a2	T	A	7: 16,140,989 (GRCm38)	D387E	probably benign	Het
Smarcc2	A	G	10: 128,474,722 (GRCm38)	T407A	probably benign	Het
Snap25	A	G	2: 136,777,464 (GRCm38)	D179G	probably damaging	Het
Socs4	T	C	14: 47,289,868 (GRCm38)	S74P	probably benign	Het
Sp6	T	A	11: 97,021,925 (GRCm38)	Y155N	probably benign	Het
Srrt	C	T	5: 137,296,127 (GRCm38)		probably benign	Het
Steap1	C	T	5: 5,736,431 (GRCm38)	M335I	probably benign	Het
Stra6	A	T	9: 58,145,489 (GRCm38)	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582 (GRCm38)	S1421P	probably damaging	Het
Tcea3	G	A	4: 136,271,366 (GRCm38)	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,737,704 (GRCm38)	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,270,237 (GRCm38)	K89E	probably damaging	Het
Trp63	T	A	16: 25,764,302 (GRCm38)		probably benign	Het
Ube2d2a	A	G	18: 35,800,132 (GRCm38)	Y74C	probably damaging	Het
Usp19	T	G	9: 108,498,509 (GRCm38)	F885V	probably damaging	Het
Utp18	T	A	11: 93,882,177 (GRCm38)		probably benign	Het
Vmn2r116	T	C	17: 23,401,413 (GRCm38)	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249 (GRCm38)		probably benign	Het
Vmn2r68	C	G	7: 85,233,258 (GRCm38)		probably null	Het
Zfp318	C	T	17: 46,412,614 (GRCm38)	P1848S	probably benign	Het
Zfp984	G	T	4: 147,755,265 (GRCm38)	N376K	probably benign	Het

Other mutations in Cntnap5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Cntnap5b	APN	1	100,050,754 (GRCm38)	missense	probably damaging	1.00
IGL00477:Cntnap5b	APN	1	100,213,743 (GRCm38)	missense	probably damaging	0.97
IGL00505:Cntnap5b	APN	1	100,379,161 (GRCm38)	missense	possibly damaging	0.81
IGL00596:Cntnap5b	APN	1	100,379,161 (GRCm38)	missense	possibly damaging	0.81
IGL00846:Cntnap5b	APN	1	100,164,223 (GRCm38)	missense	probably damaging	1.00
IGL00895:Cntnap5b	APN	1	100,383,585 (GRCm38)	missense	probably damaging	0.98
IGL00948:Cntnap5b	APN	1	100,141,357 (GRCm38)	missense	probably benign	0.00
IGL01073:Cntnap5b	APN	1	100,076,030 (GRCm38)	missense	probably benign	0.08
IGL01523:Cntnap5b	APN	1	100,431,779 (GRCm38)	missense	probably benign	0.02
IGL01779:Cntnap5b	APN	1	99,967,339 (GRCm38)	missense	probably damaging	1.00
IGL02253:Cntnap5b	APN	1	100,164,211 (GRCm38)	missense	possibly damaging	0.75
IGL02628:Cntnap5b	APN	1	100,072,069 (GRCm38)	missense	probably damaging	0.97
R0166:Cntnap5b	UTSW	1	100,274,361 (GRCm38)	missense	probably benign	0.41
R0211:Cntnap5b	UTSW	1	100,478,374 (GRCm38)	missense	possibly damaging	0.82
R0363:Cntnap5b	UTSW	1	100,274,468 (GRCm38)	missense	probably benign	0.01
R0514:Cntnap5b	UTSW	1	99,772,786 (GRCm38)	missense	probably benign
R0645:Cntnap5b	UTSW	1	100,072,042 (GRCm38)	splice site	probably benign
R0848:Cntnap5b	UTSW	1	100,255,163 (GRCm38)	missense	probably benign	0.22
R1006:Cntnap5b	UTSW	1	100,383,617 (GRCm38)	missense	probably benign	0.00
R1349:Cntnap5b	UTSW	1	100,164,088 (GRCm38)	missense	probably benign	0.09
R1372:Cntnap5b	UTSW	1	100,164,088 (GRCm38)	missense	probably benign	0.09
R1474:Cntnap5b	UTSW	1	100,072,089 (GRCm38)	missense	probably benign	0.25
R1681:Cntnap5b	UTSW	1	100,076,107 (GRCm38)	missense	probably damaging	0.98
R1727:Cntnap5b	UTSW	1	100,213,744 (GRCm38)	missense	possibly damaging	0.91
R1760:Cntnap5b	UTSW	1	99,772,810 (GRCm38)	missense	probably benign	0.05
R1777:Cntnap5b	UTSW	1	100,370,078 (GRCm38)	missense	probably benign	0.10
R1939:Cntnap5b	UTSW	1	99,967,348 (GRCm38)	missense	probably benign
R1988:Cntnap5b	UTSW	1	100,072,140 (GRCm38)	missense	possibly damaging	0.92
R2069:Cntnap5b	UTSW	1	100,358,725 (GRCm38)	missense	probably benign	0.04
R2113:Cntnap5b	UTSW	1	100,274,415 (GRCm38)	missense	probably benign
R2148:Cntnap5b	UTSW	1	100,383,474 (GRCm38)	missense	probably benign	0.01
R2158:Cntnap5b	UTSW	1	100,390,572 (GRCm38)	missense	probably damaging	1.00
R2223:Cntnap5b	UTSW	1	100,213,687 (GRCm38)	missense	probably damaging	1.00
R2350:Cntnap5b	UTSW	1	100,379,126 (GRCm38)	missense	probably damaging	1.00
R3840:Cntnap5b	UTSW	1	100,383,477 (GRCm38)	missense	possibly damaging	0.50
R4329:Cntnap5b	UTSW	1	100,072,163 (GRCm38)	missense	probably damaging	0.99
R4609:Cntnap5b	UTSW	1	99,772,847 (GRCm38)	critical splice donor site	probably null
R4799:Cntnap5b	UTSW	1	100,358,725 (GRCm38)	missense	probably benign	0.04
R5129:Cntnap5b	UTSW	1	100,379,090 (GRCm38)	missense	probably damaging	1.00
R5323:Cntnap5b	UTSW	1	100,383,550 (GRCm38)	nonsense	probably null
R5434:Cntnap5b	UTSW	1	100,072,201 (GRCm38)	missense	probably benign	0.02
R5579:Cntnap5b	UTSW	1	100,383,399 (GRCm38)	missense	probably benign	0.27
R5579:Cntnap5b	UTSW	1	100,383,395 (GRCm38)	nonsense	probably null
R5630:Cntnap5b	UTSW	1	100,072,069 (GRCm38)	missense	probably damaging	0.99
R5644:Cntnap5b	UTSW	1	100,383,601 (GRCm38)	missense	probably benign	0.00
R5761:Cntnap5b	UTSW	1	100,446,894 (GRCm38)	missense	probably damaging	1.00
R6042:Cntnap5b	UTSW	1	100,390,592 (GRCm38)	missense	probably benign
R6147:Cntnap5b	UTSW	1	100,050,781 (GRCm38)	missense	probably damaging	1.00
R6190:Cntnap5b	UTSW	1	100,379,075 (GRCm38)	missense	possibly damaging	0.80
R6248:Cntnap5b	UTSW	1	100,072,102 (GRCm38)	missense	probably benign	0.30
R6286:Cntnap5b	UTSW	1	100,255,073 (GRCm38)	missense	possibly damaging	0.82
R6306:Cntnap5b	UTSW	1	100,164,146 (GRCm38)	missense	probably damaging	1.00
R6336:Cntnap5b	UTSW	1	100,358,669 (GRCm38)	missense	probably benign	0.00
R6360:Cntnap5b	UTSW	1	100,431,736 (GRCm38)	nonsense	probably null
R6722:Cntnap5b	UTSW	1	100,478,486 (GRCm38)	missense	probably damaging	0.98
R6750:Cntnap5b	UTSW	1	100,274,499 (GRCm38)	missense	probably damaging	1.00
R6806:Cntnap5b	UTSW	1	99,940,649 (GRCm38)	missense	probably damaging	1.00
R6933:Cntnap5b	UTSW	1	100,383,450 (GRCm38)	missense	probably benign	0.01
R6957:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6958:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6959:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6961:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R6962:Cntnap5b	UTSW	1	100,274,472 (GRCm38)	missense	probably benign	0.08
R7088:Cntnap5b	UTSW	1	100,160,077 (GRCm38)	missense	probably damaging	0.99
R7146:Cntnap5b	UTSW	1	100,050,794 (GRCm38)	splice site	probably null
R7165:Cntnap5b	UTSW	1	100,076,162 (GRCm38)	missense	possibly damaging	0.94
R7190:Cntnap5b	UTSW	1	100,431,849 (GRCm38)	splice site	probably null
R7376:Cntnap5b	UTSW	1	99,967,269 (GRCm38)	missense	possibly damaging	0.92
R7385:Cntnap5b	UTSW	1	100,379,090 (GRCm38)	missense	probably damaging	1.00
R8053:Cntnap5b	UTSW	1	100,390,677 (GRCm38)	missense	probably damaging	0.98
R8080:Cntnap5b	UTSW	1	100,072,203 (GRCm38)	missense	probably benign	0.16
R8082:Cntnap5b	UTSW	1	100,379,216 (GRCm38)	missense	probably benign	0.00
R8271:Cntnap5b	UTSW	1	100,072,107 (GRCm38)	missense	probably benign	0.00
R8303:Cntnap5b	UTSW	1	100,141,297 (GRCm38)	missense	probably damaging	1.00
R8428:Cntnap5b	UTSW	1	100,383,585 (GRCm38)	missense	probably damaging	0.98
R9131:Cntnap5b	UTSW	1	100,050,643 (GRCm38)	missense	probably benign	0.22
R9144:Cntnap5b	UTSW	1	100,050,787 (GRCm38)	missense	probably damaging	1.00
R9522:Cntnap5b	UTSW	1	100,484,622 (GRCm38)	missense	probably benign	0.00
R9611:Cntnap5b	UTSW	1	99,967,210 (GRCm38)	missense	probably damaging	1.00
RF007:Cntnap5b	UTSW	1	100,164,070 (GRCm38)	missense	probably damaging	1.00
X0020:Cntnap5b	UTSW	1	100,431,848 (GRCm38)	critical splice donor site	probably null
Z1176:Cntnap5b	UTSW	1	100,446,840 (GRCm38)	missense	probably benign	0.01
Z1176:Cntnap5b	UTSW	1	100,164,228 (GRCm38)	missense	possibly damaging	0.86
Z1176:Cntnap5b	UTSW	1	99,967,270 (GRCm38)	missense	probably damaging	0.99
Z1177:Cntnap5b	UTSW	1	100,050,706 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGAGGAAGTTATGAAAGCGCCCTTG -3'
(R):5'- ACATGAGATTTACCTCTGGCTTCAACAG -3'

Sequencing Primer
(F):5'- CCTGTGAATTGAGCAGCATC -3'
(R):5'- ctctggcttcaacagtcatataaag -3'

Posted On

2013-05-23