Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Cntnap5b'

693597

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R9131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99978368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 128 (T128I)

Ref Sequence

ENSEMBL: ENSMUSP00000083944 (fasta)

Gene Model

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

AlphaFold

Q0V8T8

Predicted Effect

probably benign
Transcript: ENSMUST00000086738
AA Change: T128I

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

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: T128I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,160,075 (GRCm39)	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,244,722 (GRCm39)	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,978,258 (GRCm39)	Q362K	probably benign	Het
Akr1d1	A	G	6: 37,531,451 (GRCm39)	K163R	probably benign	Het
Arhgap42	A	G	9: 9,011,364 (GRCm39)	L474P	probably damaging	Het
Arhgef18	G	A	8: 3,487,007 (GRCm39)	R242Q	possibly damaging	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
Atm	A	T	9: 53,445,044 (GRCm39)	I34N	probably benign	Het
Brms1l	A	G	12: 55,906,913 (GRCm39)	E160G	possibly damaging	Het
Camk2a	C	T	18: 61,076,327 (GRCm39)	H102Y	unknown	Het
Cd300lb	A	G	11: 114,819,134 (GRCm39)	V165A	probably damaging	Het
Cela1	G	A	15: 100,579,038 (GRCm39)	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642 (GRCm39)	S649P		Het
Cilk1	A	T	9: 78,074,230 (GRCm39)	S551C	possibly damaging	Het
Clic3	A	G	2: 25,348,325 (GRCm39)	Q130R	probably benign	Het
Clns1a	G	A	7: 97,363,125 (GRCm39)	G166R	probably damaging	Het
Cngb1	A	T	8: 95,979,893 (GRCm39)	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,429,839 (GRCm39)	A319E	probably benign	Het
Csf3r	G	A	4: 125,923,813 (GRCm39)	D108N	probably benign	Het
Ctsc	G	A	7: 87,959,016 (GRCm39)	W432*	probably null	Het
Dapk1	G	A	13: 60,909,208 (GRCm39)	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,065,031 (GRCm39)	P718Q	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,266,180 (GRCm39)	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,916,136 (GRCm39)	Q107L	probably benign	Het
Eml2	A	G	7: 18,918,751 (GRCm39)	D67G		Het
Eml5	A	T	12: 98,825,099 (GRCm39)	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,480,573 (GRCm39)	D509G		Het
Farsb	T	C	1: 78,459,951 (GRCm39)	K43E	probably benign	Het
Fbxw20	A	G	9: 109,052,514 (GRCm39)	F273S	probably damaging	Het
Fig4	A	T	10: 41,141,407 (GRCm39)	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756 (GRCm39)	N403K	probably damaging	Het
Fsip2	A	T	2: 82,813,170 (GRCm39)	H3163L	probably benign	Het
Gm38119	C	A	3: 92,645,403 (GRCm39)	G64*	probably null	Het
Gpr18	A	G	14: 122,149,173 (GRCm39)	V284A	probably benign	Het
Hacd3	A	G	9: 64,908,286 (GRCm39)	V170A	probably damaging	Het
Hps3	T	C	3: 20,083,350 (GRCm39)	E281G	probably damaging	Het
Ighv12-3	A	C	12: 114,330,546 (GRCm39)	V10G	probably benign	Het
Lrp1b	G	A	2: 40,589,590 (GRCm39)	R3862*	probably null	Het
Ltbp4	A	G	7: 27,036,976 (GRCm39)	L6P	unknown	Het
Ly6h	T	A	15: 75,437,522 (GRCm39)	T53S	probably damaging	Het
Ly6i	A	G	15: 74,855,006 (GRCm39)		probably benign	Het
Mat2a	G	A	6: 72,413,227 (GRCm39)	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275 (GRCm39)	D5066E	possibly damaging	Het
Med23	T	A	10: 24,780,279 (GRCm39)	F976I		Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mylk	G	T	16: 34,776,835 (GRCm39)	C1336F	probably benign	Het
Myo9a	G	C	9: 59,768,772 (GRCm39)	R918P	probably damaging	Het
Naglu	T	A	11: 100,967,731 (GRCm39)	D560E	probably damaging	Het
Nrg2	C	T	18: 36,157,396 (GRCm39)	V430M	probably damaging	Het
Oit3	T	C	10: 59,271,751 (GRCm39)	N202S	probably benign	Het
Or13a1	A	G	6: 116,470,881 (GRCm39)	T104A	probably benign	Het
Or1e29	A	T	11: 73,668,150 (GRCm39)	M1K	probably null	Het
Or52r1	T	C	7: 102,537,186 (GRCm39)	H58R	probably benign	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or6c63-ps1	C	A	10: 128,899,097 (GRCm39)	V260F	probably damaging	Het
Otog	T	A	7: 45,952,597 (GRCm39)	C423*	probably null	Het
Pcolce	T	A	5: 137,603,770 (GRCm39)	T401S	probably benign	Het
Pcsk2	T	C	2: 143,655,583 (GRCm39)	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,383,099 (GRCm39)	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,285,239 (GRCm39)	M826K	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,106 (GRCm39)	R898G	possibly damaging	Het
Prl7b1	A	G	13: 27,790,968 (GRCm39)	V39A	probably benign	Het
Pros1	T	A	16: 62,748,397 (GRCm39)	D623E	probably damaging	Het
Psg16	A	G	7: 16,832,024 (GRCm39)	D320G	probably benign	Het
Ptpre	T	A	7: 135,280,875 (GRCm39)	H612Q	probably damaging	Het
Rbm34	A	G	8: 127,679,928 (GRCm39)	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,304,702 (GRCm39)	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,381,827 (GRCm39)	L143*	probably null	Het
Septin9	T	A	11: 117,181,460 (GRCm39)	S105T	probably damaging	Het
Shprh	T	C	10: 11,038,589 (GRCm39)	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,466,063 (GRCm39)	*593E	probably null	Het
Smarcc1	A	G	9: 109,964,710 (GRCm39)	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,689,603 (GRCm39)	V255A	probably benign	Het
Tiam1	A	G	16: 89,657,155 (GRCm39)	S694P	probably damaging	Het
Tmem130	T	C	5: 144,680,529 (GRCm39)	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,105,203 (GRCm39)		probably benign	Het
Tpcn2	A	G	7: 144,814,662 (GRCm39)	Y480H	probably damaging	Het
Trf	G	T	9: 103,089,087 (GRCm39)	A600D	probably damaging	Het
Ttc16	A	T	2: 32,659,232 (GRCm39)	L346Q	probably damaging	Het
Vars1	A	C	17: 35,223,773 (GRCm39)	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,342 (GRCm39)	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,530,020 (GRCm39)	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,546,143 (GRCm39)	T672A	probably damaging	Het
Wdfy4	T	A	14: 32,819,807 (GRCm39)	T1466S		Het
Zcwpw1	T	C	5: 137,809,182 (GRCm39)	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp273	A	T	13: 67,973,685 (GRCm39)	H271L	probably damaging	Het
Zfp764	C	A	7: 127,005,719 (GRCm39)	E20*	probably null	Het
Znfx1	A	T	2: 166,892,298 (GRCm39)	N639K	probably benign	Het

Other mutations in Cntnap5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Cntnap5b	APN	1	99,978,479 (GRCm39)	missense	probably damaging	1.00
IGL00477:Cntnap5b	APN	1	100,141,468 (GRCm39)	missense	probably damaging	0.97
IGL00505:Cntnap5b	APN	1	100,306,886 (GRCm39)	missense	possibly damaging	0.81
IGL00596:Cntnap5b	APN	1	100,306,886 (GRCm39)	missense	possibly damaging	0.81
IGL00846:Cntnap5b	APN	1	100,091,948 (GRCm39)	missense	probably damaging	1.00
IGL00895:Cntnap5b	APN	1	100,311,310 (GRCm39)	missense	probably damaging	0.98
IGL00948:Cntnap5b	APN	1	100,069,082 (GRCm39)	missense	probably benign	0.00
IGL01073:Cntnap5b	APN	1	100,003,755 (GRCm39)	missense	probably benign	0.08
IGL01523:Cntnap5b	APN	1	100,359,504 (GRCm39)	missense	probably benign	0.02
IGL01779:Cntnap5b	APN	1	99,895,064 (GRCm39)	missense	probably damaging	1.00
IGL02253:Cntnap5b	APN	1	100,091,936 (GRCm39)	missense	possibly damaging	0.75
IGL02628:Cntnap5b	APN	1	99,999,794 (GRCm39)	missense	probably damaging	0.97
R0166:Cntnap5b	UTSW	1	100,202,086 (GRCm39)	missense	probably benign	0.41
R0211:Cntnap5b	UTSW	1	100,406,099 (GRCm39)	missense	possibly damaging	0.82
R0281:Cntnap5b	UTSW	1	99,999,878 (GRCm39)	missense	probably benign	0.22
R0363:Cntnap5b	UTSW	1	100,202,193 (GRCm39)	missense	probably benign	0.01
R0514:Cntnap5b	UTSW	1	99,700,511 (GRCm39)	missense	probably benign
R0645:Cntnap5b	UTSW	1	99,999,767 (GRCm39)	splice site	probably benign
R0848:Cntnap5b	UTSW	1	100,182,888 (GRCm39)	missense	probably benign	0.22
R1006:Cntnap5b	UTSW	1	100,311,342 (GRCm39)	missense	probably benign	0.00
R1349:Cntnap5b	UTSW	1	100,091,813 (GRCm39)	missense	probably benign	0.09
R1372:Cntnap5b	UTSW	1	100,091,813 (GRCm39)	missense	probably benign	0.09
R1474:Cntnap5b	UTSW	1	99,999,814 (GRCm39)	missense	probably benign	0.25
R1681:Cntnap5b	UTSW	1	100,003,832 (GRCm39)	missense	probably damaging	0.98
R1727:Cntnap5b	UTSW	1	100,141,469 (GRCm39)	missense	possibly damaging	0.91
R1760:Cntnap5b	UTSW	1	99,700,535 (GRCm39)	missense	probably benign	0.05
R1777:Cntnap5b	UTSW	1	100,297,803 (GRCm39)	missense	probably benign	0.10
R1939:Cntnap5b	UTSW	1	99,895,073 (GRCm39)	missense	probably benign
R1988:Cntnap5b	UTSW	1	99,999,865 (GRCm39)	missense	possibly damaging	0.92
R2069:Cntnap5b	UTSW	1	100,286,450 (GRCm39)	missense	probably benign	0.04
R2113:Cntnap5b	UTSW	1	100,202,140 (GRCm39)	missense	probably benign
R2148:Cntnap5b	UTSW	1	100,311,199 (GRCm39)	missense	probably benign	0.01
R2158:Cntnap5b	UTSW	1	100,318,297 (GRCm39)	missense	probably damaging	1.00
R2223:Cntnap5b	UTSW	1	100,141,412 (GRCm39)	missense	probably damaging	1.00
R2350:Cntnap5b	UTSW	1	100,306,851 (GRCm39)	missense	probably damaging	1.00
R3840:Cntnap5b	UTSW	1	100,311,202 (GRCm39)	missense	possibly damaging	0.50
R4329:Cntnap5b	UTSW	1	99,999,888 (GRCm39)	missense	probably damaging	0.99
R4609:Cntnap5b	UTSW	1	99,700,572 (GRCm39)	critical splice donor site	probably null
R4799:Cntnap5b	UTSW	1	100,286,450 (GRCm39)	missense	probably benign	0.04
R5129:Cntnap5b	UTSW	1	100,306,815 (GRCm39)	missense	probably damaging	1.00
R5323:Cntnap5b	UTSW	1	100,311,275 (GRCm39)	nonsense	probably null
R5434:Cntnap5b	UTSW	1	99,999,926 (GRCm39)	missense	probably benign	0.02
R5579:Cntnap5b	UTSW	1	100,311,120 (GRCm39)	nonsense	probably null
R5579:Cntnap5b	UTSW	1	100,311,124 (GRCm39)	missense	probably benign	0.27
R5630:Cntnap5b	UTSW	1	99,999,794 (GRCm39)	missense	probably damaging	0.99
R5644:Cntnap5b	UTSW	1	100,311,326 (GRCm39)	missense	probably benign	0.00
R5761:Cntnap5b	UTSW	1	100,374,619 (GRCm39)	missense	probably damaging	1.00
R6042:Cntnap5b	UTSW	1	100,318,317 (GRCm39)	missense	probably benign
R6147:Cntnap5b	UTSW	1	99,978,506 (GRCm39)	missense	probably damaging	1.00
R6190:Cntnap5b	UTSW	1	100,306,800 (GRCm39)	missense	possibly damaging	0.80
R6248:Cntnap5b	UTSW	1	99,999,827 (GRCm39)	missense	probably benign	0.30
R6286:Cntnap5b	UTSW	1	100,182,798 (GRCm39)	missense	possibly damaging	0.82
R6306:Cntnap5b	UTSW	1	100,091,871 (GRCm39)	missense	probably damaging	1.00
R6336:Cntnap5b	UTSW	1	100,286,394 (GRCm39)	missense	probably benign	0.00
R6360:Cntnap5b	UTSW	1	100,359,461 (GRCm39)	nonsense	probably null
R6722:Cntnap5b	UTSW	1	100,406,211 (GRCm39)	missense	probably damaging	0.98
R6750:Cntnap5b	UTSW	1	100,202,224 (GRCm39)	missense	probably damaging	1.00
R6806:Cntnap5b	UTSW	1	99,868,374 (GRCm39)	missense	probably damaging	1.00
R6933:Cntnap5b	UTSW	1	100,311,175 (GRCm39)	missense	probably benign	0.01
R6957:Cntnap5b	UTSW	1	100,202,197 (GRCm39)	missense	probably benign	0.08
R6958:Cntnap5b	UTSW	1	100,202,197 (GRCm39)	missense	probably benign	0.08
R6959:Cntnap5b	UTSW	1	100,202,197 (GRCm39)	missense	probably benign	0.08
R6961:Cntnap5b	UTSW	1	100,202,197 (GRCm39)	missense	probably benign	0.08
R6962:Cntnap5b	UTSW	1	100,202,197 (GRCm39)	missense	probably benign	0.08
R7088:Cntnap5b	UTSW	1	100,087,802 (GRCm39)	missense	probably damaging	0.99
R7146:Cntnap5b	UTSW	1	99,978,519 (GRCm39)	splice site	probably null
R7165:Cntnap5b	UTSW	1	100,003,887 (GRCm39)	missense	possibly damaging	0.94
R7190:Cntnap5b	UTSW	1	100,359,574 (GRCm39)	splice site	probably null
R7376:Cntnap5b	UTSW	1	99,894,994 (GRCm39)	missense	possibly damaging	0.92
R7385:Cntnap5b	UTSW	1	100,306,815 (GRCm39)	missense	probably damaging	1.00
R8053:Cntnap5b	UTSW	1	100,318,402 (GRCm39)	missense	probably damaging	0.98
R8080:Cntnap5b	UTSW	1	99,999,928 (GRCm39)	missense	probably benign	0.16
R8082:Cntnap5b	UTSW	1	100,306,941 (GRCm39)	missense	probably benign	0.00
R8271:Cntnap5b	UTSW	1	99,999,832 (GRCm39)	missense	probably benign	0.00
R8303:Cntnap5b	UTSW	1	100,069,022 (GRCm39)	missense	probably damaging	1.00
R8428:Cntnap5b	UTSW	1	100,311,310 (GRCm39)	missense	probably damaging	0.98
R9144:Cntnap5b	UTSW	1	99,978,512 (GRCm39)	missense	probably damaging	1.00
R9522:Cntnap5b	UTSW	1	100,412,347 (GRCm39)	missense	probably benign	0.00
R9611:Cntnap5b	UTSW	1	99,894,935 (GRCm39)	missense	probably damaging	1.00
RF007:Cntnap5b	UTSW	1	100,091,795 (GRCm39)	missense	probably damaging	1.00
X0020:Cntnap5b	UTSW	1	100,359,573 (GRCm39)	critical splice donor site	probably null
Z1176:Cntnap5b	UTSW	1	100,374,565 (GRCm39)	missense	probably benign	0.01
Z1176:Cntnap5b	UTSW	1	100,091,953 (GRCm39)	missense	possibly damaging	0.86
Z1176:Cntnap5b	UTSW	1	99,894,995 (GRCm39)	missense	probably damaging	0.99
Z1177:Cntnap5b	UTSW	1	99,978,431 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATGGTAGGCAGAAGCACATCC -3'
(R):5'- GTGACTTGATCCTTGTGAGTACTTAC -3'

Sequencing Primer
(F):5'- AATTGTAATGCCTGGGCCATCAC -3'
(R):5'- CCTTGTGAGTACTTACTGTAGAAGC -3'

Posted On

2022-01-20