Mutagenetix > Incidental Mutation

Incidental Mutation 'R1474:Cntnap5b'

163855

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5b

Ensembl Gene

ENSMUSG00000067028

Gene Name

contactin associated protein-like 5B

Synonyms

C230078M14Rik, Caspr5-2

MMRRC Submission

039527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R1474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99700490-100413667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99999814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 191 (Y191H)

Ref Sequence

ENSEMBL: ENSMUSP00000083944 (fasta)

Gene Model

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

AlphaFold

Q0V8T8

Predicted Effect

probably benign
Transcript: ENSMUST00000086738
AA Change: Y191H

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: Y191H

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

0.4533

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

95% (104/110)

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,960,635 (GRCm39)	A628S	probably damaging	Het
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Ada	C	T	2: 163,574,814 (GRCm39)	A108T	possibly damaging	Het
Adam6a	T	A	12: 113,508,069 (GRCm39)	D147E	possibly damaging	Het
Ampd1	A	T	3: 103,006,154 (GRCm39)	T655S	probably damaging	Het
Ankk1	A	G	9: 49,327,139 (GRCm39)	F680S	probably damaging	Het
Asap1	G	A	15: 63,991,869 (GRCm39)	T783I	probably benign	Het
Astn1	T	A	1: 158,329,923 (GRCm39)	N259K	probably damaging	Het
Birc6	T	C	17: 74,886,673 (GRCm39)	V667A	probably damaging	Het
Brat1	G	A	5: 140,698,382 (GRCm39)	V185I	probably benign	Het
Btnl6	T	C	17: 34,732,620 (GRCm39)	Y318C	probably damaging	Het
Caskin2	G	A	11: 115,694,522 (GRCm39)	P360S	probably benign	Het
Ccdc121rt3	T	C	5: 112,503,642 (GRCm39)	T21A	probably benign	Het
Cd68	T	A	11: 69,555,754 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,952,355 (GRCm39)		probably benign	Het
Cdk6	G	A	5: 3,523,217 (GRCm39)	M212I	probably benign	Het
Ceacam5	T	A	7: 17,481,159 (GRCm39)	F302Y	probably damaging	Het
Celsr2	T	C	3: 108,301,055 (GRCm39)	E2746G	possibly damaging	Het
Clec4a4	G	A	6: 122,989,703 (GRCm39)	V115I	probably benign	Het
Clip3	C	A	7: 29,998,307 (GRCm39)	A251E	possibly damaging	Het
Cmah	T	C	13: 24,623,180 (GRCm39)	L350P	probably damaging	Het
Cntnap5a	C	T	1: 116,370,103 (GRCm39)	R907*	probably null	Het
Col4a4	A	T	1: 82,458,207 (GRCm39)	C1122*	probably null	Het
Coq5	A	G	5: 115,433,842 (GRCm39)		probably benign	Het
Cpxcr1	A	G	X: 115,387,136 (GRCm39)	K16E	possibly damaging	Het
Dclk3	T	C	9: 111,298,304 (GRCm39)	I616T	probably benign	Het
Dhrs3	A	T	4: 144,646,057 (GRCm39)	T122S	probably damaging	Het
Dnm1	T	C	2: 32,210,596 (GRCm39)	I502V	probably benign	Het
Dscaml1	G	T	9: 45,596,519 (GRCm39)	G788W	probably damaging	Het
Dusp10	C	T	1: 183,769,645 (GRCm39)		probably null	Het
Ehbp1l1	C	A	19: 5,769,112 (GRCm39)	L730F	possibly damaging	Het
Eif2ak1	C	T	5: 143,808,785 (GRCm39)	H75Y	probably damaging	Het
Evi2a	T	C	11: 79,418,398 (GRCm39)	T71A	probably benign	Het
Fam184a	A	T	10: 53,511,461 (GRCm39)	S1073T	probably damaging	Het
Fam227a	T	C	15: 79,499,582 (GRCm39)	Y591C	probably damaging	Het
Fam83a	C	T	15: 57,873,272 (GRCm39)	T367M	probably benign	Het
Fam83g	A	G	11: 61,593,819 (GRCm39)	D451G	probably damaging	Het
Fbn1	A	G	2: 125,203,185 (GRCm39)	F1213L	possibly damaging	Het
Fcgbp	G	A	7: 27,791,273 (GRCm39)	V845I	probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxn1	T	A	11: 78,251,933 (GRCm39)	M433L	probably benign	Het
Gm6632	T	G	5: 59,211,679 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,738,418 (GRCm39)		probably benign	Het
Hhipl1	C	T	12: 108,277,996 (GRCm39)	T108I	probably damaging	Het
Hs2st1	A	T	3: 144,141,256 (GRCm39)	F271I	possibly damaging	Het
Ido1	T	C	8: 25,074,462 (GRCm39)	S303G	probably damaging	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Kcnc2	A	G	10: 112,292,305 (GRCm39)	K49E	probably damaging	Het
Kif3b	T	A	2: 153,162,235 (GRCm39)	V482E	probably damaging	Het
Ldlrad2	G	A	4: 137,299,525 (GRCm39)	P100S	probably benign	Het
Lrba	G	T	3: 86,687,573 (GRCm39)		probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mob3a	A	T	10: 80,522,988 (GRCm39)	M215K	probably benign	Het
Mterf1b	T	G	5: 4,247,163 (GRCm39)	L268R	probably damaging	Het
Mvk	T	C	5: 114,598,157 (GRCm39)	F365L	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Myo1f	G	T	17: 33,813,001 (GRCm39)	K602N	possibly damaging	Het
Nr2c2ap	A	T	8: 70,585,765 (GRCm39)	M108L	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Ogfrl1	A	G	1: 23,414,890 (GRCm39)	F206L	probably damaging	Het
Ola1	A	T	2: 72,987,188 (GRCm39)	I148N	probably damaging	Het
Or14c46	G	T	7: 85,918,270 (GRCm39)	H242Q	probably damaging	Het
Or4d10b	T	A	19: 12,036,844 (GRCm39)	T91S	probably benign	Het
Or51f1d	A	G	7: 102,701,288 (GRCm39)	Y261C	probably damaging	Het
Or6c2	A	T	10: 129,362,824 (GRCm39)	M243L	probably benign	Het
Or9m2	A	G	2: 87,821,334 (GRCm39)	N293S	probably damaging	Het
Otof	A	G	5: 30,536,876 (GRCm39)		probably null	Het
Pah	G	T	10: 87,414,175 (GRCm39)	K341N	probably damaging	Het
Pfdn5	T	A	15: 102,236,946 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,216,202 (GRCm39)	C960R	probably damaging	Het
Pitx2	T	C	3: 129,012,488 (GRCm39)	V306A	probably damaging	Het
Pkd1l2	C	A	8: 117,792,236 (GRCm39)		probably benign	Het
Plekho1	T	C	3: 95,896,878 (GRCm39)	E197G	probably damaging	Het
Polr2i	A	G	7: 29,932,227 (GRCm39)	N34S	probably damaging	Het
Psph	A	T	5: 129,848,614 (GRCm39)	D22E	probably damaging	Het
Ptprs	C	A	17: 56,731,128 (GRCm39)	A687S	probably damaging	Het
Ralgapa1	T	C	12: 55,788,265 (GRCm39)	K606R	probably benign	Het
Rigi	A	G	4: 40,208,868 (GRCm39)	V703A	possibly damaging	Het
Rims1	A	G	1: 22,577,362 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,576 (GRCm39)	P2002L	probably damaging	Het
Ryr3	A	T	2: 112,740,307 (GRCm39)	C555S	probably damaging	Het
Sftpd	C	A	14: 40,894,384 (GRCm39)	G345V	probably damaging	Het
Slc41a1	T	A	1: 131,774,319 (GRCm39)	M462K	probably damaging	Het
Slc44a2	A	G	9: 21,264,990 (GRCm39)	E676G	probably damaging	Het
Sox6	T	A	7: 115,300,926 (GRCm39)		probably benign	Het
Spdye4b	G	A	5: 143,181,472 (GRCm39)	R109Q	probably damaging	Het
Spef1l	C	A	7: 139,556,555 (GRCm39)	R144L	probably benign	Het
Spink8	A	T	9: 109,649,706 (GRCm39)	I63L	probably damaging	Het
St3gal3	A	G	4: 117,871,983 (GRCm39)	L73P	probably damaging	Het
Stab1	A	G	14: 30,871,818 (GRCm39)	L1247P	probably benign	Het
Tat	A	G	8: 110,718,195 (GRCm39)	R27G	probably benign	Het
Tcerg1l	C	T	7: 137,881,804 (GRCm39)	R295H	probably damaging	Het
Tfrc	T	C	16: 32,445,467 (GRCm39)	V596A	probably damaging	Het
Tgfb3	C	T	12: 86,116,120 (GRCm39)		probably null	Het
Tmed5	A	T	5: 108,280,248 (GRCm39)	S15T	probably benign	Het
Tph1	A	T	7: 46,303,286 (GRCm39)	S231T	probably benign	Het
Trim30d	G	A	7: 104,121,701 (GRCm39)	S198L	probably damaging	Het
Trpm6	T	C	19: 18,773,859 (GRCm39)	M412T	probably benign	Het
Ttn	G	T	2: 76,612,589 (GRCm39)	D15417E	probably benign	Het
U2surp	A	G	9: 95,375,251 (GRCm39)	I157T	possibly damaging	Het
Ubr4	A	G	4: 139,156,890 (GRCm39)	D2305G	probably damaging	Het
Uvssa	A	G	5: 33,546,165 (GRCm39)	K179E	probably benign	Het
Vps35l	T	C	7: 118,359,436 (GRCm39)	F230S	probably damaging	Het
Xirp2	A	G	2: 67,355,411 (GRCm39)	K3391E	probably benign	Het
Xpo7	T	A	14: 70,936,473 (GRCm39)	H170L	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,404 (GRCm39)	W393R	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
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	100,311,124 (GRCm39)	missense	probably benign	0.27
R5579:Cntnap5b	UTSW	1	100,311,120 (GRCm39)	nonsense	probably null
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
R9131:Cntnap5b	UTSW	1	99,978,368 (GRCm39)	missense	probably benign	0.22
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'- CCTCACTGGAGGAAGTTATGAAAGCG -3'
(R):5'- TCCTTACCCAAGTTCAGGTATAGGGC -3'

Sequencing Primer
(F):5'- ATGAAAGCGCCCTTGTAGGTC -3'
(R):5'- GCTAGTCTTCCATTCTGGAGC -3'

Posted On

2014-03-28