Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Pcdh18'

438248

Institutional Source

Beutler Lab

Gene Symbol

Pcdh18

Ensembl Gene

ENSMUSG00000037892

Gene Name

protocadherin 18

Synonyms

PCDH68L

MMRRC Submission

043267-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49743296-49757325 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49744977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1012 (Q1012R)

Ref Sequence

ENSEMBL: ENSMUSP00000039245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035931] [ENSMUST00000191794]

AlphaFold

Q8VHR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035931
AA Change: Q1012R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: Q1012R

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
CA	51	135	1.36e-1	SMART
CA	159	244	3.78e-20	SMART
CA	268	352	1.12e-22	SMART
CA	382	463	5.76e-25	SMART
CA	487	574	2.51e-25	SMART
CA	603	684	8e-3	SMART
transmembrane domain	698	720	N/A	INTRINSIC
low complexity region	772	783	N/A	INTRINSIC
low complexity region	988	1009	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191794

SMART Domains

Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	51	135	6.6e-4	SMART
CA	159	244	1.9e-22	SMART
CA	268	352	5.6e-25	SMART
CA	382	463	2.7e-27	SMART
CA	487	574	1.2e-27	SMART
CA	603	684	3.9e-5	SMART
transmembrane domain	698	720	N/A	INTRINSIC
low complexity region	772	783	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193600

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,700,275	S345P	probably benign	Het
6430573F11Rik	T	C	8: 36,512,041	V266A	probably benign	Het
Abca3	G	T	17: 24,376,729	C352F	probably damaging	Het
Abce1	A	T	8: 79,700,586	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,061,099	D421G	probably benign	Het
Adam8	T	A	7: 139,988,984	Y201F	probably benign	Het
Adgrf1	T	A	17: 43,311,064	C731S	probably damaging	Het
AF067063	T	A	13: 119,828,415	M82L	probably benign	Het
Akap8l	A	T	17: 32,321,942	I529N	probably damaging	Het
Akap9	G	A	5: 4,064,714	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,162,932	D158E	probably benign	Het
Ankrd11	A	G	8: 122,884,231	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,590,182	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,587,675	I786T	probably benign	Het
Arhgef12	C	T	9: 43,010,193	G329R	probably benign	Het
Btnl1	T	C	17: 34,381,552		probably null	Het
Ccdc174	A	G	6: 91,881,350		probably null	Het
Ccdc183	T	C	2: 25,615,422	D177G	possibly damaging	Het
Cd14	A	G	18: 36,726,235	Y56H	probably benign	Het
Cep162	G	A	9: 87,203,671	A1200V	probably benign	Het
Clic3	T	C	2: 25,458,307	L128P	probably damaging	Het
Cntnap5b	A	T	1: 100,383,395	R538*	probably null	Het
Cntnap5b	A	T	1: 100,383,399	Q539L	probably benign	Het
Coq7	A	T	7: 118,517,335	N214K	unknown	Het
Cramp1l	G	A	17: 24,973,113	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,304,806	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,715,327	R132*	probably null	Het
Dis3l	C	A	9: 64,330,835	C125F	probably benign	Het
Dnmt1	A	T	9: 20,920,205	V543D	probably damaging	Het
Dock9	A	T	14: 121,599,695	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,137,846	S413T	probably damaging	Het
Endov	A	G	11: 119,505,097	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802	V469A	possibly damaging	Het
Etf1	G	A	18: 34,913,601	P119S	probably damaging	Het
Fam135a	A	G	1: 24,029,727	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,560,051		probably null	Het
Fank1	T	A	7: 133,869,329		probably null	Het
Fbxo18	A	G	2: 11,748,993	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,414,066	T397A	probably benign	Het
Gga1	T	C	15: 78,893,188	V513A	probably damaging	Het
Ggt1	T	C	10: 75,585,948	V543A	probably damaging	Het
Gm11596	A	T	11: 99,792,891	C134*	probably null	Het
Gnal	C	T	18: 67,088,771	R82C	unknown	Het
Hat1	T	C	2: 71,410,238	V92A	possibly damaging	Het
Icosl	C	T	10: 78,073,763	R181C	probably damaging	Het
Ift46	A	G	9: 44,786,863	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,788,599	K42E	possibly damaging	Het
Ipo5	A	G	14: 120,938,613	K617E	probably benign	Het
Irx5	A	G	8: 92,359,913	D208G	probably benign	Het
Itgal	T	G	7: 127,306,929	V397G	probably benign	Het
Itpr2	G	A	6: 146,173,366	R2297*	probably null	Het
Itpr3	A	G	17: 27,113,519	D1779G	probably damaging	Het
Krt4	T	A	15: 101,921,234	E286D	probably benign	Het
Loxl4	C	T	19: 42,604,290	G317E	probably damaging	Het
Mapk6	T	G	9: 75,388,062	H718P	possibly damaging	Het
Mark2	A	C	19: 7,282,816	V14G	probably damaging	Het
Mbd5	A	G	2: 49,272,814	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,632,293	E482G	probably benign	Het
Mme	G	A	3: 63,348,645	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,585,483	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,291,333	F430I	probably damaging	Het
Myo6	A	G	9: 80,217,720	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,406,677	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,380,704	F235Y	possibly damaging	Het
Nmur2	A	T	11: 56,033,009	S240T	probably benign	Het
Olfr1176	A	T	2: 88,340,413	I283F	possibly damaging	Het
Olfr301	T	A	7: 86,412,726	Y121*	probably null	Het
Olfr608	G	A	7: 103,470,914	V292M	probably damaging	Het
Osbpl1a	G	T	18: 12,841,192	A62E	probably damaging	Het
Osbpl1a	A	C	18: 12,892,262	S333A	probably benign	Het
Otud4	C	T	8: 79,664,108	T417I	probably benign	Het
Pagr1a	T	C	7: 127,015,442	E197G	probably damaging	Het
Pcdhgb5	A	C	18: 37,731,637	I162L	probably benign	Het
Pdpr	T	A	8: 111,123,816	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,523,142	H1582Q	probably damaging	Het
Polr1b	A	G	2: 129,110,108	K352R	probably damaging	Het
Poteg	G	A	8: 27,448,037	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,915,162	V54G	probably damaging	Het
Ppme1	A	G	7: 100,344,975	L177P	probably damaging	Het
Prkce	A	G	17: 86,619,948	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,680,758		probably null	Het
Ptpn22	A	G	3: 103,882,139		probably null	Het
Rabif	G	A	1: 134,506,205	V86M	probably damaging	Het
Rbm25	T	A	12: 83,668,507	M484K	probably benign	Het
Rcn2	G	A	9: 56,057,429	A224T	probably benign	Het
Rexo5	T	A	7: 119,834,403		probably null	Het
Rnase1	A	T	14: 51,145,762	I45N	probably benign	Het
Rnmt	T	A	18: 68,306,115	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,785,059	F188L	probably damaging	Het
Scube2	G	A	7: 109,810,737	T643M	probably damaging	Het
Slc7a15	T	C	12: 8,539,344	I68V	probably benign	Het
Slco1a5	A	T	6: 142,242,125	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,751,217	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,295,125	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,494,087	S166P	probably benign	Het
Tecpr1	C	A	5: 144,214,344	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,236,764	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,911,025	F412C	probably damaging	Het
Timm17a	A	T	1: 135,306,188	S74T	possibly damaging	Het
Tle1	A	T	4: 72,139,808	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,796,000	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,794,397	N115S	probably benign	Het
Trmt5	C	A	12: 73,281,652	R259L	possibly damaging	Het
Ttc37	T	C	13: 76,185,200	W25R	probably damaging	Het
Vmn2r50	A	T	7: 10,050,089	W153R	probably benign	Het
Vwa3a	T	G	7: 120,768,173	S184A	probably benign	Het
Zbtb25	A	G	12: 76,349,164	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,200,816	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,340,735	D35E	probably damaging	Het
Zfp316	T	C	5: 143,264,491	T56A	unknown	Het
Zfp334	A	T	2: 165,380,487	C545*	probably null	Het
Zmiz1	C	A	14: 25,644,856	S247R	probably damaging	Het
Zscan18	A	G	7: 12,775,381		probably benign	Het
Zzef1	T	C	11: 72,900,637	V2189A	probably damaging	Het

Other mutations in Pcdh18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Pcdh18	APN	3	49753379	missense	probably damaging	1.00
IGL00639:Pcdh18	APN	3	49755616	missense	probably benign	0.34
IGL00954:Pcdh18	APN	3	49756389	missense	probably damaging	1.00
IGL01338:Pcdh18	APN	3	49756141	missense	probably damaging	1.00
IGL01339:Pcdh18	APN	3	49755798	missense	probably benign	0.35
IGL01687:Pcdh18	APN	3	49753533	splice site	probably benign
IGL01727:Pcdh18	APN	3	49755700	missense	probably damaging	0.99
IGL01788:Pcdh18	APN	3	49755922	nonsense	probably null
IGL01824:Pcdh18	APN	3	49754774	missense	probably damaging	1.00
IGL01834:Pcdh18	APN	3	49756830	missense	probably benign	0.03
IGL01913:Pcdh18	APN	3	49755249	missense	possibly damaging	0.94
IGL01915:Pcdh18	APN	3	49744921	missense	probably benign
IGL02095:Pcdh18	APN	3	49756156	missense	probably benign	0.01
IGL02128:Pcdh18	APN	3	49756686	missense	possibly damaging	0.65
IGL02302:Pcdh18	APN	3	49755938	missense	probably benign
IGL02342:Pcdh18	APN	3	49756044	missense	probably damaging	1.00
IGL02440:Pcdh18	APN	3	49744603	utr 3 prime	probably benign
IGL02499:Pcdh18	APN	3	49753447	missense	probably benign	0.15
IGL02570:Pcdh18	APN	3	49756625	missense	probably benign	0.02
IGL02745:Pcdh18	APN	3	49755891	missense	probably damaging	1.00
IGL03073:Pcdh18	APN	3	49753367	missense	possibly damaging	0.93
PIT4469001:Pcdh18	UTSW	3	49755069	missense	probably benign
R0078:Pcdh18	UTSW	3	49756344	missense	probably damaging	1.00
R0196:Pcdh18	UTSW	3	49756698	splice site	probably null
R0524:Pcdh18	UTSW	3	49755642	missense	probably damaging	0.98
R0661:Pcdh18	UTSW	3	49753318	missense	possibly damaging	0.64
R0900:Pcdh18	UTSW	3	49756803	missense	probably benign	0.25
R1101:Pcdh18	UTSW	3	49753379	missense	probably damaging	1.00
R1463:Pcdh18	UTSW	3	49755405	missense	probably damaging	0.99
R1778:Pcdh18	UTSW	3	49755634	missense	probably benign	0.19
R1850:Pcdh18	UTSW	3	49756405	missense	probably benign	0.22
R1875:Pcdh18	UTSW	3	49754705	missense	probably damaging	0.99
R1903:Pcdh18	UTSW	3	49755447	missense	probably benign
R1956:Pcdh18	UTSW	3	49755951	missense	probably benign
R2044:Pcdh18	UTSW	3	49754940	missense	probably benign
R2303:Pcdh18	UTSW	3	49755274	missense	probably damaging	1.00
R3732:Pcdh18	UTSW	3	49754791	missense	probably benign
R3732:Pcdh18	UTSW	3	49754791	missense	probably benign
R3733:Pcdh18	UTSW	3	49754791	missense	probably benign
R3973:Pcdh18	UTSW	3	49754586	missense	probably damaging	1.00
R4281:Pcdh18	UTSW	3	49756533	missense	possibly damaging	0.76
R4601:Pcdh18	UTSW	3	49744725	missense	probably damaging	1.00
R4631:Pcdh18	UTSW	3	49756441	missense	probably damaging	0.99
R4752:Pcdh18	UTSW	3	49755114	missense	probably damaging	1.00
R4840:Pcdh18	UTSW	3	49744668	missense	probably damaging	0.98
R4867:Pcdh18	UTSW	3	49754664	missense	probably damaging	1.00
R5007:Pcdh18	UTSW	3	49754457	missense	probably benign	0.23
R5039:Pcdh18	UTSW	3	49754856	missense	probably benign
R5169:Pcdh18	UTSW	3	49755966	missense	possibly damaging	0.65
R5438:Pcdh18	UTSW	3	49756016	nonsense	probably null
R6000:Pcdh18	UTSW	3	49754464	missense	probably damaging	0.99
R6220:Pcdh18	UTSW	3	49745251	missense	probably damaging	1.00
R6737:Pcdh18	UTSW	3	49755895	missense	probably damaging	0.98
R6789:Pcdh18	UTSW	3	49755915	missense	probably benign	0.00
R7011:Pcdh18	UTSW	3	49754782	missense	probably benign
R7146:Pcdh18	UTSW	3	49755822	missense	probably damaging	1.00
R7150:Pcdh18	UTSW	3	49754694	missense	probably benign	0.31
R7205:Pcdh18	UTSW	3	49755474	missense	probably benign
R7326:Pcdh18	UTSW	3	49756860	missense	probably benign
R7413:Pcdh18	UTSW	3	49744783	missense	possibly damaging	0.94
R7755:Pcdh18	UTSW	3	49754829	missense	possibly damaging	0.59
R7848:Pcdh18	UTSW	3	49755997	missense	possibly damaging	0.54
R8169:Pcdh18	UTSW	3	49745235	missense	probably damaging	1.00
R8264:Pcdh18	UTSW	3	49756581	missense	probably damaging	1.00
R8352:Pcdh18	UTSW	3	49745175	missense	possibly damaging	0.81
R8406:Pcdh18	UTSW	3	49756549	missense	probably damaging	1.00
R8452:Pcdh18	UTSW	3	49745175	missense	possibly damaging	0.81
R8489:Pcdh18	UTSW	3	49754589	missense	probably damaging	1.00
R8526:Pcdh18	UTSW	3	49755574	missense	probably damaging	1.00
R9075:Pcdh18	UTSW	3	49744890	missense	probably benign
R9285:Pcdh18	UTSW	3	49753337	missense	probably damaging	0.97
R9316:Pcdh18	UTSW	3	49754640	missense	probably damaging	1.00
R9339:Pcdh18	UTSW	3	49754886	missense	probably damaging	1.00
R9410:Pcdh18	UTSW	3	49745166	missense	probably damaging	1.00
R9425:Pcdh18	UTSW	3	49754602	missense	possibly damaging	0.81
R9432:Pcdh18	UTSW	3	49745218	missense	probably damaging	0.96
R9547:Pcdh18	UTSW	3	49755057	missense	possibly damaging	0.79
R9567:Pcdh18	UTSW	3	49756435	missense	possibly damaging	0.95
R9622:Pcdh18	UTSW	3	49756780	missense	probably benign	0.20
R9687:Pcdh18	UTSW	3	49756587	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAGAGTGAGTCCCCAGAG -3'
(R):5'- AGCAACATGTTCATCCCCGG -3'

Sequencing Primer
(F):5'- AGAGGGGTCCCAGAGCTG -3'
(R):5'- TGTTCATCCCCGGAGAAGAATTC -3'

Posted On

2016-10-26