Mutagenetix > Incidental Mutation

Incidental Mutation 'R0900:Pcdh18'

83825

Institutional Source

Beutler Lab

Gene Symbol

Pcdh18

Ensembl Gene

ENSMUSG00000037892

Gene Name

protocadherin 18

Synonyms

PCDH68L

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0900 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49697745-49711723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49711252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 21 (F21Y)

Ref Sequence

ENSEMBL: ENSMUSP00000039245 (fasta)

Gene Model

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

AlphaFold

Q8VHR0

Predicted Effect

probably benign
Transcript: ENSMUST00000035931
AA Change: F21Y

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: F21Y

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
AA Change: F21Y

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: F21Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195086

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,904,359 (GRCm39)	F144I	probably damaging	Het
Als2cl	A	G	9: 110,719,496 (GRCm39)	R468G	possibly damaging	Het
Arsk	C	A	13: 76,246,576 (GRCm39)		probably benign	Het
Cacna1d	T	C	14: 29,833,039 (GRCm39)	H912R	probably damaging	Het
Ccr1	A	T	9: 123,764,371 (GRCm39)	V53D	possibly damaging	Het
Cfap91	G	A	16: 38,156,764 (GRCm39)	S47L	possibly damaging	Het
Clec2d	G	A	6: 129,160,076 (GRCm39)	R30K	probably benign	Het
Col12a1	A	G	9: 79,591,535 (GRCm39)	V975A	possibly damaging	Het
Col4a1	AGCCAGGGATGCCAGG	AGCCAGG	8: 11,268,014 (GRCm39)		probably benign	Het
Cul7	T	C	17: 46,969,263 (GRCm39)	S907P	probably benign	Het
Depdc1b	A	T	13: 108,498,794 (GRCm39)	H159L	possibly damaging	Het
Dhx57	T	C	17: 80,583,011 (GRCm39)	H198R	probably benign	Het
Dpp7	T	C	2: 25,246,311 (GRCm39)	D10G	probably damaging	Het
Esp18	G	A	17: 39,719,023 (GRCm39)	M7I	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fam167a	A	G	14: 63,689,828 (GRCm39)	T42A	probably damaging	Het
Gm973	A	G	1: 59,605,827 (GRCm39)	R553G	probably benign	Het
Ift140	T	A	17: 25,254,786 (GRCm39)	I422N	probably benign	Het
Jag1	CTTT	CTTTT	2: 136,932,802 (GRCm39)		probably null	Het
Limk2	A	G	11: 3,300,731 (GRCm39)	F204L	probably damaging	Het
Lmo7	A	G	14: 102,124,624 (GRCm39)	D361G	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Or52e2	T	A	7: 102,804,520 (GRCm39)	M145L	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcna-ps2	T	A	19: 9,261,487 (GRCm39)	Y249N	probably damaging	Het
Prkce	A	T	17: 86,932,886 (GRCm39)	D622V	probably damaging	Het
Prss47	A	C	13: 65,197,208 (GRCm39)	V176G	possibly damaging	Het
Prss55	C	T	14: 64,314,627 (GRCm39)	R181H	probably benign	Het
Prtg	A	T	9: 72,752,225 (GRCm39)	I204L	probably benign	Het
Pura	T	C	18: 36,420,720 (GRCm39)	I169T	probably damaging	Het
Rttn	C	T	18: 89,119,815 (GRCm39)	T1750I	probably benign	Het
Slc25a26	T	A	6: 94,484,639 (GRCm39)	S60T	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem94	T	A	11: 115,682,804 (GRCm39)	C614S	probably benign	Het
Trim12a	T	C	7: 103,953,469 (GRCm39)	N214S	probably benign	Het
Ube3c	T	C	5: 29,806,344 (GRCm39)	Y329H	probably benign	Het
Ubxn2a	T	C	12: 4,952,257 (GRCm39)	K2E	probably damaging	Het
Unc80	A	T	1: 66,710,757 (GRCm39)	E2675D	probably benign	Het
Usf3	C	T	16: 44,036,321 (GRCm39)	P267L	probably benign	Het
Vmn1r129	A	T	7: 21,094,635 (GRCm39)	Y194*	probably null	Het
Zfp750	T	C	11: 121,403,807 (GRCm39)	E356G	probably benign	Het

Other mutations in Pcdh18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Pcdh18	APN	3	49,707,828 (GRCm39)	missense	probably damaging	1.00
IGL00639:Pcdh18	APN	3	49,710,065 (GRCm39)	missense	probably benign	0.34
IGL00954:Pcdh18	APN	3	49,710,838 (GRCm39)	missense	probably damaging	1.00
IGL01338:Pcdh18	APN	3	49,710,590 (GRCm39)	missense	probably damaging	1.00
IGL01339:Pcdh18	APN	3	49,710,247 (GRCm39)	missense	probably benign	0.35
IGL01687:Pcdh18	APN	3	49,707,982 (GRCm39)	splice site	probably benign
IGL01727:Pcdh18	APN	3	49,710,149 (GRCm39)	missense	probably damaging	0.99
IGL01788:Pcdh18	APN	3	49,710,371 (GRCm39)	nonsense	probably null
IGL01824:Pcdh18	APN	3	49,709,223 (GRCm39)	missense	probably damaging	1.00
IGL01834:Pcdh18	APN	3	49,711,279 (GRCm39)	missense	probably benign	0.03
IGL01913:Pcdh18	APN	3	49,709,698 (GRCm39)	missense	possibly damaging	0.94
IGL01915:Pcdh18	APN	3	49,699,370 (GRCm39)	missense	probably benign
IGL02095:Pcdh18	APN	3	49,710,605 (GRCm39)	missense	probably benign	0.01
IGL02128:Pcdh18	APN	3	49,711,135 (GRCm39)	missense	possibly damaging	0.65
IGL02302:Pcdh18	APN	3	49,710,387 (GRCm39)	missense	probably benign
IGL02342:Pcdh18	APN	3	49,710,493 (GRCm39)	missense	probably damaging	1.00
IGL02440:Pcdh18	APN	3	49,699,052 (GRCm39)	utr 3 prime	probably benign
IGL02499:Pcdh18	APN	3	49,707,896 (GRCm39)	missense	probably benign	0.15
IGL02570:Pcdh18	APN	3	49,711,074 (GRCm39)	missense	probably benign	0.02
IGL02745:Pcdh18	APN	3	49,710,340 (GRCm39)	missense	probably damaging	1.00
IGL03073:Pcdh18	APN	3	49,707,816 (GRCm39)	missense	possibly damaging	0.93
PIT4469001:Pcdh18	UTSW	3	49,709,518 (GRCm39)	missense	probably benign
R0078:Pcdh18	UTSW	3	49,710,793 (GRCm39)	missense	probably damaging	1.00
R0196:Pcdh18	UTSW	3	49,711,147 (GRCm39)	splice site	probably null
R0524:Pcdh18	UTSW	3	49,710,091 (GRCm39)	missense	probably damaging	0.98
R0661:Pcdh18	UTSW	3	49,707,767 (GRCm39)	missense	possibly damaging	0.64
R1101:Pcdh18	UTSW	3	49,707,828 (GRCm39)	missense	probably damaging	1.00
R1463:Pcdh18	UTSW	3	49,709,854 (GRCm39)	missense	probably damaging	0.99
R1778:Pcdh18	UTSW	3	49,710,083 (GRCm39)	missense	probably benign	0.19
R1850:Pcdh18	UTSW	3	49,710,854 (GRCm39)	missense	probably benign	0.22
R1875:Pcdh18	UTSW	3	49,709,154 (GRCm39)	missense	probably damaging	0.99
R1903:Pcdh18	UTSW	3	49,709,896 (GRCm39)	missense	probably benign
R1956:Pcdh18	UTSW	3	49,710,400 (GRCm39)	missense	probably benign
R2044:Pcdh18	UTSW	3	49,709,389 (GRCm39)	missense	probably benign
R2303:Pcdh18	UTSW	3	49,709,723 (GRCm39)	missense	probably damaging	1.00
R3732:Pcdh18	UTSW	3	49,709,240 (GRCm39)	missense	probably benign
R3732:Pcdh18	UTSW	3	49,709,240 (GRCm39)	missense	probably benign
R3733:Pcdh18	UTSW	3	49,709,240 (GRCm39)	missense	probably benign
R3973:Pcdh18	UTSW	3	49,709,035 (GRCm39)	missense	probably damaging	1.00
R4281:Pcdh18	UTSW	3	49,710,982 (GRCm39)	missense	possibly damaging	0.76
R4601:Pcdh18	UTSW	3	49,699,174 (GRCm39)	missense	probably damaging	1.00
R4631:Pcdh18	UTSW	3	49,710,890 (GRCm39)	missense	probably damaging	0.99
R4752:Pcdh18	UTSW	3	49,709,563 (GRCm39)	missense	probably damaging	1.00
R4840:Pcdh18	UTSW	3	49,699,117 (GRCm39)	missense	probably damaging	0.98
R4867:Pcdh18	UTSW	3	49,709,113 (GRCm39)	missense	probably damaging	1.00
R5007:Pcdh18	UTSW	3	49,708,906 (GRCm39)	missense	probably benign	0.23
R5039:Pcdh18	UTSW	3	49,709,305 (GRCm39)	missense	probably benign
R5169:Pcdh18	UTSW	3	49,710,415 (GRCm39)	missense	possibly damaging	0.65
R5438:Pcdh18	UTSW	3	49,710,465 (GRCm39)	nonsense	probably null
R5579:Pcdh18	UTSW	3	49,699,426 (GRCm39)	missense	probably damaging	1.00
R6000:Pcdh18	UTSW	3	49,708,913 (GRCm39)	missense	probably damaging	0.99
R6220:Pcdh18	UTSW	3	49,699,700 (GRCm39)	missense	probably damaging	1.00
R6737:Pcdh18	UTSW	3	49,710,344 (GRCm39)	missense	probably damaging	0.98
R6789:Pcdh18	UTSW	3	49,710,364 (GRCm39)	missense	probably benign	0.00
R7011:Pcdh18	UTSW	3	49,709,231 (GRCm39)	missense	probably benign
R7146:Pcdh18	UTSW	3	49,710,271 (GRCm39)	missense	probably damaging	1.00
R7150:Pcdh18	UTSW	3	49,709,143 (GRCm39)	missense	probably benign	0.31
R7205:Pcdh18	UTSW	3	49,709,923 (GRCm39)	missense	probably benign
R7326:Pcdh18	UTSW	3	49,711,309 (GRCm39)	missense	probably benign
R7413:Pcdh18	UTSW	3	49,699,232 (GRCm39)	missense	possibly damaging	0.94
R7755:Pcdh18	UTSW	3	49,709,278 (GRCm39)	missense	possibly damaging	0.59
R7848:Pcdh18	UTSW	3	49,710,446 (GRCm39)	missense	possibly damaging	0.54
R8169:Pcdh18	UTSW	3	49,699,684 (GRCm39)	missense	probably damaging	1.00
R8264:Pcdh18	UTSW	3	49,711,030 (GRCm39)	missense	probably damaging	1.00
R8352:Pcdh18	UTSW	3	49,699,624 (GRCm39)	missense	possibly damaging	0.81
R8406:Pcdh18	UTSW	3	49,710,998 (GRCm39)	missense	probably damaging	1.00
R8452:Pcdh18	UTSW	3	49,699,624 (GRCm39)	missense	possibly damaging	0.81
R8489:Pcdh18	UTSW	3	49,709,038 (GRCm39)	missense	probably damaging	1.00
R8526:Pcdh18	UTSW	3	49,710,023 (GRCm39)	missense	probably damaging	1.00
R9075:Pcdh18	UTSW	3	49,699,339 (GRCm39)	missense	probably benign
R9285:Pcdh18	UTSW	3	49,707,786 (GRCm39)	missense	probably damaging	0.97
R9316:Pcdh18	UTSW	3	49,709,089 (GRCm39)	missense	probably damaging	1.00
R9339:Pcdh18	UTSW	3	49,709,335 (GRCm39)	missense	probably damaging	1.00
R9410:Pcdh18	UTSW	3	49,699,615 (GRCm39)	missense	probably damaging	1.00
R9425:Pcdh18	UTSW	3	49,709,051 (GRCm39)	missense	possibly damaging	0.81
R9432:Pcdh18	UTSW	3	49,699,667 (GRCm39)	missense	probably damaging	0.96
R9547:Pcdh18	UTSW	3	49,709,506 (GRCm39)	missense	possibly damaging	0.79
R9567:Pcdh18	UTSW	3	49,710,884 (GRCm39)	missense	possibly damaging	0.95
R9622:Pcdh18	UTSW	3	49,711,229 (GRCm39)	missense	probably benign	0.20
R9687:Pcdh18	UTSW	3	49,711,036 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGCATGGCTCGAAAACGAAC -3'
(R):5'- AGGAAGGGACTTCACGCTCCTATC -3'

Sequencing Primer
(F):5'- ACAGCAGAAGGATTTGGTAGC -3'
(R):5'- GAGTCGCTTTCAAGACTCTGAG -3'

Posted On

2013-11-08