Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02745:Pcdh18'

306125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh18

Ensembl Gene

ENSMUSG00000037892

Gene Name

protocadherin 18

Synonyms

PCDH68L

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02745

Quality Score

Status

Chromosome

Chromosomal Location

49697745-49711723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49710340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 325 (Q325L)

Ref Sequence

ENSEMBL: ENSMUSP00000141995 (fasta)

Gene Model

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

AlphaFold

Q8VHR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035931
AA Change: Q325L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: Q325L

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 damaging
Transcript: ENSMUST00000191794
AA Change: Q325L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: Q325L

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,282 (GRCm39)	E167G	probably benign	Het
Aldh1a1	A	G	19: 20,614,028 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,805,950 (GRCm39)	H152R	probably damaging	Het
Bpifb4	T	A	2: 153,789,141 (GRCm39)	L316Q	probably damaging	Het
C2cd5	A	T	6: 142,987,256 (GRCm39)	L155I	probably benign	Het
Chrdl2	T	A	7: 99,670,170 (GRCm39)	C98S	probably damaging	Het
Clnk	A	G	5: 38,893,662 (GRCm39)	S232P	probably benign	Het
Csf3	A	G	11: 98,593,303 (GRCm39)	D140G	probably damaging	Het
Dnah7b	T	A	1: 46,234,189 (GRCm39)		probably benign	Het
Fetub	T	C	16: 22,756,676 (GRCm39)	V259A	probably damaging	Het
Gga2	G	T	7: 121,607,592 (GRCm39)	R108S	probably damaging	Het
Hip1r	C	A	5: 124,129,002 (GRCm39)		probably null	Het
Hsd17b3	A	G	13: 64,234,990 (GRCm39)	F62L	probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Man1a	C	T	10: 53,853,206 (GRCm39)	R304Q	probably damaging	Het
Med17	A	G	9: 15,176,642 (GRCm39)		probably benign	Het
Mrgprb4	T	C	7: 47,848,106 (GRCm39)	Y274C	probably damaging	Het
Myh8	C	T	11: 67,188,327 (GRCm39)	T996I	possibly damaging	Het
Niban3	G	T	8: 72,057,682 (GRCm39)		probably null	Het
Nlrp4e	T	A	7: 23,020,716 (GRCm39)	L401Q	probably damaging	Het
Oas1h	G	A	5: 120,999,542 (GRCm39)	R9Q	probably benign	Het
Or4c111	A	G	2: 88,844,232 (GRCm39)	Y59H	probably damaging	Het
Or4d10b	C	T	19: 12,036,565 (GRCm39)	V184I	probably benign	Het
Or8g51	T	C	9: 38,609,494 (GRCm39)	H56R	probably damaging	Het
Otor	A	G	2: 142,923,076 (GRCm39)	D122G	possibly damaging	Het
Ppfibp1	T	C	6: 146,923,852 (GRCm39)		probably benign	Het
Pramel16	A	T	4: 143,677,294 (GRCm39)	L95Q	probably damaging	Het
Prlr	T	A	15: 10,328,680 (GRCm39)	I385N	possibly damaging	Het
Rap1gds1	A	G	3: 138,662,002 (GRCm39)	V418A	probably damaging	Het
Rdh1	A	T	10: 127,601,288 (GRCm39)	T279S	probably benign	Het
Slc17a3	C	A	13: 24,026,469 (GRCm39)	Q13K	probably benign	Het
Slc22a20	T	C	19: 6,022,901 (GRCm39)	N414S	probably damaging	Het
Slc4a1	C	A	11: 102,247,093 (GRCm39)	C498F	probably damaging	Het
Sp8	G	A	12: 118,813,326 (GRCm39)	G394S	probably damaging	Het
Ssh2	C	T	11: 77,346,233 (GRCm39)	T1406I	probably damaging	Het
Stra6	T	A	9: 58,059,321 (GRCm39)	D561E	probably damaging	Het
Stxbp5l	G	A	16: 37,007,016 (GRCm39)	Q726*	probably null	Het
Synpo2	G	A	3: 122,907,261 (GRCm39)	T685I	probably damaging	Het
Tasor2	A	T	13: 3,635,140 (GRCm39)	S556T	probably benign	Het
Ttc27	A	G	17: 75,046,728 (GRCm39)	D263G	probably benign	Het
Ttn	G	A	2: 76,594,332 (GRCm39)	P18793S	possibly damaging	Het
Vmn2r109	A	G	17: 20,761,512 (GRCm39)	V615A	probably damaging	Het
Vmn2r76	T	G	7: 85,879,495 (GRCm39)	K268N	probably benign	Het
Zeb2	A	G	2: 44,884,487 (GRCm39)		probably benign	Het
Zfp286	C	A	11: 62,671,700 (GRCm39)	K124N	probably damaging	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
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
R0900:Pcdh18	UTSW	3	49,711,252 (GRCm39)	missense	probably benign	0.25
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

Posted On

2015-04-16