Mutagenetix > Incidental Mutation

Incidental Mutation 'R0661:Pcdh18'

61831

Institutional Source

Beutler Lab

Gene Symbol

Pcdh18

Ensembl Gene

ENSMUSG00000037892

Gene Name

protocadherin 18

Synonyms

PCDH68L

MMRRC Submission

038846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0661 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

49697745-49711723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 49707767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 902 (S902R)

Ref Sequence

ENSEMBL: ENSMUSP00000141995 (fasta)

Gene Model

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

AlphaFold

Q8VHR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035931
AA Change: S901R

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: S901R

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

possibly damaging
Transcript: ENSMUST00000191794
AA Change: S902R

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: S902R

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

unknown
Transcript: ENSMUST00000194603
AA Change: S434R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195086

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	T	A	3: 20,370,163 (GRCm39)	T148S	possibly damaging	Het
Anks3	A	G	16: 4,766,198 (GRCm39)	F124L	probably damaging	Het
Ar	T	A	X: 97,194,171 (GRCm39)	Y262N	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Brip1	A	T	11: 86,001,189 (GRCm39)	I749N	possibly damaging	Het
C1ra	T	A	6: 124,499,336 (GRCm39)	H507Q	probably benign	Het
Cdk9	G	A	2: 32,599,832 (GRCm39)	T135I	probably damaging	Het
Col1a1	A	G	11: 94,840,215 (GRCm39)	T1088A	unknown	Het
Cpne2	T	C	8: 95,282,667 (GRCm39)	I283T	possibly damaging	Het
Dcaf17	T	C	2: 70,918,779 (GRCm39)	L451P	probably damaging	Het
Dhx57	C	T	17: 80,576,293 (GRCm39)	C599Y	probably damaging	Het
Drd1	T	A	13: 54,207,057 (GRCm39)	N379Y	possibly damaging	Het
Fsip2	A	G	2: 82,816,513 (GRCm39)	D4082G	possibly damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Heyl	G	T	4: 123,139,824 (GRCm39)	V128F	probably damaging	Het
Hoxd12	A	G	2: 74,506,236 (GRCm39)	E216G	probably damaging	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Invs	G	A	4: 48,421,861 (GRCm39)	R831H	probably benign	Het
Lrrk2	T	C	15: 91,671,219 (GRCm39)	V2000A	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Or5an9	T	C	19: 12,187,068 (GRCm39)	L46P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Prdm15	A	T	16: 97,630,882 (GRCm39)	V190E	probably benign	Het
Ranbp2	T	G	10: 58,314,555 (GRCm39)	S1758R	probably benign	Het
Rimbp2	A	G	5: 128,863,774 (GRCm39)	V738A	probably benign	Het
Rtl5	T	C	X: 101,114,056 (GRCm39)	H138R	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Slf1	A	G	13: 77,231,715 (GRCm39)	W555R	probably benign	Het
Spx	A	G	6: 142,359,565 (GRCm39)	S5G	possibly damaging	Het
Tcp1	T	C	17: 13,142,200 (GRCm39)	V398A	probably benign	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Tsbp1	A	T	17: 34,678,887 (GRCm39)	I217F	possibly damaging	Het
Ufsp2	T	A	8: 46,432,270 (GRCm39)	M1K	probably null	Het
Usf1	G	A	1: 171,245,067 (GRCm39)	R196Q	probably damaging	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Yme1l1	T	A	2: 23,081,054 (GRCm39)	M442K	probably damaging	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTGCTTAGGAGCGCCCAATG -3'
(R):5'- TTCACCAGGGGCAATATCAGCCAC -3'

Sequencing Primer
(F):5'- TTGTCCACTGCTAATAGTGCAGAG -3'
(R):5'- CCAGGAGCTATAGGTATGAATTACCC -3'

Posted On

2013-07-30