Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Pcdh20'

277021

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

C630015B17Rik, PCDH13

MMRRC Submission

040779-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88464743-88471396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88468463 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 467 (N467S)

Ref Sequence

ENSEMBL: ENSMUSP00000141860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061628] [ENSMUST00000192557]

Predicted Effect

probably benign
Transcript: ENSMUST00000061628
AA Change: N467S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: N467S

Domain	Start	End	E-Value	Type
CA	108	208	9.02e-1	SMART
CA	233	319	6.63e-16	SMART
CA	343	425	9.94e-2	SMART
CA	455	534	7.48e-3	SMART
CA	558	638	5.46e-26	SMART
CA	662	741	7.2e-26	SMART
CA	768	852	9.6e-13	SMART
low complexity region	860	871	N/A	INTRINSIC
transmembrane domain	890	912	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192557
AA Change: N467S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: N467S

Domain	Start	End	E-Value	Type
CA	108	208	9.02e-1	SMART
CA	233	319	6.63e-16	SMART
CA	343	425	9.94e-2	SMART
CA	455	534	7.48e-3	SMART
CA	558	638	5.46e-26	SMART
CA	662	741	7.2e-26	SMART
CA	768	852	9.6e-13	SMART
low complexity region	860	871	N/A	INTRINSIC
transmembrane domain	890	912	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in cell adhesion in the nervous system and has been shown to be specifically expressed in newly differentiated olfactory sensory neurons and their axons during development. In adult mice, the expression of this protein in the olfactory system is more restricted but shows a gender difference with higher expression in the male than in the female. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	Het

Other mutations in Pcdh20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Pcdh20	APN	14	88467881	missense	possibly damaging	0.65
IGL01112:Pcdh20	APN	14	88467200	missense	probably benign	0.01
IGL01586:Pcdh20	APN	14	88470908	missense	probably benign	0.37
IGL02007:Pcdh20	APN	14	88469595	missense	probably benign	0.09
IGL02545:Pcdh20	APN	14	88468844	missense	possibly damaging	0.74
IGL02935:Pcdh20	APN	14	88467002	utr 3 prime	probably benign
PIT4362001:Pcdh20	UTSW	14	88467026	missense	probably damaging	0.97
PIT4403001:Pcdh20	UTSW	14	88467026	missense	probably damaging	0.97
PIT4453001:Pcdh20	UTSW	14	88467308	missense	probably damaging	1.00
R0322:Pcdh20	UTSW	14	88468947	missense	probably benign	0.24
R0372:Pcdh20	UTSW	14	88469003	missense	probably damaging	1.00
R0391:Pcdh20	UTSW	14	88468668	missense	probably benign
R0575:Pcdh20	UTSW	14	88467612	missense	probably damaging	1.00
R0789:Pcdh20	UTSW	14	88468790	missense	probably damaging	1.00
R1370:Pcdh20	UTSW	14	88468301	missense	probably benign	0.00
R1465:Pcdh20	UTSW	14	88469237	missense	probably benign	0.00
R1465:Pcdh20	UTSW	14	88469237	missense	probably benign	0.00
R1664:Pcdh20	UTSW	14	88468322	missense	possibly damaging	0.63
R1677:Pcdh20	UTSW	14	88467974	missense	probably damaging	1.00
R1764:Pcdh20	UTSW	14	88469184	missense	possibly damaging	0.77
R1907:Pcdh20	UTSW	14	88468704	missense	probably benign	0.01
R2043:Pcdh20	UTSW	14	88467155	missense	probably benign	0.01
R2430:Pcdh20	UTSW	14	88467548	missense	probably damaging	1.00
R2471:Pcdh20	UTSW	14	88467236	missense	probably benign	0.00
R4163:Pcdh20	UTSW	14	88468179	missense	probably damaging	1.00
R4472:Pcdh20	UTSW	14	88468998	missense	probably benign	0.21
R4602:Pcdh20	UTSW	14	88468430	missense	probably damaging	1.00
R4681:Pcdh20	UTSW	14	88467616	missense	probably damaging	1.00
R4918:Pcdh20	UTSW	14	88467668	missense	probably damaging	1.00
R4921:Pcdh20	UTSW	14	88469726	missense	probably benign	0.01
R5204:Pcdh20	UTSW	14	88468915	missense	probably damaging	1.00
R5256:Pcdh20	UTSW	14	88468377	missense	probably benign
R5652:Pcdh20	UTSW	14	88467324	missense	probably damaging	1.00
R5815:Pcdh20	UTSW	14	88470876	missense	probably benign	0.03
R6195:Pcdh20	UTSW	14	88468052	missense	probably benign	0.39
R6233:Pcdh20	UTSW	14	88468052	missense	probably benign	0.39
R6848:Pcdh20	UTSW	14	88467254	missense	probably benign	0.03
R6913:Pcdh20	UTSW	14	88468602	missense	probably benign
R7044:Pcdh20	UTSW	14	88469171	missense	probably damaging	0.98
R7224:Pcdh20	UTSW	14	88469075	missense	possibly damaging	0.85
R7388:Pcdh20	UTSW	14	88468667	missense	probably benign	0.33
R7486:Pcdh20	UTSW	14	88468614	missense	possibly damaging	0.79
R7651:Pcdh20	UTSW	14	88469153	missense	probably damaging	1.00
R7664:Pcdh20	UTSW	14	88469367	missense	probably benign
R7706:Pcdh20	UTSW	14	88467357	missense	probably damaging	1.00
R7832:Pcdh20	UTSW	14	88469707	missense	probably null	0.02
R7892:Pcdh20	UTSW	14	88467431	nonsense	probably null
R7915:Pcdh20	UTSW	14	88469707	missense	probably null	0.02
R7975:Pcdh20	UTSW	14	88467431	nonsense	probably null
X0028:Pcdh20	UTSW	14	88467617	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGGGCATTGTCATTGTC -3'
(R):5'- AATGGACCTGGCTGTATCCCTG -3'

Sequencing Primer
(F):5'- GGCATTGTCATTGTCGTCTAAAAG -3'
(R):5'- GGCTGTATCCCTGCAGTGATC -3'

Posted On

2015-04-06