Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Pcdh20'

555354

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

C630015B17Rik, PCDH13

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88464743-88471396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88467308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 852 (S852I)

Ref Sequence

ENSEMBL: ENSMUSP00000054774 (fasta)

Gene Model

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

AlphaFold

Q8BIZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000061628
AA Change: S852I

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

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: S852I

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 damaging
Transcript: ENSMUST00000192557
AA Change: S852I

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

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: S852I

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: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	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
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
R3838:Pcdh20	UTSW	14	88468463	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
R8218:Pcdh20	UTSW	14	88468611	missense	probably damaging	0.96
R8545:Pcdh20	UTSW	14	88469165	missense	probably damaging	0.96
R8701:Pcdh20	UTSW	14	88468413	missense	possibly damaging	0.95
R9219:Pcdh20	UTSW	14	88468819	missense	probably benign	0.01
R9238:Pcdh20	UTSW	14	88468754	missense	probably benign	0.43
R9418:Pcdh20	UTSW	14	88468019	missense	probably benign
R9665:Pcdh20	UTSW	14	88469726	missense	probably benign	0.44
X0028:Pcdh20	UTSW	14	88467617	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATCCCTGTAACTAGTGTGATGG -3'
(R):5'- TATGCGGTTGACAAAGACACAG -3'

Sequencing Primer
(F):5'- CCTGTAACTAGTGTGATGGAGCCC -3'
(R):5'- GGTCCCAGGCCTGAGTCTTTC -3'

Posted On

2019-06-07