Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Pcdh20'

554651

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 #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88464743-88471396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 88467026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 946 (P946R)

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: P946R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: P946R

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: P946R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: P946R

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: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830	D182V		Het
Atad5	C	T	11: 80,111,567	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583		probably null	Het
Cmtr2	G	A	8: 110,222,336	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198	L32F	probably benign	Het
Pde6b	T	C	5: 108,423,585		probably null	Het
Pdzrn4	A	T	15: 92,769,881	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,360,317	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883	C69*	probably null	Het
Scara3	T	C	14: 65,936,402	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815	T626A	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
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
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'- AGAGCTGCCAGTTATATCCAAC -3'
(R):5'- ATGCCCACATTGGTAGCTCTG -3'

Sequencing Primer
(F):5'- GCTGCCAGTTATATCCAACATTTTAC -3'
(R):5'- CATTGGTAGCTCTGTCAGTCATAAGC -3'

Posted On

2019-06-07