Mutagenetix > Incidental Mutations

Incidental Mutation 'R2471:Pcdh20'

253120

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

C630015B17Rik, PCDH13

MMRRC Submission

040403-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88464743-88471396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88467236 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 876 (E876A)

Ref Sequence

ENSEMBL: ENSMUSP00000141860 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061628
AA Change: E876A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: E876A

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: E876A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: E876A

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,980,863	M390K	probably benign	Het
Bicra	A	G	7: 15,972,332	S1395P	probably benign	Het
Cacnb2	G	A	2: 14,984,314	D402N	probably damaging	Het
Csmd1	T	A	8: 16,211,762	D907V	probably damaging	Het
Cstl1	T	A	2: 148,751,121	Y65*	probably null	Het
Dnajc1	T	C	2: 18,219,816	I213V	possibly damaging	Het
Emcn	C	T	3: 137,404,011	T138M	probably damaging	Het
F3	G	T	3: 121,725,040	W51L	probably damaging	Het
Far2	A	G	6: 148,138,694	Y41C	probably damaging	Het
Flrt1	A	T	19: 7,096,491	D230E	probably damaging	Het
Gimap7	G	A	6: 48,724,052	V191M	probably damaging	Het
Gm19402	A	T	10: 77,690,520		probably benign	Het
Ipo5	A	C	14: 120,922,162	K134T	probably benign	Het
Kcnf1	T	C	12: 17,175,530	E230G	probably damaging	Het
Mad1l1	T	C	5: 140,261,552	E340G	probably benign	Het
Map4k5	T	C	12: 69,856,846	I62V	probably benign	Het
March7	A	G	2: 60,236,900	K588R	possibly damaging	Het
Mctp2	T	A	7: 72,161,161	K52*	probably null	Het
Nr1h4	A	T	10: 89,473,894	F310L	probably damaging	Het
Ofcc1	G	A	13: 40,097,025	S605F	probably damaging	Het
Olfr1369-ps1	A	T	13: 21,116,429	T246S	probably damaging	Het
Olfr1447	G	A	19: 12,901,315	T155I	probably benign	Het
Olfr209	A	T	16: 59,361,581	S212R	possibly damaging	Het
Plce1	C	T	19: 38,779,926	A2215V	probably damaging	Het
Ptprg	T	C	14: 12,210,327	Y128H	probably damaging	Het
Sigirr	A	G	7: 141,092,597	L204S	probably damaging	Het
Slc2a12	A	T	10: 22,664,807	Y187F	probably damaging	Het
Slc31a2	A	T	4: 62,296,075	R86W	probably null	Het
Smc1b	T	C	15: 85,092,017	K830E	probably damaging	Het
Ssrp1	A	G	2: 85,042,298	N427D	possibly damaging	Het
Taar9	A	T	10: 24,109,391	F48L	probably benign	Het
Taok2	T	C	7: 126,875,100	E319G	probably damaging	Het
Try10	T	C	6: 41,356,746	S142P	probably damaging	Het
Tsc22d1	A	G	14: 76,418,204	T626A	probably benign	Het
Zfp101	T	C	17: 33,380,976	E602G	possibly damaging	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
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
X0028:Pcdh20	UTSW	14	88467617	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGTTACAATGTCCCTCC -3'
(R):5'- CATCGCTTACTGGTGAAAGTG -3'

Sequencing Primer
(F):5'- CCATGTTATTCCACAATGGCATATC -3'
(R):5'- TGAGTGATCACGGATACCCTG -3'

Posted On

2014-12-04