Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Pcdh20'

187052

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

PCDH13, C630015B17Rik

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88702183-88708832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88705758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 514 (E514G)

Ref Sequence

ENSEMBL: ENSMUSP00000141860 (fasta)

Gene Model

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

AlphaFold

Q8BIZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061628
AA Change: E514G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: E514G

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

possibly damaging
Transcript: ENSMUST00000192557
AA Change: E514G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: E514G

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,772 (GRCm39)	T45S	probably benign	Het
Ackr1	A	G	1: 173,160,433 (GRCm39)	F29L	probably benign	Het
Adgrf2	T	A	17: 43,025,305 (GRCm39)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,482,944 (GRCm39)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,812,913 (GRCm39)	D465E	probably benign	Het
Ankrd27	T	A	7: 35,306,551 (GRCm39)	D310E	probably damaging	Het
Ap3d1	G	A	10: 80,553,571 (GRCm39)	Q559*	probably null	Het
C4b	T	C	17: 34,951,952 (GRCm39)	T1298A	probably damaging	Het
Casr	T	A	16: 36,330,327 (GRCm39)	K336*	probably null	Het
Ccdc116	A	T	16: 16,960,492 (GRCm39)	D108E	probably benign	Het
Ccdc168	T	A	1: 44,098,387 (GRCm39)	I904F	possibly damaging	Het
Ccr7	A	T	11: 99,036,517 (GRCm39)	I135N	possibly damaging	Het
Cd96	A	G	16: 45,938,364 (GRCm39)	Y34H	possibly damaging	Het
Cdan1	T	A	2: 120,550,987 (GRCm39)	D1135V	probably damaging	Het
Cecr2	C	A	6: 120,738,987 (GRCm39)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Chd9	T	G	8: 91,749,418 (GRCm39)		probably null	Het
Cntnap5c	G	T	17: 58,600,985 (GRCm39)	W776L	probably benign	Het
Col24a1	G	A	3: 145,095,355 (GRCm39)		probably null	Het
Cpa2	G	T	6: 30,554,314 (GRCm39)	M311I	probably damaging	Het
Cpz	A	G	5: 35,664,087 (GRCm39)	F483L	probably damaging	Het
Ddx19a	A	C	8: 111,716,130 (GRCm39)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,876,478 (GRCm39)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,588,273 (GRCm39)	F362L	probably damaging	Het
Fryl	A	G	5: 73,216,778 (GRCm39)	Y2171H	probably damaging	Het
Gba2	T	C	4: 43,578,080 (GRCm39)	R90G	probably benign	Het
Gm10073	T	C	8: 107,299,864 (GRCm39)	E40G	probably damaging	Het
Grhl3	T	C	4: 135,279,861 (GRCm39)	I398V	probably benign	Het
Grip2	T	A	6: 91,742,233 (GRCm39)	H899L	probably damaging	Het
Grk2	T	C	19: 4,337,268 (GRCm39)	K644E	possibly damaging	Het
Iars1	A	T	13: 49,865,251 (GRCm39)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,759,704 (GRCm39)	V2084M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm39)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,711,886 (GRCm39)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,252,342 (GRCm39)	T457M	probably damaging	Het
Ncln	A	T	10: 81,323,555 (GRCm39)	C531S	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j8	T	C	17: 38,263,784 (GRCm39)	I44V	probably benign	Het
Or5v1	C	T	17: 37,810,316 (GRCm39)	T258M	possibly damaging	Het
Or8c11	A	T	9: 38,289,548 (GRCm39)	M124L	possibly damaging	Het
Otogl	A	G	10: 107,642,437 (GRCm39)	V1331A	probably benign	Het
Palb2	A	G	7: 121,723,615 (GRCm39)		probably benign	Het
Pclaf	A	G	9: 65,797,730 (GRCm39)	N7S	probably benign	Het
Pdrg1	C	T	2: 152,857,248 (GRCm39)		probably benign	Het
Phf8-ps	T	A	17: 33,285,492 (GRCm39)	I437F	probably damaging	Het
Pik3r6	T	A	11: 68,426,932 (GRCm39)	D464E	probably benign	Het
Pkp3	A	G	7: 140,667,560 (GRCm39)	N454D	probably damaging	Het
Plekha7	C	A	7: 115,734,269 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,167,663 (GRCm39)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,483,028 (GRCm39)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,637,700 (GRCm39)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,125,329 (GRCm39)	L621P	probably damaging	Het
Rasgrp3	A	G	17: 75,831,172 (GRCm39)	K524R	probably damaging	Het
Rasgrp4	T	A	7: 28,839,688 (GRCm39)	H133Q	probably benign	Het
Reln	A	T	5: 22,134,084 (GRCm39)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,217,903 (GRCm39)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,058,464 (GRCm39)	*113L	probably null	Het
Scn5a	A	C	9: 119,350,243 (GRCm39)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,821 (GRCm39)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,865,269 (GRCm39)	H522R	probably damaging	Het
Spink2	A	T	5: 77,354,855 (GRCm39)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,878,266 (GRCm39)	L19P	possibly damaging	Het
St7l	T	C	3: 104,778,214 (GRCm39)	V117A	probably damaging	Het
Stac2	C	T	11: 97,933,420 (GRCm39)	S174N	probably damaging	Het
Sult4a1	A	G	15: 83,970,818 (GRCm39)	Y196H	probably benign	Het
Tex2	C	T	11: 106,458,608 (GRCm39)		probably benign	Het
Tprg1l	A	T	4: 154,243,862 (GRCm39)	V98D	possibly damaging	Het
Ttn	G	A	2: 76,548,369 (GRCm39)	H31978Y	probably damaging	Het
Ttn	T	C	2: 76,658,853 (GRCm39)		probably benign	Het
Tyk2	C	A	9: 21,031,649 (GRCm39)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,991,634 (GRCm39)	Y6C	possibly damaging	Het
Urb1	A	T	16: 90,584,970 (GRCm39)		probably null	Het
Vmn2r94	G	C	17: 18,464,406 (GRCm39)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,518,752 (GRCm39)	T389K	probably damaging	Het
Wrn	A	T	8: 33,770,794 (GRCm39)		probably null	Het
Xab2	T	A	8: 3,669,068 (GRCm39)		probably null	Het
Zfp458	A	T	13: 67,406,144 (GRCm39)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,208,138 (GRCm39)	H61R	probably damaging	Het
Zfp942	C	T	17: 22,147,420 (GRCm39)	G403E	possibly damaging	Het

Other mutations in Pcdh20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Pcdh20	APN	14	88,705,317 (GRCm39)	missense	possibly damaging	0.65
IGL01112:Pcdh20	APN	14	88,704,636 (GRCm39)	missense	probably benign	0.01
IGL01586:Pcdh20	APN	14	88,708,344 (GRCm39)	missense	probably benign	0.37
IGL02007:Pcdh20	APN	14	88,707,031 (GRCm39)	missense	probably benign	0.09
IGL02545:Pcdh20	APN	14	88,706,280 (GRCm39)	missense	possibly damaging	0.74
IGL02935:Pcdh20	APN	14	88,704,438 (GRCm39)	utr 3 prime	probably benign
PIT4362001:Pcdh20	UTSW	14	88,704,462 (GRCm39)	missense	probably damaging	0.97
PIT4403001:Pcdh20	UTSW	14	88,704,462 (GRCm39)	missense	probably damaging	0.97
PIT4453001:Pcdh20	UTSW	14	88,704,744 (GRCm39)	missense	probably damaging	1.00
R0322:Pcdh20	UTSW	14	88,706,383 (GRCm39)	missense	probably benign	0.24
R0372:Pcdh20	UTSW	14	88,706,439 (GRCm39)	missense	probably damaging	1.00
R0391:Pcdh20	UTSW	14	88,706,104 (GRCm39)	missense	probably benign
R0575:Pcdh20	UTSW	14	88,705,048 (GRCm39)	missense	probably damaging	1.00
R0789:Pcdh20	UTSW	14	88,706,226 (GRCm39)	missense	probably damaging	1.00
R1370:Pcdh20	UTSW	14	88,705,737 (GRCm39)	missense	probably benign	0.00
R1465:Pcdh20	UTSW	14	88,706,673 (GRCm39)	missense	probably benign	0.00
R1465:Pcdh20	UTSW	14	88,706,673 (GRCm39)	missense	probably benign	0.00
R1677:Pcdh20	UTSW	14	88,705,410 (GRCm39)	missense	probably damaging	1.00
R1764:Pcdh20	UTSW	14	88,706,620 (GRCm39)	missense	possibly damaging	0.77
R1907:Pcdh20	UTSW	14	88,706,140 (GRCm39)	missense	probably benign	0.01
R2043:Pcdh20	UTSW	14	88,704,591 (GRCm39)	missense	probably benign	0.01
R2430:Pcdh20	UTSW	14	88,704,984 (GRCm39)	missense	probably damaging	1.00
R2471:Pcdh20	UTSW	14	88,704,672 (GRCm39)	missense	probably benign	0.00
R3838:Pcdh20	UTSW	14	88,705,899 (GRCm39)	missense	probably benign	0.00
R4163:Pcdh20	UTSW	14	88,705,615 (GRCm39)	missense	probably damaging	1.00
R4472:Pcdh20	UTSW	14	88,706,434 (GRCm39)	missense	probably benign	0.21
R4602:Pcdh20	UTSW	14	88,705,866 (GRCm39)	missense	probably damaging	1.00
R4681:Pcdh20	UTSW	14	88,705,052 (GRCm39)	missense	probably damaging	1.00
R4918:Pcdh20	UTSW	14	88,705,104 (GRCm39)	missense	probably damaging	1.00
R4921:Pcdh20	UTSW	14	88,707,162 (GRCm39)	missense	probably benign	0.01
R5204:Pcdh20	UTSW	14	88,706,351 (GRCm39)	missense	probably damaging	1.00
R5256:Pcdh20	UTSW	14	88,705,813 (GRCm39)	missense	probably benign
R5652:Pcdh20	UTSW	14	88,704,760 (GRCm39)	missense	probably damaging	1.00
R5815:Pcdh20	UTSW	14	88,708,312 (GRCm39)	missense	probably benign	0.03
R6195:Pcdh20	UTSW	14	88,705,488 (GRCm39)	missense	probably benign	0.39
R6233:Pcdh20	UTSW	14	88,705,488 (GRCm39)	missense	probably benign	0.39
R6848:Pcdh20	UTSW	14	88,704,690 (GRCm39)	missense	probably benign	0.03
R6913:Pcdh20	UTSW	14	88,706,038 (GRCm39)	missense	probably benign
R7044:Pcdh20	UTSW	14	88,706,607 (GRCm39)	missense	probably damaging	0.98
R7224:Pcdh20	UTSW	14	88,706,511 (GRCm39)	missense	possibly damaging	0.85
R7388:Pcdh20	UTSW	14	88,706,103 (GRCm39)	missense	probably benign	0.33
R7486:Pcdh20	UTSW	14	88,706,050 (GRCm39)	missense	possibly damaging	0.79
R7651:Pcdh20	UTSW	14	88,706,589 (GRCm39)	missense	probably damaging	1.00
R7664:Pcdh20	UTSW	14	88,706,803 (GRCm39)	missense	probably benign
R7706:Pcdh20	UTSW	14	88,704,793 (GRCm39)	missense	probably damaging	1.00
R7832:Pcdh20	UTSW	14	88,707,143 (GRCm39)	missense	probably null	0.02
R7892:Pcdh20	UTSW	14	88,704,867 (GRCm39)	nonsense	probably null
R8218:Pcdh20	UTSW	14	88,706,047 (GRCm39)	missense	probably damaging	0.96
R8545:Pcdh20	UTSW	14	88,706,601 (GRCm39)	missense	probably damaging	0.96
R8701:Pcdh20	UTSW	14	88,705,849 (GRCm39)	missense	possibly damaging	0.95
R9219:Pcdh20	UTSW	14	88,706,255 (GRCm39)	missense	probably benign	0.01
R9238:Pcdh20	UTSW	14	88,706,190 (GRCm39)	missense	probably benign	0.43
R9418:Pcdh20	UTSW	14	88,705,455 (GRCm39)	missense	probably benign
R9665:Pcdh20	UTSW	14	88,707,162 (GRCm39)	missense	probably benign	0.44
X0028:Pcdh20	UTSW	14	88,705,053 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGTCAGCATCTGTAGCGTAGAG -3'
(R):5'- AGCTAATGGACCTGGCTGTATCCC -3'

Sequencing Primer
(F):5'- AGCTTTGTCAGAAAGGCATTG -3'
(R):5'- GTCCCACGTTATATCGCAAATGAG -3'

Posted On

2014-05-09