Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Pcdh20'

669089

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

C630015B17Rik, PCDH13

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88464743-88471396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88468413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 484 (Y484N)

Ref Sequence

ENSEMBL: ENSMUSP00000054774 (fasta)

Gene Model

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

AlphaFold

Q8BIZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061628
AA Change: Y484N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: Y484N

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: Y484N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: Y484N

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	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
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
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'- GCGTAGAGCTTTGTCAGAAAGG -3'
(R):5'- AAATCGTCCCACGTTATATCGC -3'

Sequencing Primer
(F):5'- CAATGGTCAATTCTATCAAGGGCTG -3'
(R):5'- GTCCCACGTTATATCGCAAATGAGG -3'

Posted On

2021-04-30