Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Pcdh20'

378633

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

C630015B17Rik, PCDH13

MMRRC Submission

042523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88464743-88471396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88469726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 46 (V46A)

Ref Sequence

ENSEMBL: ENSMUSP00000141860 (fasta)

Gene Model

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

AlphaFold

Q8BIZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000061628
AA Change: V46A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: V46A

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: V46A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: V46A

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,796 (GRCm38)	N65K	probably benign	Het
Abcc9	T	C	6: 142,590,436 (GRCm38)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,887,193 (GRCm38)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,893,541 (GRCm38)	V284A	possibly damaging	Het
Adam3	T	C	8: 24,684,614 (GRCm38)	M712V	probably benign	Het
Adck1	T	C	12: 88,441,138 (GRCm38)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,512,110 (GRCm38)	W242L	probably damaging	Het
Alk	T	C	17: 71,904,315 (GRCm38)	T857A	probably benign	Het
Alms1	A	G	6: 85,628,546 (GRCm38)	T2393A	probably benign	Het
Ank3	C	T	10: 70,002,109 (GRCm38)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,684,824 (GRCm38)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,650,099 (GRCm38)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 98,872,061 (GRCm38)	F114L	probably damaging	Het
Cage1	G	A	13: 38,019,208 (GRCm38)	H627Y	probably benign	Het
Cars	T	C	7: 143,569,475 (GRCm38)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,829,802 (GRCm38)	E487G	probably damaging	Het
Ccdc80	A	T	16: 45,118,167 (GRCm38)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,353,913 (GRCm38)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,633,215 (GRCm38)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,222,687 (GRCm38)	T766S	unknown	Het
Chst15	T	A	7: 132,247,884 (GRCm38)	T443S	probably benign	Het
Cnbp	T	C	6: 87,845,146 (GRCm38)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,516,032 (GRCm38)	V1003E	possibly damaging	Het
Crct1	A	G	3: 93,014,825 (GRCm38)		probably benign	Het
Dand5	C	T	8: 84,816,484 (GRCm38)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,771,233 (GRCm38)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,593,441 (GRCm38)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 142,082,154 (GRCm38)		probably benign	Het
Eef1akmt1	C	T	14: 57,550,632 (GRCm38)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,590,980 (GRCm38)	W168L	probably benign	Het
Ep400	A	G	5: 110,665,810 (GRCm38)	C2908R	probably damaging	Het
Espl1	A	G	15: 102,315,241 (GRCm38)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,910,517 (GRCm38)	N747D	probably benign	Het
Fancm	T	C	12: 65,077,141 (GRCm38)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,732,789 (GRCm38)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,600,311 (GRCm38)		probably null	Het
Flt4	T	C	11: 49,627,143 (GRCm38)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,113,820 (GRCm38)	H136R	possibly damaging	Het
Frem3	T	A	8: 80,613,136 (GRCm38)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,577,449 (GRCm38)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,175,676 (GRCm38)	M760K	probably damaging	Het
Glis3	T	C	19: 28,666,104 (GRCm38)	T13A	probably damaging	Het
Gm13078	A	T	4: 143,728,326 (GRCm38)	K398M	possibly damaging	Het
H2-K1	A	G	17: 33,997,076 (GRCm38)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,826,720 (GRCm38)	A130V	probably damaging	Het
Herc2	T	A	7: 56,229,690 (GRCm38)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,736,294 (GRCm38)	R56H	possibly damaging	Het
Itgb4	A	G	11: 116,006,605 (GRCm38)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,098,005 (GRCm38)	Y745H	probably damaging	Het
Kank3	G	T	17: 33,817,200 (GRCm38)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm38)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 26,921,023 (GRCm38)	R53W	probably damaging	Het
Krt39	A	G	11: 99,514,749 (GRCm38)	S442P	possibly damaging	Het
Lcat	G	A	8: 105,942,442 (GRCm38)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,621,175 (GRCm38)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm38)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,395,576 (GRCm38)	R12S	probably damaging	Het
Msr1	T	C	8: 39,624,251 (GRCm38)	E106G	possibly damaging	Het
Myh4	T	A	11: 67,254,028 (GRCm38)	L1256Q	probably damaging	Het
Mypn	G	A	10: 63,147,936 (GRCm38)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,701,469 (GRCm38)	N331I	probably benign	Het
Nup107	A	G	10: 117,770,511 (GRCm38)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,214,517 (GRCm38)	F174L	probably benign	Het
Olfr1497	T	C	19: 13,795,465 (GRCm38)	I49V	probably benign	Het
Olfr597	A	T	7: 103,320,543 (GRCm38)	N44I	probably damaging	Het
Olfr975	A	C	9: 39,950,225 (GRCm38)	V182G	probably damaging	Het
Parp2	C	A	14: 50,819,268 (GRCm38)	L310I	probably damaging	Het
Pcdhgb6	A	G	18: 37,743,472 (GRCm38)	D411G	probably damaging	Het
Pkd1l2	A	T	8: 117,072,549 (GRCm38)	N267K	probably damaging	Het
Pkd1l2	T	C	8: 117,054,885 (GRCm38)	E807G	probably benign	Het
Rell1	C	A	5: 63,936,033 (GRCm38)	M126I	probably damaging	Het
Robo4	G	A	9: 37,402,560 (GRCm38)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,261,009 (GRCm38)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,330,852 (GRCm38)	V169A	probably benign	Het
Rubcn	C	T	16: 32,847,294 (GRCm38)	V166I	probably damaging	Het
Sall2	T	C	14: 52,315,393 (GRCm38)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,752,438 (GRCm38)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,892,235 (GRCm38)	I182T	probably benign	Het
Selp	A	G	1: 164,141,397 (GRCm38)	D522G	possibly damaging	Het
Sema4b	T	A	7: 80,198,756 (GRCm38)	I35N	possibly damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm38)	F268I	probably damaging	Het
Slc14a2	G	T	18: 78,192,188 (GRCm38)	A258E	probably damaging	Het
Slc17a9	T	C	2: 180,735,949 (GRCm38)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,436,933 (GRCm38)	I233L	probably benign	Het
Slc35f1	A	G	10: 53,062,602 (GRCm38)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 45,288,310 (GRCm38)	E350G	possibly damaging	Het
Spata21	A	T	4: 141,112,091 (GRCm38)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm38)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,841,899 (GRCm38)	T56A	probably benign	Het
Tigit	A	T	16: 43,662,017 (GRCm38)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,362,885 (GRCm38)	Q776L	possibly damaging	Het
Tspan12	A	C	6: 21,835,449 (GRCm38)	I9S	possibly damaging	Het
Unc5c	T	A	3: 141,788,966 (GRCm38)	Y347N	probably damaging	Het
Unk	A	G	11: 116,054,945 (GRCm38)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,187,480 (GRCm38)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,864,575 (GRCm38)	M259L	probably benign	Het
Zan	T	C	5: 137,408,370 (GRCm38)		probably benign	Het
Zdhhc6	T	C	19: 55,313,210 (GRCm38)	H113R	probably damaging	Het

Other mutations in Pcdh20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Pcdh20	APN	14	88,467,881 (GRCm38)	missense	possibly damaging	0.65
IGL01112:Pcdh20	APN	14	88,467,200 (GRCm38)	missense	probably benign	0.01
IGL01586:Pcdh20	APN	14	88,470,908 (GRCm38)	missense	probably benign	0.37
IGL02007:Pcdh20	APN	14	88,469,595 (GRCm38)	missense	probably benign	0.09
IGL02545:Pcdh20	APN	14	88,468,844 (GRCm38)	missense	possibly damaging	0.74
IGL02935:Pcdh20	APN	14	88,467,002 (GRCm38)	utr 3 prime	probably benign
PIT4362001:Pcdh20	UTSW	14	88,467,026 (GRCm38)	missense	probably damaging	0.97
PIT4403001:Pcdh20	UTSW	14	88,467,026 (GRCm38)	missense	probably damaging	0.97
PIT4453001:Pcdh20	UTSW	14	88,467,308 (GRCm38)	missense	probably damaging	1.00
R0322:Pcdh20	UTSW	14	88,468,947 (GRCm38)	missense	probably benign	0.24
R0372:Pcdh20	UTSW	14	88,469,003 (GRCm38)	missense	probably damaging	1.00
R0391:Pcdh20	UTSW	14	88,468,668 (GRCm38)	missense	probably benign
R0575:Pcdh20	UTSW	14	88,467,612 (GRCm38)	missense	probably damaging	1.00
R0789:Pcdh20	UTSW	14	88,468,790 (GRCm38)	missense	probably damaging	1.00
R1370:Pcdh20	UTSW	14	88,468,301 (GRCm38)	missense	probably benign	0.00
R1465:Pcdh20	UTSW	14	88,469,237 (GRCm38)	missense	probably benign	0.00
R1465:Pcdh20	UTSW	14	88,469,237 (GRCm38)	missense	probably benign	0.00
R1664:Pcdh20	UTSW	14	88,468,322 (GRCm38)	missense	possibly damaging	0.63
R1677:Pcdh20	UTSW	14	88,467,974 (GRCm38)	missense	probably damaging	1.00
R1764:Pcdh20	UTSW	14	88,469,184 (GRCm38)	missense	possibly damaging	0.77
R1907:Pcdh20	UTSW	14	88,468,704 (GRCm38)	missense	probably benign	0.01
R2043:Pcdh20	UTSW	14	88,467,155 (GRCm38)	missense	probably benign	0.01
R2430:Pcdh20	UTSW	14	88,467,548 (GRCm38)	missense	probably damaging	1.00
R2471:Pcdh20	UTSW	14	88,467,236 (GRCm38)	missense	probably benign	0.00
R3838:Pcdh20	UTSW	14	88,468,463 (GRCm38)	missense	probably benign	0.00
R4163:Pcdh20	UTSW	14	88,468,179 (GRCm38)	missense	probably damaging	1.00
R4472:Pcdh20	UTSW	14	88,468,998 (GRCm38)	missense	probably benign	0.21
R4602:Pcdh20	UTSW	14	88,468,430 (GRCm38)	missense	probably damaging	1.00
R4681:Pcdh20	UTSW	14	88,467,616 (GRCm38)	missense	probably damaging	1.00
R4918:Pcdh20	UTSW	14	88,467,668 (GRCm38)	missense	probably damaging	1.00
R5204:Pcdh20	UTSW	14	88,468,915 (GRCm38)	missense	probably damaging	1.00
R5256:Pcdh20	UTSW	14	88,468,377 (GRCm38)	missense	probably benign
R5652:Pcdh20	UTSW	14	88,467,324 (GRCm38)	missense	probably damaging	1.00
R5815:Pcdh20	UTSW	14	88,470,876 (GRCm38)	missense	probably benign	0.03
R6195:Pcdh20	UTSW	14	88,468,052 (GRCm38)	missense	probably benign	0.39
R6233:Pcdh20	UTSW	14	88,468,052 (GRCm38)	missense	probably benign	0.39
R6848:Pcdh20	UTSW	14	88,467,254 (GRCm38)	missense	probably benign	0.03
R6913:Pcdh20	UTSW	14	88,468,602 (GRCm38)	missense	probably benign
R7044:Pcdh20	UTSW	14	88,469,171 (GRCm38)	missense	probably damaging	0.98
R7224:Pcdh20	UTSW	14	88,469,075 (GRCm38)	missense	possibly damaging	0.85
R7388:Pcdh20	UTSW	14	88,468,667 (GRCm38)	missense	probably benign	0.33
R7486:Pcdh20	UTSW	14	88,468,614 (GRCm38)	missense	possibly damaging	0.79
R7651:Pcdh20	UTSW	14	88,469,153 (GRCm38)	missense	probably damaging	1.00
R7664:Pcdh20	UTSW	14	88,469,367 (GRCm38)	missense	probably benign
R7706:Pcdh20	UTSW	14	88,467,357 (GRCm38)	missense	probably damaging	1.00
R7832:Pcdh20	UTSW	14	88,469,707 (GRCm38)	missense	probably null	0.02
R7892:Pcdh20	UTSW	14	88,467,431 (GRCm38)	nonsense	probably null
R8218:Pcdh20	UTSW	14	88,468,611 (GRCm38)	missense	probably damaging	0.96
R8545:Pcdh20	UTSW	14	88,469,165 (GRCm38)	missense	probably damaging	0.96
R8701:Pcdh20	UTSW	14	88,468,413 (GRCm38)	missense	possibly damaging	0.95
R9219:Pcdh20	UTSW	14	88,468,819 (GRCm38)	missense	probably benign	0.01
R9238:Pcdh20	UTSW	14	88,468,754 (GRCm38)	missense	probably benign	0.43
R9418:Pcdh20	UTSW	14	88,468,019 (GRCm38)	missense	probably benign
R9665:Pcdh20	UTSW	14	88,469,726 (GRCm38)	missense	probably benign	0.44
X0028:Pcdh20	UTSW	14	88,467,617 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACATACTGGCCACTCAGTCC -3'
(R):5'- CCCTCTGGCAGCAAGTTTCTAC -3'

Sequencing Primer
(F):5'- GCTCTGGATGCAGCAACTG -3'
(R):5'- GGCAGCAAGTTTCTACTTTGC -3'

Posted On

2016-04-15