Mutagenetix > Incidental Mutation

Incidental Mutation 'R7832:Pcdh20'

605733

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

PCDH13, C630015B17Rik

MMRRC Submission

045886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88702183-88708832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88707143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 52 (F52L)

Ref Sequence

ENSEMBL: ENSMUSP00000054774 (fasta)

Gene Model

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

AlphaFold

Q8BIZ0

Predicted Effect

probably null
Transcript: ENSMUST00000061628
AA Change: F52L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: F52L

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 null
Transcript: ENSMUST00000192557
AA Change: F52L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: F52L

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: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,038,654 (GRCm39)	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,562,671 (GRCm39)	V95M	probably damaging	Het
Ano7	A	G	1: 93,322,195 (GRCm39)	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,305,616 (GRCm39)	T176I	possibly damaging	Het
Armc2	A	C	10: 41,842,792 (GRCm39)	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400 (GRCm39)	Y33F	probably benign	Het
Banp	A	G	8: 122,747,291 (GRCm39)	S447G	probably benign	Het
Car8	T	A	4: 8,238,860 (GRCm39)	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,036,539 (GRCm39)	P124S	probably damaging	Het
Cdc23	A	T	18: 34,780,072 (GRCm39)	D85E	probably benign	Het
Cnot6l	T	C	5: 96,242,084 (GRCm39)	E213G	possibly damaging	Het
Cntnap4	A	G	8: 113,484,113 (GRCm39)	T389A	probably benign	Het
Cramp1	A	T	17: 25,202,196 (GRCm39)	C429S	probably damaging	Het
Crygn	T	C	5: 24,961,072 (GRCm39)	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,059,588 (GRCm39)	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196 (GRCm39)	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,541,179 (GRCm39)	V61M	probably benign	Het
Dnai1	A	G	4: 41,605,823 (GRCm39)	E271G	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Emsy	G	A	7: 98,289,060 (GRCm39)	T79M	probably damaging	Het
Ergic1	A	G	17: 26,853,449 (GRCm39)	D145G	probably damaging	Het
Fah	A	G	7: 84,244,686 (GRCm39)	V229A	probably damaging	Het
Fam76a	G	A	4: 132,629,342 (GRCm39)	T270I	probably damaging	Het
Fat4	A	T	3: 39,055,353 (GRCm39)	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,418,999 (GRCm39)	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859 (GRCm39)	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,734,096 (GRCm39)	S541T	probably benign	Het
Gm7489	A	G	15: 53,749,402 (GRCm39)	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056 (GRCm39)	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,482,848 (GRCm39)	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,409,525 (GRCm39)	T13S	probably benign	Het
Il23r	T	C	6: 67,400,846 (GRCm39)	T495A	probably benign	Het
Insyn2b	A	G	11: 34,353,034 (GRCm39)	T359A	probably benign	Het
Irf5	A	G	6: 29,535,461 (GRCm39)	T230A	probably benign	Het
Itga2b	A	T	11: 102,348,108 (GRCm39)	I831N	probably damaging	Het
Itgb4	A	G	11: 115,891,087 (GRCm39)	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,440,991 (GRCm39)	P605Q	probably benign	Het
Larp7	A	T	3: 127,337,916 (GRCm39)	M381K	possibly damaging	Het
Lfng	G	A	5: 140,598,588 (GRCm39)	G269D	probably benign	Het
Liph	T	C	16: 21,780,986 (GRCm39)	I335V	probably benign	Het
Map2k2	A	T	10: 80,954,040 (GRCm39)	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,964,044 (GRCm39)		probably null	Het
Nod2	A	G	8: 89,387,425 (GRCm39)		probably null	Het
Or51ag1	A	C	7: 103,155,586 (GRCm39)	L189R	probably damaging	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or9s23	T	C	1: 92,501,219 (GRCm39)	F109L	probably benign	Het
Pkhd1	A	T	1: 20,573,223 (GRCm39)	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,334,536 (GRCm39)	D412V	possibly damaging	Het
Pole	T	G	5: 110,465,663 (GRCm39)	M1197R	probably benign	Het
Pom121l2	C	T	13: 22,168,048 (GRCm39)	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,995,472 (GRCm39)	M497K	probably benign	Het
Rbm45	G	T	2: 76,206,797 (GRCm39)	V270F	possibly damaging	Het
Ros1	A	T	10: 52,020,957 (GRCm39)	F673I	probably damaging	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Scn4a	A	G	11: 106,212,841 (GRCm39)	I1388T	probably benign	Het
Sema3c	G	A	5: 17,899,845 (GRCm39)	V446I	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc35a5	T	A	16: 44,964,570 (GRCm39)	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,841,182 (GRCm39)	I76T	probably damaging	Het
Slfn4	A	G	11: 83,077,419 (GRCm39)	D69G	probably damaging	Het
Smc6	T	C	12: 11,367,844 (GRCm39)	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,398,224 (GRCm39)	S9G	probably benign	Het
Stx8	T	A	11: 68,000,106 (GRCm39)	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,147,596 (GRCm39)	C232S	probably benign	Het
Susd4	G	A	1: 182,686,070 (GRCm39)	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539 (GRCm39)	P3350S	probably benign	Het
Tbx20	A	T	9: 24,685,108 (GRCm39)	S12T	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Umodl1	A	T	17: 31,192,666 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,538 (GRCm39)	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,933 (GRCm39)	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,362,882 (GRCm39)	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,129,664 (GRCm39)	R852W	probably damaging	Het
Wdr41	A	T	13: 95,151,701 (GRCm39)	N287I	probably benign	Het
Zfp202	A	G	9: 40,121,758 (GRCm39)	D285G	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
R1664:Pcdh20	UTSW	14	88,705,758 (GRCm39)	missense	possibly damaging	0.63
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
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'- ACATACTGGCCACTCAGTCC -3'
(R):5'- CTACTTTGCTCAGTTCAGATTAGG -3'

Sequencing Primer
(F):5'- TTCCCCTCAGAGGCAGTG -3'
(R):5'- CTCAGTTCAGATTAGGGGTTTTG -3'

Posted On

2019-12-20