Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Pcdh20'

441519

Institutional Source

Beutler Lab

Gene Symbol

Pcdh20

Ensembl Gene

ENSMUSG00000050505

Gene Name

protocadherin 20

Synonyms

PCDH13, C630015B17Rik

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5652 (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 88704760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 847 (T847A)

Ref Sequence

ENSEMBL: ENSMUSP00000141860 (fasta)

Gene Model

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

AlphaFold

Q8BIZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000061628
AA Change: T847A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: T847A

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 damaging
Transcript: ENSMUST00000192557
AA Change: T847A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: T847A

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
H1f6	A	G	13: 23,880,219 (GRCm39)	K124R	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kcnh6	C	T	11: 105,899,811 (GRCm39)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Orc2	A	G	1: 58,505,231 (GRCm39)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pip5k1a	T	C	3: 94,974,750 (GRCm39)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Septin8	A	G	11: 53,428,044 (GRCm39)	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,372,812 (GRCm39)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	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
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'- TGTAACTAGTGTGATGGAGCC -3'
(R):5'- CGGTTGACAAAGACACAGGC -3'

Sequencing Primer
(F):5'- GCCCAAGCTTATGACTGACAGAG -3'
(R):5'- TTATAGCATCATAGGGAGAAGAGGTC -3'

Posted On

2016-11-08