Mutagenetix > Incidental Mutations

Incidental Mutation 'R1449:Pcdh1'

159179

Institutional Source

Beutler Lab

Gene Symbol

Pcdh1

Ensembl Gene

ENSMUSG00000051375

Gene Name

protocadherin 1

Synonyms

2010005A06Rik

MMRRC Submission

039504-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R1449 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

38185914-38212053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38189876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 968 (H968R)

Ref Sequence

ENSEMBL: ENSMUSP00000125576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160721] [ENSMUST00000161701]

AlphaFold

Q8CFX3

Predicted Effect

probably benign
Transcript: ENSMUST00000160721

SMART Domains

Protein: ENSMUSP00000124732
Gene: ENSMUSG00000051375

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Cadherin_2	36	120	9.9e-10	PFAM
CA	168	256	5.18e-18	SMART
low complexity region	310	321	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161701
AA Change: H968R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125576
Gene: ENSMUSG00000051375
AA Change: H968R

Domain	Start	End	E-Value	Type
CA	29	117	5.18e-18	SMART
CA	141	224	5.68e-24	SMART
CA	256	343	1.84e-23	SMART
CA	367	449	2.99e-32	SMART
CA	473	552	9.36e-25	SMART
CA	578	659	9.9e-15	SMART
transmembrane domain	691	713	N/A	INTRINSIC
low complexity region	737	764	N/A	INTRINSIC
low complexity region	812	825	N/A	INTRINSIC
low complexity region	903	914	N/A	INTRINSIC
low complexity region	1029	1040	N/A	INTRINSIC
low complexity region	1059	1071	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 94.7%
20x: 87.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	G	4: 137,455,355	N274D	possibly damaging	Het
6430571L13Rik	T	A	9: 107,342,490	N47K	probably damaging	Het
Aasdh	C	T	5: 76,886,289	A472T	probably benign	Het
Abca13	A	G	11: 9,298,580	T2776A	probably damaging	Het
Adamts10	T	A	17: 33,545,639	V711D	probably damaging	Het
Adrb3	G	A	8: 27,227,387	R345C	probably damaging	Het
Ak7	T	C	12: 105,742,261	V325A	possibly damaging	Het
Armc6	G	A	8: 70,225,293	L129F	probably benign	Het
Bend6	T	C	1: 33,878,343	N10S	probably benign	Het
Bmpr1b	T	C	3: 141,871,373	E59G	possibly damaging	Het
Brd3	A	G	2: 27,450,251		probably null	Het
Brd3	A	G	2: 27,457,016	Y369H	probably damaging	Het
Cacna1e	C	T	1: 154,485,662		probably null	Het
Camk4	A	G	18: 32,939,475	D27G	probably damaging	Het
Camkk1	T	G	11: 73,033,884	S308A	probably damaging	Het
Catsperb	A	G	12: 101,588,197	T717A	probably benign	Het
Cdh23	A	T	10: 60,376,951	S1563R	probably damaging	Het
Cep44	A	T	8: 56,540,950	S197R	probably benign	Het
Col3a1	T	A	1: 45,321,611	I67N	unknown	Het
Dcaf12l1	T	C	X: 44,789,427	T165A	probably benign	Het
Dicer1	T	C	12: 104,729,243	Y143C	possibly damaging	Het
Dlg5	A	G	14: 24,135,643	I1898T	possibly damaging	Het
Dnah1	T	C	14: 31,263,951	N3762D	probably damaging	Het
Dscaml1	A	T	9: 45,742,223	T1382S	possibly damaging	Het
Entpd3	A	T	9: 120,566,489	R513W	probably damaging	Het
Foxred1	A	G	9: 35,209,442	S132P	probably damaging	Het
Ftsj3	T	C	11: 106,253,000	I273V	probably benign	Het
Hsd17b7	C	T	1: 169,959,682		probably null	Het
Iars	T	A	13: 49,733,710	V1253D	probably damaging	Het
Iqsec1	T	A	6: 90,690,808	K216*	probably null	Het
Itga7	A	G	10: 128,953,501	D971G	probably benign	Het
Kcnk2	G	A	1: 189,340,026	S35L	probably benign	Het
Kif13a	T	C	13: 46,812,736	Y402C	probably damaging	Het
Lamc1	A	G	1: 153,250,495	S484P	probably benign	Het
Lap3	T	C	5: 45,509,519		probably null	Het
Lhx8	G	T	3: 154,328,105	S46*	probably null	Het
Lin7a	T	C	10: 107,323,952	S42P	probably damaging	Het
Lrba	G	A	3: 86,354,278	R1513Q	probably damaging	Het
Maml2	C	A	9: 13,620,684	P398Q	possibly damaging	Het
Mast2	T	C	4: 116,309,013	I1201V	probably damaging	Het
Mmp20	A	T	9: 7,642,768	D201V	probably damaging	Het
Morn5	T	A	2: 36,057,080	C123*	probably null	Het
Mrpl4	A	G	9: 21,007,511	K175E	possibly damaging	Het
Nav3	A	T	10: 109,853,511	S302T	probably benign	Het
Ndrg2	T	C	14: 51,908,134	Y217C	probably damaging	Het
Nfx1	A	G	4: 40,976,803	D159G	probably damaging	Het
Nlrp9b	A	T	7: 20,023,164	T109S	possibly damaging	Het
Npepps	A	G	11: 97,207,154	Y909H	probably benign	Het
Olfr1510	A	G	14: 52,410,567	C102R	probably damaging	Het
Olfr559	A	T	7: 102,724,190	F100Y	probably damaging	Het
Olfr740	A	G	14: 50,453,921	N290D	probably damaging	Het
Olfr801	T	A	10: 129,670,369	D50V	probably damaging	Het
Olfr810	A	C	10: 129,790,854	V245G	probably damaging	Het
Pde1b	T	A	15: 103,525,043	I296N	probably damaging	Het
Phldb1	T	A	9: 44,716,633	T172S	probably benign	Het
Plxdc2	T	C	2: 16,660,781	V215A	possibly damaging	Het
Poln	A	G	5: 34,014,338	I695T	probably damaging	Het
Pou6f2	G	T	13: 18,172,415	Q31K	probably damaging	Het
Psd	T	A	19: 46,324,811	Y40F	probably damaging	Het
Rnf126	T	C	10: 79,761,614	N155D	probably benign	Het
Rpl36-ps3	C	A	12: 12,912,031		noncoding transcript	Het
Rrp15	C	A	1: 186,736,268	V184F	possibly damaging	Het
Rslcan18	G	T	13: 67,102,100	L24M	possibly damaging	Het
Sall1	A	G	8: 89,032,483	I331T	probably benign	Het
Slamf7	A	T	1: 171,641,038	N95K	possibly damaging	Het
Slc1a6	T	C	10: 78,800,117	Y339H	probably damaging	Het
Slc39a8	A	G	3: 135,826,685	N72D	probably benign	Het
Slf1	A	G	13: 77,083,449	S604P	probably damaging	Het
Slfn4	C	T	11: 83,188,993	T110M	probably benign	Het
Tnpo1	T	C	13: 98,878,712	T116A	probably damaging	Het
Tor1b	T	C	2: 30,955,881	I190T	probably damaging	Het
Ttn	C	A	2: 76,969,794	E357*	probably null	Het
Tubg2	G	T	11: 101,156,873	E95*	probably null	Het
Ubap2	A	G	4: 41,209,351		probably null	Het
Ube2i	T	C	17: 25,268,564	D67G	possibly damaging	Het
Ubxn11	A	G	4: 134,124,892	E50G	probably damaging	Het
Wnk1	A	G	6: 119,952,818	V1246A	probably damaging	Het
Zcchc7	A	G	4: 44,929,124	T38A	possibly damaging	Het
Zfp236	A	G	18: 82,646,005	S552P	probably damaging	Het

Other mutations in Pcdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Pcdh1	APN	18	38198729	missense	possibly damaging	0.65
IGL00919:Pcdh1	APN	18	38202812	nonsense	probably null
IGL01744:Pcdh1	APN	18	38203249	missense	probably damaging	1.00
PIT4260001:Pcdh1	UTSW	18	38203366	missense	probably damaging	0.99
R0542:Pcdh1	UTSW	18	38189922	missense	probably damaging	0.99
R1540:Pcdh1	UTSW	18	38189726	missense	probably benign	0.01
R1642:Pcdh1	UTSW	18	38199230	missense	possibly damaging	0.84
R1672:Pcdh1	UTSW	18	38192180	missense	probably damaging	1.00
R1695:Pcdh1	UTSW	18	38202868	missense	probably damaging	1.00
R1727:Pcdh1	UTSW	18	38203032	nonsense	probably null
R1781:Pcdh1	UTSW	18	38189924	missense	probably damaging	1.00
R1793:Pcdh1	UTSW	18	38198885	missense	probably damaging	0.99
R1839:Pcdh1	UTSW	18	38199485	missense	possibly damaging	0.82
R1843:Pcdh1	UTSW	18	38192225	splice site	probably null
R1882:Pcdh1	UTSW	18	38202842	missense	possibly damaging	0.49
R2261:Pcdh1	UTSW	18	38198657	missense	probably benign	0.01
R2262:Pcdh1	UTSW	18	38198657	missense	probably benign	0.01
R2263:Pcdh1	UTSW	18	38198657	missense	probably benign	0.01
R2511:Pcdh1	UTSW	18	38199479	missense	possibly damaging	0.95
R2937:Pcdh1	UTSW	18	38189762	missense	probably benign	0.40
R3941:Pcdh1	UTSW	18	38199458	missense	probably benign	0.02
R3942:Pcdh1	UTSW	18	38199458	missense	probably benign	0.02
R4057:Pcdh1	UTSW	18	38198897	missense	probably damaging	0.98
R4155:Pcdh1	UTSW	18	38203106	missense	probably damaging	0.99
R4169:Pcdh1	UTSW	18	38198305	missense	probably damaging	1.00
R4617:Pcdh1	UTSW	18	38197860	missense	probably benign	0.00
R4690:Pcdh1	UTSW	18	38203475	missense	probably benign	0.33
R4825:Pcdh1	UTSW	18	38189859	missense	possibly damaging	0.77
R5201:Pcdh1	UTSW	18	38198918	missense	probably damaging	0.98
R5266:Pcdh1	UTSW	18	38192199	missense	probably damaging	1.00
R5267:Pcdh1	UTSW	18	38192199	missense	probably damaging	1.00
R5351:Pcdh1	UTSW	18	38197766	missense	probably damaging	1.00
R5568:Pcdh1	UTSW	18	38197367	missense	probably damaging	1.00
R5729:Pcdh1	UTSW	18	38202946	missense	probably damaging	1.00
R5731:Pcdh1	UTSW	18	38198598	missense	probably damaging	1.00
R6043:Pcdh1	UTSW	18	38203274	missense	probably damaging	0.97
R6278:Pcdh1	UTSW	18	38199210	missense	probably benign	0.29
R6333:Pcdh1	UTSW	18	38198807	missense	probably benign	0.25
R6498:Pcdh1	UTSW	18	38197437	missense	probably benign	0.18
R6937:Pcdh1	UTSW	18	38203475	missense	possibly damaging	0.86
R6994:Pcdh1	UTSW	18	38198500	missense	probably damaging	1.00
R7242:Pcdh1	UTSW	18	38203217	missense	probably benign	0.06
R7289:Pcdh1	UTSW	18	38189913	missense	probably damaging	0.99
R7391:Pcdh1	UTSW	18	38202785	missense	possibly damaging	0.95
R7702:Pcdh1	UTSW	18	38203516	missense	unknown
R7738:Pcdh1	UTSW	18	38197476	missense	probably benign	0.02
R7849:Pcdh1	UTSW	18	38189609	missense	probably benign	0.01
R7941:Pcdh1	UTSW	18	38199080	missense	probably damaging	1.00
R8109:Pcdh1	UTSW	18	38198996	missense	probably damaging	1.00
R8675:Pcdh1	UTSW	18	38199176	missense	probably damaging	1.00
R8851:Pcdh1	UTSW	18	38192102	missense	probably damaging	1.00
R8947:Pcdh1	UTSW	18	38199020	missense	possibly damaging	0.89
X0027:Pcdh1	UTSW	18	38189788	nonsense	probably null
Z1088:Pcdh1	UTSW	18	38198067	missense	probably damaging	1.00
Z1176:Pcdh1	UTSW	18	38198688	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AATTTCCTCCAAGGTGGCCGAGTC -3'
(R):5'- GCACCTCAGGTCAGAAGCAGAATG -3'

Sequencing Primer
(F):5'- CTACTGTGGGAGAAGGCACTG -3'
(R):5'- TCAGAAGCAGAATGTGTATGCTAAG -3'

Posted On

2014-03-14