Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Pcdh7'

702414

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57717967-58133230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58129321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1246 (N1246K)

Ref Sequence

ENSEMBL: ENSMUSP00000142319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094783] [ENSMUST00000191837]

AlphaFold

A0A0A6YY83

Predicted Effect

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: N1238K

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CA	48	141	7.29e-4	SMART
CA	165	306	1.13e-18	SMART
CA	330	413	2.12e-23	SMART
CA	445	533	1.53e-20	SMART
CA	557	637	1.36e-26	SMART
CA	661	740	2.38e-26	SMART
CA	766	847	2.01e-15	SMART
transmembrane domain	878	900	N/A	INTRINSIC
low complexity region	929	944	N/A	INTRINSIC
low complexity region	1088	1099	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191837
AA Change: N1246K

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: N1246K

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CA	48	141	7.29e-4	SMART
CA	165	306	1.13e-18	SMART
CA	330	413	2.12e-23	SMART
CA	445	533	1.53e-20	SMART
CA	557	637	1.36e-26	SMART
CA	661	740	2.38e-26	SMART
CA	766	847	2.01e-15	SMART
transmembrane domain	878	900	N/A	INTRINSIC
low complexity region	929	944	N/A	INTRINSIC
low complexity region	1088	1099	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192048

Predicted Effect

probably benign
Transcript: ENSMUST00000195156

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Cep78	T	C	19: 15,974,466	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dchs2	G	A	3: 83,270,477	V946M	probably damaging	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Myh7	T	C	14: 54,975,997	T1351A	probably benign	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdhb3	T	A	18: 37,302,113	D377E	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Pramel1	T	G	4: 143,398,529	L341R	probably damaging	Het
Rhot2	A	T	17: 25,841,766	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Vwa3a	A	G	7: 120,775,464	N333S	probably benign	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	possibly damaging	Het

Other mutations in Pcdh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Pcdh7	APN	5	57721464	missense	probably damaging	1.00
IGL00920:Pcdh7	APN	5	57720131	missense	probably damaging	0.96
IGL00990:Pcdh7	APN	5	57720464	missense	possibly damaging	0.94
IGL01367:Pcdh7	APN	5	58129224	missense	possibly damaging	0.67
IGL01388:Pcdh7	APN	5	57720204	missense	probably damaging	1.00
IGL01543:Pcdh7	APN	5	57720765	missense	probably damaging	1.00
IGL01750:Pcdh7	APN	5	57720422	missense	probably damaging	1.00
IGL02010:Pcdh7	APN	5	58129255	missense	probably benign
IGL02014:Pcdh7	APN	5	57719703	missense	probably benign	0.03
IGL02269:Pcdh7	APN	5	57913322	missense	probably damaging	1.00
IGL03051:Pcdh7	APN	5	58129073	missense	probably damaging	0.99
floated	UTSW	5	57721362	missense	probably damaging	1.00
proposed	UTSW	5	57722240	missense	probably damaging	0.99
P0037:Pcdh7	UTSW	5	57913248	missense	probably benign	0.17
R0003:Pcdh7	UTSW	5	57913248	missense	probably benign	0.17
R0421:Pcdh7	UTSW	5	57720060	missense	probably damaging	1.00
R0551:Pcdh7	UTSW	5	57721994	missense	probably damaging	0.99
R0562:Pcdh7	UTSW	5	57720063	missense	probably damaging	0.99
R0732:Pcdh7	UTSW	5	57721315	missense	probably damaging	1.00
R0755:Pcdh7	UTSW	5	57720322	missense	possibly damaging	0.86
R1080:Pcdh7	UTSW	5	57719426	missense	probably damaging	1.00
R1381:Pcdh7	UTSW	5	57721540	nonsense	probably null
R1591:Pcdh7	UTSW	5	57720422	missense	probably damaging	1.00
R1891:Pcdh7	UTSW	5	57720875	missense	probably damaging	0.98
R2011:Pcdh7	UTSW	5	57719629	missense	probably damaging	1.00
R2140:Pcdh7	UTSW	5	58128996	missense	probably damaging	1.00
R2147:Pcdh7	UTSW	5	58129116	missense	possibly damaging	0.51
R2848:Pcdh7	UTSW	5	57720276	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57721894	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57721894	missense	probably damaging	1.00
R3719:Pcdh7	UTSW	5	58129032	missense	probably damaging	1.00
R4075:Pcdh7	UTSW	5	57721808	missense	probably damaging	1.00
R4231:Pcdh7	UTSW	5	57719289	missense	possibly damaging	0.94
R4236:Pcdh7	UTSW	5	57719289	missense	possibly damaging	0.94
R4352:Pcdh7	UTSW	5	57722019	missense	possibly damaging	0.88
R4420:Pcdh7	UTSW	5	58129170	missense	probably benign	0.03
R4449:Pcdh7	UTSW	5	57720485	missense	probably damaging	1.00
R4584:Pcdh7	UTSW	5	57721283	missense	probably damaging	1.00
R4686:Pcdh7	UTSW	5	58129169	missense	probably benign
R4837:Pcdh7	UTSW	5	57720411	missense	possibly damaging	0.89
R4838:Pcdh7	UTSW	5	57720804	missense	probably damaging	1.00
R4947:Pcdh7	UTSW	5	57721916	missense	probably damaging	0.98
R5053:Pcdh7	UTSW	5	57721601	missense	probably damaging	0.99
R5068:Pcdh7	UTSW	5	57722166	missense	probably damaging	1.00
R5117:Pcdh7	UTSW	5	57721748	missense	probably benign	0.09
R5132:Pcdh7	UTSW	5	57728121	missense	probably benign
R5248:Pcdh7	UTSW	5	58129173	missense	probably damaging	0.97
R5294:Pcdh7	UTSW	5	57728111	splice site	probably null
R5420:Pcdh7	UTSW	5	57720187	missense	probably damaging	1.00
R5777:Pcdh7	UTSW	5	57719514	missense	probably damaging	1.00
R5800:Pcdh7	UTSW	5	57722225	missense	probably damaging	1.00
R5834:Pcdh7	UTSW	5	57721628	missense	possibly damaging	0.90
R5870:Pcdh7	UTSW	5	57720411	missense	possibly damaging	0.89
R5917:Pcdh7	UTSW	5	57721755	missense	probably damaging	0.96
R6014:Pcdh7	UTSW	5	57721155	missense	probably damaging	0.99
R6193:Pcdh7	UTSW	5	57720324	missense	probably damaging	1.00
R6240:Pcdh7	UTSW	5	57721362	missense	probably damaging	1.00
R6335:Pcdh7	UTSW	5	57942265	splice site	probably null
R6418:Pcdh7	UTSW	5	57721704	missense	probably damaging	1.00
R6907:Pcdh7	UTSW	5	57719129	missense	possibly damaging	0.53
R7058:Pcdh7	UTSW	5	57722240	missense	probably damaging	0.99
R7069:Pcdh7	UTSW	5	57719784	missense	probably benign	0.00
R7073:Pcdh7	UTSW	5	57720957	missense	probably benign	0.19
R7463:Pcdh7	UTSW	5	57720998	missense	probably benign	0.06
R7509:Pcdh7	UTSW	5	57720187	missense	probably damaging	1.00
R7588:Pcdh7	UTSW	5	57719904	missense	probably damaging	1.00
R7707:Pcdh7	UTSW	5	57720330	missense	probably damaging	0.99
R7734:Pcdh7	UTSW	5	57719634	missense	probably damaging	0.99
R7899:Pcdh7	UTSW	5	57719810	missense	probably benign
R8194:Pcdh7	UTSW	5	57720336	missense	probably damaging	1.00
R8480:Pcdh7	UTSW	5	58129065	missense	probably damaging	1.00
R8890:Pcdh7	UTSW	5	57719375	missense	probably damaging	1.00
R8906:Pcdh7	UTSW	5	57721812	missense	probably damaging	1.00
R8990:Pcdh7	UTSW	5	57722022	missense	probably benign	0.06
R9272:Pcdh7	UTSW	5	57721437	missense	possibly damaging	0.81
R9294:Pcdh7	UTSW	5	57721335	missense	probably benign	0.39
R9518:Pcdh7	UTSW	5	57913171	missense	possibly damaging	0.81
R9597:Pcdh7	UTSW	5	57719855	missense	possibly damaging	0.68
R9642:Pcdh7	UTSW	5	57719375	missense	probably damaging	1.00
R9745:Pcdh7	UTSW	5	57722280	critical splice donor site	probably null
X0021:Pcdh7	UTSW	5	57721484	missense	possibly damaging	0.95
X0026:Pcdh7	UTSW	5	57719379	missense	probably damaging	1.00
Z1177:Pcdh7	UTSW	5	57719664	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGTTGATGAACGAGGAAGCC -3'
(R):5'- GTACACTGTCATCAGGCAAACAG -3'

Sequencing Primer
(F):5'- GCCAGGAAAAGCTGGCC -3'
(R):5'- CAGTAACACTAAAGGCCTGATTTGG -3'

Posted On

2022-03-25