Mutagenetix > Incidental Mutations

Incidental Mutation 'R7463:Pcdh7'

578552

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57717967-58133230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57720998 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 632 (K632E)

Ref Sequence

ENSEMBL: ENSMUSP00000142319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068110
AA Change: K632E

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: K632E

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: K632E

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: K632E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: K632E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199310

SMART Domains

Protein: ENSMUSP00000143387
Gene: ENSMUSG00000029108

Domain	Start	End	E-Value	Type
Pfam:Protocadherin	1	79	5.1e-40	PFAM
low complexity region	112	123	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	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
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
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'- ACTGGACTCCTCAGTGATGG -3'
(R):5'- AGTCTGATGTTCCCTGTCAAAAG -3'

Sequencing Primer
(F):5'- GGGGACTTTTGCCATCGATCC -3'
(R):5'- CCCTGTCAAAAGACATTGTGG -3'

Posted On

2019-10-07