Mutagenetix > Incidental Mutation

Incidental Mutation 'R8194:Pcdh7'

635337

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57717967-58133230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57720336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 411 (N411I)

Ref Sequence

ENSEMBL: ENSMUSP00000142319 (fasta)

Gene Model

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

AlphaFold

A0A0A6YY83

Predicted Effect

probably damaging
Transcript: ENSMUST00000068110
AA Change: N411I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: N411I

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: N411I

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 damaging
Transcript: ENSMUST00000191837
AA Change: N411I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: N411I

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: 98.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	T	A	12: 71,060,115	Y320*	probably null	Het
Ash1l	T	A	3: 89,052,755	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,785,972	C55*	probably null	Het
Cacna1s	A	T	1: 136,077,692	N405I	probably benign	Het
Capn11	A	T	17: 45,633,399	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,218,380	R71G	probably benign	Het
Ccser2	G	A	14: 36,896,263	R772W	probably damaging	Het
Cenpf	T	A	1: 189,682,403	E172D	probably benign	Het
Cep85	T	C	4: 134,134,089	M627V	probably null	Het
Chd1	G	A	17: 17,374,475		probably benign	Het
Cnst	A	G	1: 179,610,194	H441R	probably benign	Het
Cyp2d11	G	T	15: 82,390,437	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,814,734	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,268	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,327,352		probably null	Het
Lama4	A	G	10: 39,078,720	S1090G	probably damaging	Het
Malrd1	A	G	2: 15,925,120	D1479G	unknown	Het
Man2a2	T	C	7: 80,361,018	K742E	probably benign	Het
Mapk8	A	T	14: 33,382,284	S392T	probably benign	Het
Mark3	T	C	12: 111,592,683	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,916,642	I219V	probably benign	Het
Mlycd	A	T	8: 119,407,593	E278V	probably benign	Het
Muc2	G	T	7: 141,704,252	C29F		Het
Mup20	T	C	4: 62,053,484	I77V	probably benign	Het
Myh3	A	G	11: 67,092,002	E849G	probably damaging	Het
Nedd4	A	G	9: 72,686,107	N154S	probably damaging	Het
Olfr397	A	T	11: 73,965,414	I269F	probably benign	Het
Plekhm1	A	G	11: 103,395,060	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,692,511	V19M	probably damaging	Het
Prss35	T	G	9: 86,755,613	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,455,925	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,926,444	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,613,841	Y139H	probably damaging	Het
Slc5a2	T	C	7: 128,271,156	V522A	probably benign	Het
Slc6a6	A	T	6: 91,740,971	Q297L	probably damaging	Het
Sos2	A	C	12: 69,598,824	Y914D	probably damaging	Het
Spata1	G	T	3: 146,489,859	T32N	possibly damaging	Het
Srcap	C	T	7: 127,539,197	R1180C	probably damaging	Het
St14	A	T	9: 31,131,625	M1K	probably null	Het
Tcaf1	T	C	6: 42,675,302	T749A	probably benign	Het
Tcp1	T	C	17: 12,922,734		probably null	Het
Tle6	A	G	10: 81,591,054	V576A	probably damaging	Het
Ttc25	G	A	11: 100,563,676	G429E	probably benign	Het
Usp17lc	T	A	7: 103,418,200	M234K	probably benign	Het
Washc4	A	G	10: 83,580,299	I818V	possibly damaging	Het
Zdhhc18	A	G	4: 133,613,854	L236P	probably damaging	Het
Zfp266	T	C	9: 20,500,314	D189G	probably benign	Het
Zfp474	A	T	18: 52,639,157	D294V	probably damaging	Het
Zfp568	T	C	7: 30,023,333	F568L	probably damaging	Het
Zfp93	A	G	7: 24,276,054	K488R	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
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
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
R9264:Pcdh7	UTSW	5	58129321	missense	probably benign	0.09
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'- GCCACCGATTTGGATGTAGG -3'
(R):5'- AACGTCTCCCACTACGGTAC -3'

Sequencing Primer
(F):5'- ATGTATTTGGGGCTGCCACC -3'
(R):5'- TCTCCCACTACGGTACAGGTG -3'

Posted On

2020-07-13