Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Pcdha1'

570062

Institutional Source

Beutler Lab

Gene Symbol

Pcdha1

Ensembl Gene

ENSMUSG00000103442

Gene Name

protocadherin alpha 1

Synonyms

MMRRC Submission

045433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37063338-37320710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37063702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 122 (V122A)

Ref Sequence

ENSEMBL: ENSMUSP00000068828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000193839]

AlphaFold

Q91Y21

Predicted Effect

probably damaging
Transcript: ENSMUST00000070797
AA Change: V122A

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

SMART Domains

Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: V122A

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC
Pfam:Cadherin_tail	797	931	5.3e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193839
AA Change: V122A

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

SMART Domains

Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: V122A

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	C	6: 83,139,353 (GRCm39)	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,872,327 (GRCm39)	D85G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abcg3	A	T	5: 105,116,100 (GRCm39)	F245I	probably benign	Het
Abhd17a	G	T	10: 80,419,991 (GRCm39)	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,456,058 (GRCm39)	D562V	probably damaging	Het
Akap7	C	A	10: 25,165,567 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,096,364 (GRCm39)	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,187,236 (GRCm39)	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,023,569 (GRCm39)	M231L	probably benign	Het
Apoh	A	G	11: 108,286,674 (GRCm39)	T33A	probably benign	Het
Atp13a5	T	C	16: 29,140,567 (GRCm39)	N330D	probably benign	Het
C1ql3	T	G	2: 13,015,589 (GRCm39)	M24L	probably benign	Het
Cacna1d	T	C	14: 29,845,014 (GRCm39)	N712S	probably benign	Het
Cbs	T	C	17: 31,838,113 (GRCm39)	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,924,517 (GRCm39)	D28G	probably damaging	Het
Ccp110	A	T	7: 118,323,798 (GRCm39)	Q679L	probably benign	Het
Ccz1	A	T	5: 143,935,000 (GRCm39)	L310H	probably damaging	Het
Cerkl	A	T	2: 79,259,104 (GRCm39)	D44E	probably damaging	Het
Cfap221	T	A	1: 119,922,828 (GRCm39)	E38V	possibly damaging	Het
Chia1	T	A	3: 106,039,331 (GRCm39)	*474R	probably null	Het
Clint1	C	T	11: 45,774,590 (GRCm39)	T32M	probably damaging	Het
Clk3	A	T	9: 57,668,239 (GRCm39)	F227L	probably damaging	Het
Col5a3	C	T	9: 20,705,242 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,426,873 (GRCm39)	I501T	probably benign	Het
Dag1	G	A	9: 108,086,292 (GRCm39)	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,809,647 (GRCm39)	W777R	probably damaging	Het
Deaf1	A	T	7: 140,902,871 (GRCm39)	V151D	probably damaging	Het
Dido1	A	T	2: 180,316,914 (GRCm39)	V631E	possibly damaging	Het
Dpp4	G	A	2: 62,189,245 (GRCm39)	Q429*	probably null	Het
Dscaml1	A	G	9: 45,664,214 (GRCm39)	R2030G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E2f8	T	A	7: 48,517,713 (GRCm39)	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,065,299 (GRCm39)	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,814,489 (GRCm39)	Y182C	probably damaging	Het
Epha6	G	T	16: 59,780,793 (GRCm39)	A636E	probably damaging	Het
Fancd2	G	A	6: 113,513,900 (GRCm39)	V95I	probably benign	Het
Fbln5	A	T	12: 101,727,075 (GRCm39)	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,306,968 (GRCm39)	Y219C	probably damaging	Het
Frem1	T	G	4: 82,912,359 (GRCm39)	K670T	probably damaging	Het
Fsip2	A	T	2: 82,809,711 (GRCm39)	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gbe1	A	G	16: 70,157,903 (GRCm39)	T101A	probably benign	Het
Gm5114	T	A	7: 39,058,180 (GRCm39)	I480F	probably damaging	Het
Gm7145	A	T	1: 117,913,842 (GRCm39)	R241S	probably damaging	Het
Gnal	G	A	18: 67,268,596 (GRCm39)	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,575,243 (GRCm39)	C46R	probably benign	Het
Gucy2c	A	T	6: 136,679,746 (GRCm39)	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,528,047 (GRCm39)	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450 (GRCm39)	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,447,874 (GRCm39)	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,181,457 (GRCm39)	R71K	probably damaging	Het
Mrm3	G	T	11: 76,140,726 (GRCm39)	V245L	probably damaging	Het
Nav3	T	A	10: 109,739,619 (GRCm39)	I117F	probably damaging	Het
Noc3l	A	T	19: 38,783,468 (GRCm39)	V636D	probably damaging	Het
Nwd1	A	T	8: 73,438,410 (GRCm39)	Q1486L	probably damaging	Het
Or10aa1	A	T	1: 173,870,419 (GRCm39)	K301M	probably damaging	Het
Or2y10	A	G	11: 49,455,329 (GRCm39)	T194A	possibly damaging	Het
Or3a10	G	T	11: 73,935,726 (GRCm39)	R125S	possibly damaging	Het
Or4c11c	T	G	2: 88,662,190 (GRCm39)	I243R	probably damaging	Het
Or6c5b	C	G	10: 129,245,852 (GRCm39)	L206V	possibly damaging	Het
Pax9	T	A	12: 56,742,647 (GRCm39)	M1K	probably null	Het
Pgpep1l	A	T	7: 67,887,469 (GRCm39)	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,443,022 (GRCm39)	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,631,214 (GRCm39)	R188W	probably damaging	Het
Ppp1r42	G	A	1: 10,039,082 (GRCm39)	P346L	probably benign	Het
Prdm8	T	A	5: 98,332,375 (GRCm39)	V92D	probably damaging	Het
Ripor2	C	A	13: 24,885,427 (GRCm39)	S554*	probably null	Het
Rps19	T	C	7: 24,584,571 (GRCm39)	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,817 (GRCm39)	I159F	probably benign	Het
Rusc1	C	A	3: 88,999,057 (GRCm39)	G242W	probably damaging	Het
Sarm1	A	G	11: 78,388,083 (GRCm39)	S68P	possibly damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,877,364 (GRCm39)	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,456,811 (GRCm39)	A600T	probably damaging	Het
Spta1	A	T	1: 174,050,915 (GRCm39)	H1798L	probably damaging	Het
Sulf2	T	G	2: 165,919,536 (GRCm39)	D804A	possibly damaging	Het
Suz12	A	T	11: 79,910,529 (GRCm39)	E316D	probably benign	Het
Tbrg4	A	G	11: 6,570,065 (GRCm39)	S270P	probably benign	Het
Tecta	T	C	9: 42,248,628 (GRCm39)	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,072,223 (GRCm39)	F390I	probably damaging	Het
Tpr	C	A	1: 150,269,245 (GRCm39)	A70E	unknown	Het
Trpv4	G	C	5: 114,774,520 (GRCm39)	P188R	probably benign	Het
Txlna	A	C	4: 129,525,953 (GRCm39)	L298R	probably damaging	Het
Ubr4	T	C	4: 139,140,749 (GRCm39)	S1223P	probably benign	Het
Ucp1	A	T	8: 84,021,881 (GRCm39)	T238S	probably damaging	Het
Ush2a	A	G	1: 188,147,943 (GRCm39)	S957G	probably benign	Het
Usp34	A	G	11: 23,438,868 (GRCm39)	N3496D		Het
Vmn2r50	T	C	7: 9,784,277 (GRCm39)		probably null	Het
Wdr54	A	G	6: 83,131,921 (GRCm39)	V130A	probably benign	Het
Zfp692	A	T	11: 58,202,331 (GRCm39)	E362V	probably damaging	Het
Zfp811	A	G	17: 33,016,487 (GRCm39)	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,419,049 (GRCm39)	C633W	probably benign	Het

Other mutations in Pcdha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Pcdha1	APN	18	37,065,228 (GRCm39)	missense	probably damaging	0.99
R0062:Pcdha1	UTSW	18	37,139,681 (GRCm39)	missense	probably benign	0.08
R0108:Pcdha1	UTSW	18	37,131,809 (GRCm39)	missense	probably benign
R0543:Pcdha1	UTSW	18	37,318,121 (GRCm39)	missense	probably damaging	1.00
R1599:Pcdha1	UTSW	18	37,318,290 (GRCm39)	missense	probably damaging	1.00
R1717:Pcdha1	UTSW	18	37,065,237 (GRCm39)	missense	probably benign	0.01
R2301:Pcdha1	UTSW	18	37,289,236 (GRCm39)	missense	probably damaging	1.00
R3038:Pcdha1	UTSW	18	37,064,064 (GRCm39)	missense	probably damaging	1.00
R3086:Pcdha1	UTSW	18	37,064,001 (GRCm39)	missense	possibly damaging	0.95
R3693:Pcdha1	UTSW	18	37,065,361 (GRCm39)	missense	possibly damaging	0.95
R3783:Pcdha1	UTSW	18	37,063,855 (GRCm39)	missense	probably damaging	1.00
R3881:Pcdha1	UTSW	18	37,064,454 (GRCm39)	missense	possibly damaging	0.91
R4012:Pcdha1	UTSW	18	37,064,189 (GRCm39)	missense	probably benign	0.02
R4540:Pcdha1	UTSW	18	37,064,680 (GRCm39)	missense	probably damaging	1.00
R4597:Pcdha1	UTSW	18	37,064,959 (GRCm39)	missense	possibly damaging	0.64
R4678:Pcdha1	UTSW	18	37,063,965 (GRCm39)	missense	probably benign	0.00
R4998:Pcdha1	UTSW	18	37,065,469 (GRCm39)	missense	probably damaging	1.00
R5466:Pcdha1	UTSW	18	37,065,312 (GRCm39)	missense	possibly damaging	0.73
R5518:Pcdha1	UTSW	18	37,065,415 (GRCm39)	missense	probably benign	0.23
R5673:Pcdha1	UTSW	18	37,063,726 (GRCm39)	missense	probably damaging	1.00
R5925:Pcdha1	UTSW	18	37,063,724 (GRCm39)	missense	probably damaging	1.00
R5942:Pcdha1	UTSW	18	37,063,444 (GRCm39)	missense	probably damaging	1.00
R5963:Pcdha1	UTSW	18	37,064,224 (GRCm39)	missense	probably damaging	0.99
R6034:Pcdha1	UTSW	18	37,063,651 (GRCm39)	missense	probably damaging	1.00
R6034:Pcdha1	UTSW	18	37,063,651 (GRCm39)	missense	probably damaging	1.00
R6107:Pcdha1	UTSW	18	37,065,354 (GRCm39)	missense	probably benign	0.00
R6329:Pcdha1	UTSW	18	37,065,301 (GRCm39)	missense	probably damaging	1.00
R6479:Pcdha1	UTSW	18	37,064,509 (GRCm39)	missense	probably benign	0.28
R6503:Pcdha1	UTSW	18	37,064,724 (GRCm39)	missense	probably damaging	1.00
R6907:Pcdha1	UTSW	18	37,064,124 (GRCm39)	missense	probably benign	0.01
R7011:Pcdha1	UTSW	18	37,063,588 (GRCm39)	missense	probably damaging	1.00
R7030:Pcdha1	UTSW	18	37,292,326 (GRCm39)	missense	probably damaging	0.97
R7314:Pcdha1	UTSW	18	37,064,553 (GRCm39)	missense	probably damaging	0.99
R7699:Pcdha1	UTSW	18	37,064,115 (GRCm39)	missense	probably damaging	0.98
R7700:Pcdha1	UTSW	18	37,064,115 (GRCm39)	missense	probably damaging	0.98
R7768:Pcdha1	UTSW	18	37,065,220 (GRCm39)	missense	probably damaging	1.00
R7780:Pcdha1	UTSW	18	37,065,511 (GRCm39)	missense	probably benign	0.28
R7800:Pcdha1	UTSW	18	37,064,426 (GRCm39)	missense	probably damaging	1.00
R7917:Pcdha1	UTSW	18	37,065,254 (GRCm39)	missense	possibly damaging	0.64
R8325:Pcdha1	UTSW	18	37,063,867 (GRCm39)	missense	possibly damaging	0.47
R8699:Pcdha1	UTSW	18	37,064,076 (GRCm39)	missense	probably benign	0.00
R9400:Pcdha1	UTSW	18	37,064,760 (GRCm39)	missense	probably benign	0.43
R9513:Pcdha1	UTSW	18	37,065,286 (GRCm39)	missense	probably benign	0.26
R9746:Pcdha1	UTSW	18	37,065,713 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATTCAGGGTGGCGTCCAAG -3'
(R):5'- AGTTCAAGCGAAAGGGATTTACTG -3'

Sequencing Primer
(F):5'- GTGGCGTCCAAGGATCG -3'
(R):5'- TCAAGCGAAAGGGATTTACTGAGTTC -3'

Posted On

2019-09-13