Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Pcdhb13'

528839

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb13

Ensembl Gene

ENSMUSG00000047307

Gene Name

protocadherin beta 13

Synonyms

PcdhbM, Pcdbh6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37442500-37446209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37444775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 735 (H735Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y06

Predicted Effect

probably benign
Transcript: ENSMUST00000052387

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	1.4e-35	PFAM
CA	155	240	1.53e-20	SMART
CA	264	345	3.52e-29	SMART
CA	368	449	2.24e-22	SMART
CA	473	559	2.38e-26	SMART
CA	589	670	4.12e-12	SMART
Pfam:Cadherin_C_2	685	768	4.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056915
AA Change: H735Q

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: H735Q

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	58	130	5.5e-1	SMART
CA	154	239	8.55e-19	SMART
CA	263	343	3.36e-26	SMART
CA	366	447	2.24e-22	SMART
CA	471	557	1.08e-24	SMART
CA	587	668	1.25e-11	SMART
Pfam:Cadherin_C_2	685	768	2.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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 beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. 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 neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Pcdhb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Pcdhb13	APN	18	37443721	missense	possibly damaging	0.56
IGL00718:Pcdhb13	APN	18	37444821	missense	possibly damaging	0.91
IGL01143:Pcdhb13	APN	18	37442637	missense	probably benign	0.01
IGL01816:Pcdhb13	APN	18	37442975	missense	probably benign	0.00
IGL01916:Pcdhb13	APN	18	37443861	missense	possibly damaging	0.64
IGL02063:Pcdhb13	APN	18	37444229	missense	probably damaging	1.00
IGL02153:Pcdhb13	APN	18	37443685	missense	probably damaging	1.00
IGL02332:Pcdhb13	APN	18	37443582	missense	probably benign	0.32
IGL02407:Pcdhb13	APN	18	37443075	missense	probably damaging	1.00
IGL02423:Pcdhb13	APN	18	37444339	missense	possibly damaging	0.95
IGL02514:Pcdhb13	APN	18	37442991	missense	possibly damaging	0.80
IGL03025:Pcdhb13	APN	18	37442764	missense	probably damaging	1.00
IGL03227:Pcdhb13	APN	18	37443658	missense	probably damaging	0.98
IGL03233:Pcdhb13	APN	18	37444265	missense	probably damaging	0.96
IGL03239:Pcdhb13	APN	18	37442835	missense	probably damaging	0.97
R0046:Pcdhb13	UTSW	18	37444257	missense	probably benign
R0172:Pcdhb13	UTSW	18	37442937	missense	probably benign	0.00
R0201:Pcdhb13	UTSW	18	37442581	missense	probably benign
R0594:Pcdhb13	UTSW	18	37443931	missense	probably damaging	1.00
R1235:Pcdhb13	UTSW	18	37444959	makesense	probably null
R1292:Pcdhb13	UTSW	18	37443832	missense	probably benign	0.43
R1481:Pcdhb13	UTSW	18	37442836	missense	probably damaging	1.00
R1991:Pcdhb13	UTSW	18	37443859	missense	possibly damaging	0.80
R2058:Pcdhb13	UTSW	18	37444567	missense	possibly damaging	0.95
R3508:Pcdhb13	UTSW	18	37443151	missense	probably damaging	0.99
R3713:Pcdhb13	UTSW	18	37443733	missense	probably damaging	1.00
R4125:Pcdhb13	UTSW	18	37443820	missense	probably damaging	1.00
R4741:Pcdhb13	UTSW	18	37443518	missense	probably benign	0.01
R4747:Pcdhb13	UTSW	18	37444815	missense	probably damaging	0.99
R4957:Pcdhb13	UTSW	18	37444784	missense	possibly damaging	0.95
R4973:Pcdhb13	UTSW	18	37443184	missense	probably benign	0.20
R5354:Pcdhb13	UTSW	18	37444791	missense	probably damaging	1.00
R5364:Pcdhb13	UTSW	18	37443508	missense	probably damaging	1.00
R5544:Pcdhb13	UTSW	18	37443520	missense	possibly damaging	0.92
R5897:Pcdhb13	UTSW	18	37443211	missense	probably benign	0.42
R6174:Pcdhb13	UTSW	18	37443421	missense	possibly damaging	0.84
R6765:Pcdhb13	UTSW	18	37443610	missense	probably damaging	1.00
R6960:Pcdhb13	UTSW	18	37443456	missense	probably benign	0.45
R7144:Pcdhb13	UTSW	18	37443256	missense	probably damaging	1.00
R7225:Pcdhb13	UTSW	18	37444437	missense	possibly damaging	0.91
R7239:Pcdhb13	UTSW	18	37444644	missense	probably damaging	0.99
R7437:Pcdhb13	UTSW	18	37444675	missense	probably damaging	1.00
R7812:Pcdhb13	UTSW	18	37442592	missense	probably benign	0.00
R7964:Pcdhb13	UTSW	18	37444818	missense	possibly damaging	0.62
R8334:Pcdhb13	UTSW	18	37444800	missense	probably damaging	1.00
R8463:Pcdhb13	UTSW	18	37443234	missense	possibly damaging	0.94
R8476:Pcdhb13	UTSW	18	37444084	missense	probably damaging	1.00
R8501:Pcdhb13	UTSW	18	37444440	missense	probably damaging	1.00
R9248:Pcdhb13	UTSW	18	37444555	missense	probably damaging	1.00
R9569:Pcdhb13	UTSW	18	37443100	missense	probably damaging	1.00
X0023:Pcdhb13	UTSW	18	37443013	missense	probably damaging	1.00
X0028:Pcdhb13	UTSW	18	37444642	missense	possibly damaging	0.91
Z1176:Pcdhb13	UTSW	18	37443235	nonsense	probably null
Z1177:Pcdhb13	UTSW	18	37442580	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTCATGTGCTGCTGG -3'
(R):5'- AGCTATTCCGAAGAGTAGGACTTTC -3'

Sequencing Primer
(F):5'- TACCTGCCTCTGCCAGAG -3'
(R):5'- GGACTTTCCTCTGTGTTCCTCTCAG -3'

Posted On

2018-07-24