Mutagenetix > Incidental Mutation

Incidental Mutation 'R1779:Pcdhb15'

197402

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb15

Ensembl Gene

ENSMUSG00000047033

Gene Name

protocadherin beta 15

Synonyms

PcdhbO, Pcdhb7

MMRRC Submission

039810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37473540-37476340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37476031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 772 (I772T)

Ref Sequence

ENSEMBL: ENSMUSP00000059598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050034
AA Change: I772T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: I772T

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.6e-33	PFAM
CA	155	240	7.79e-22	SMART
CA	264	345	4.37e-25	SMART
CA	368	449	4.4e-21	SMART
CA	473	559	7.38e-23	SMART
CA	589	670	4.48e-13	SMART
Pfam:Cadherin_C_2	686	770	5.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051442

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	46	132	7.7e-1	SMART
CA	156	241	1.93e-17	SMART
CA	265	346	4.2e-27	SMART
CA	369	450	1.08e-24	SMART
CA	474	560	3.31e-25	SMART
CA	590	671	2.87e-11	SMART
Pfam:Cadherin_C_2	687	770	4.1e-27	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

Meta Mutation Damage Score

0.3140

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (101/104)

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. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,406,514	L476F	probably damaging	Het
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
4930432E11Rik	A	T	7: 29,579,166		noncoding transcript	Het
A930011G23Rik	A	T	5: 99,223,038		probably benign	Het
Abcd3	A	G	3: 121,781,963	Y217H	probably damaging	Het
Abraxas1	A	T	5: 100,817,956		probably benign	Het
Acsbg1	T	C	9: 54,616,062	Y427C	probably damaging	Het
Adam10	T	A	9: 70,776,369		probably benign	Het
Adam24	G	A	8: 40,680,965	V491I	possibly damaging	Het
Adamts2	T	G	11: 50,756,697	V299G	probably damaging	Het
Adh7	A	G	3: 138,223,991	T143A	probably damaging	Het
Ahcyl1	A	G	3: 107,674,103	S81P	probably benign	Het
Arhgap20	C	A	9: 51,849,915	T986K	probably benign	Het
Atp13a5	A	T	16: 29,314,660	I391N	possibly damaging	Het
Atp6v0a1	C	A	11: 101,026,685	A143E	probably benign	Het
Calcrl	A	G	2: 84,351,285	I173T	probably damaging	Het
Casz1	A	G	4: 148,932,937	T228A	probably benign	Het
Cckar	A	G	5: 53,699,979	I292T	probably damaging	Het
Cfhr2	T	A	1: 139,858,645		probably null	Het
Chkb	T	C	15: 89,429,057	I109V	possibly damaging	Het
Clec2i	T	C	6: 128,888,106		probably null	Het
Clec4a4	T	A	6: 123,023,975	W216R	probably damaging	Het
Cntnap1	A	C	11: 101,186,511	I1000L	probably damaging	Het
Cp	C	A	3: 19,957,385	D34E	possibly damaging	Het
Cse1l	T	C	2: 166,940,124		probably null	Het
Dennd3	T	C	15: 73,522,508		probably null	Het
Dnah7a	A	G	1: 53,577,223	V1193A	probably benign	Het
Eaf2	A	G	16: 36,810,470		probably null	Het
Ephb2	T	C	4: 136,693,825	T405A	possibly damaging	Het
Fam117a	G	A	11: 95,378,953	V348M	probably damaging	Het
Fh1	T	C	1: 175,601,424	*167W	probably null	Het
Fmo9	T	A	1: 166,663,299	I486F	probably benign	Het
Gabbr1	T	A	17: 37,054,879	I150N	probably damaging	Het
Gfpt1	T	C	6: 87,077,197	V478A	possibly damaging	Het
Gm11639	T	A	11: 104,720,939	S536T	probably benign	Het
Gm2663	A	T	6: 40,997,960	V59E	probably damaging	Het
Gm4868	T	A	5: 125,848,112		noncoding transcript	Het
Heatr4	T	A	12: 83,980,160	T108S	probably benign	Het
Hells	G	T	19: 38,946,842	A319S	probably benign	Het
Helz2	A	G	2: 181,234,987	V1238A	probably benign	Het
Helz2	T	A	2: 181,238,459	Q488L	possibly damaging	Het
Hkdc1	A	G	10: 62,391,383	F765S	probably damaging	Het
Hspg2	T	A	4: 137,518,509	W938R	probably damaging	Het
Itpr2	G	A	6: 146,158,901	R2473*	probably null	Het
Kctd1	C	T	18: 15,061,782	V595I	probably benign	Het
Krt7	A	G	15: 101,423,409	Y369C	probably damaging	Het
Krt72	T	C	15: 101,780,929	T323A	probably benign	Het
Krt76	A	G	15: 101,892,687	L58P	unknown	Het
Liph	C	A	16: 21,968,050	R272L	probably benign	Het
Lrrc9	A	T	12: 72,455,998	K248*	probably null	Het
Mei4	T	A	9: 81,927,142	S93T	probably damaging	Het
Mgll	T	A	6: 88,813,948	Y183*	probably null	Het
Myo5b	A	G	18: 74,742,147	M1541V	probably benign	Het
Napg	A	G	18: 62,982,691	E66G	probably benign	Het
Npr3	T	C	15: 11,851,486	D406G	probably damaging	Het
Nr2c2	A	G	6: 92,159,243	T355A	possibly damaging	Het
Olfr1243	A	T	2: 89,527,645	I255K	probably benign	Het
Olfr1461	T	C	19: 13,165,040	Y9H	probably benign	Het
Olfr26	A	G	9: 38,855,550	M163V	possibly damaging	Het
Olfr618	A	T	7: 103,597,900	I195F	probably damaging	Het
Olfr624	A	G	7: 103,670,638	I131T	probably benign	Het
Olfr631	G	T	7: 103,929,461	V213L	probably benign	Het
Olfr71	G	A	4: 43,706,041	H176Y	probably damaging	Het
Orai2	T	C	5: 136,150,939	E80G	probably damaging	Het
Pcdhb14	T	A	18: 37,449,482	V547E	probably damaging	Het
Pcnt	T	C	10: 76,408,796	Q1150R	probably damaging	Het
Pdcd6	A	G	13: 74,305,581	I146T	probably damaging	Het
Phldb2	T	A	16: 45,801,625	D664V	probably damaging	Het
Pik3ap1	A	T	19: 41,332,234	V182E	probably damaging	Het
Pip4k2a	A	G	2: 18,847,622	V283A	probably benign	Het
Pkdrej	A	G	15: 85,821,171	V188A	possibly damaging	Het
Pnpla6	T	C	8: 3,541,404	W1151R	probably damaging	Het
Ppp1r14c	A	G	10: 3,366,890	Y75C	probably damaging	Het
Prl2b1	C	T	13: 27,383,469	D224N	probably benign	Het
Ptgis	A	G	2: 167,214,858	S270P	probably benign	Het
Rgs11	C	A	17: 26,210,666	A446D	probably damaging	Het
Rims2	A	G	15: 39,681,702	T1531A	probably damaging	Het
Sbno1	A	T	5: 124,388,517		probably benign	Het
Scarb2	C	G	5: 92,448,557	M409I	probably benign	Het
Scube3	C	T	17: 28,168,379		probably benign	Het
Slc44a4	T	C	17: 34,921,925	I180T	probably damaging	Het
Slc9a2	T	C	1: 40,742,643	M344T	probably damaging	Het
Smc3	A	T	19: 53,639,369	T860S	probably benign	Het
Snrpa	A	G	7: 27,191,749	I99T	probably benign	Het
Sorcs1	A	G	19: 50,175,043		probably benign	Het
Sorl1	C	T	9: 41,991,482		probably null	Het
Suds3	T	C	5: 117,105,244	K143R	probably benign	Het
Supt20	A	T	3: 54,714,743	M424L	probably benign	Het
Tgtp2	T	C	11: 49,058,924	M274V	probably benign	Het
Tmem158	T	A	9: 123,259,909	M213L	probably benign	Het
Tnks	C	A	8: 34,857,518	R639L	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trmt10c	A	C	16: 56,034,575	N232K	possibly damaging	Het
Trpm6	C	T	19: 18,856,217	R1587W	probably damaging	Het
Trrap	G	A	5: 144,828,590	V2539I	probably benign	Het
Tsg101	A	G	7: 46,907,087	S115P	probably benign	Het
Ttll13	G	T	7: 80,260,508	V800L	probably benign	Het
Vmn1r57	A	G	7: 5,220,577	T34A	possibly damaging	Het
Vmn2r118	T	A	17: 55,611,530	T121S	probably benign	Het
Wdr35	A	G	12: 8,985,772	I238M	possibly damaging	Het
Wisp2	G	A	2: 163,828,986	V138M	probably damaging	Het
Zfp81	T	A	17: 33,335,106	T245S	probably benign	Het
Zfyve26	G	T	12: 79,278,463	P824Q	probably damaging	Het

Other mutations in Pcdhb15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Pcdhb15	APN	18	37,475,154 (GRCm38)	missense	probably damaging	1.00
IGL01536:Pcdhb15	APN	18	37,474,993 (GRCm38)	missense	probably benign	0.01
IGL01664:Pcdhb15	APN	18	37,474,261 (GRCm38)	missense	probably benign	0.35
IGL02001:Pcdhb15	APN	18	37,474,038 (GRCm38)	missense	probably benign	0.01
IGL02161:Pcdhb15	APN	18	37,475,502 (GRCm38)	missense	possibly damaging	0.78
IGL02205:Pcdhb15	APN	18	37,473,957 (GRCm38)	missense	probably damaging	0.99
IGL02748:Pcdhb15	APN	18	37,475,220 (GRCm38)	missense	probably damaging	0.98
IGL02828:Pcdhb15	APN	18	37,473,850 (GRCm38)	missense	probably damaging	0.97
IGL02974:Pcdhb15	APN	18	37,475,014 (GRCm38)	missense	probably damaging	1.00
IGL03119:Pcdhb15	APN	18	37,475,014 (GRCm38)	missense	probably damaging	1.00
IGL03136:Pcdhb15	APN	18	37,475,014 (GRCm38)	missense	probably damaging	1.00
IGL03150:Pcdhb15	APN	18	37,475,014 (GRCm38)	missense	probably damaging	1.00
PIT1430001:Pcdhb15	UTSW	18	37,475,671 (GRCm38)	missense	probably benign	0.15
R0266:Pcdhb15	UTSW	18	37,475,276 (GRCm38)	missense	probably damaging	1.00
R0288:Pcdhb15	UTSW	18	37,475,398 (GRCm38)	missense	probably damaging	1.00
R0399:Pcdhb15	UTSW	18	37,474,168 (GRCm38)	missense	possibly damaging	0.56
R0400:Pcdhb15	UTSW	18	37,475,895 (GRCm38)	missense	probably benign
R0554:Pcdhb15	UTSW	18	37,474,519 (GRCm38)	missense	probably damaging	1.00
R0637:Pcdhb15	UTSW	18	37,475,566 (GRCm38)	missense	probably damaging	1.00
R0714:Pcdhb15	UTSW	18	37,474,621 (GRCm38)	missense	probably damaging	0.98
R1118:Pcdhb15	UTSW	18	37,473,762 (GRCm38)	missense	probably benign	0.01
R1423:Pcdhb15	UTSW	18	37,473,922 (GRCm38)	missense	probably damaging	0.97
R1672:Pcdhb15	UTSW	18	37,474,660 (GRCm38)	missense	probably damaging	1.00
R1681:Pcdhb15	UTSW	18	37,473,813 (GRCm38)	missense	probably damaging	1.00
R2206:Pcdhb15	UTSW	18	37,475,022 (GRCm38)	missense	probably benign	0.05
R2207:Pcdhb15	UTSW	18	37,475,022 (GRCm38)	missense	probably benign	0.05
R2274:Pcdhb15	UTSW	18	37,475,443 (GRCm38)	missense	probably damaging	1.00
R3406:Pcdhb15	UTSW	18	37,475,389 (GRCm38)	missense	probably benign	0.41
R3407:Pcdhb15	UTSW	18	37,474,389 (GRCm38)	missense	possibly damaging	0.80
R3417:Pcdhb15	UTSW	18	37,475,163 (GRCm38)	missense	probably damaging	1.00
R3752:Pcdhb15	UTSW	18	37,473,757 (GRCm38)	missense	probably damaging	1.00
R3773:Pcdhb15	UTSW	18	37,475,890 (GRCm38)	missense	probably benign	0.00
R4432:Pcdhb15	UTSW	18	37,475,512 (GRCm38)	missense	probably damaging	1.00
R4433:Pcdhb15	UTSW	18	37,475,512 (GRCm38)	missense	probably damaging	1.00
R4583:Pcdhb15	UTSW	18	37,475,575 (GRCm38)	missense	possibly damaging	0.91
R4612:Pcdhb15	UTSW	18	37,475,595 (GRCm38)	missense	probably damaging	0.96
R4988:Pcdhb15	UTSW	18	37,475,802 (GRCm38)	missense	probably damaging	0.98
R5635:Pcdhb15	UTSW	18	37,473,770 (GRCm38)	nonsense	probably null
R5692:Pcdhb15	UTSW	18	37,474,449 (GRCm38)	missense	probably benign	0.01
R5742:Pcdhb15	UTSW	18	37,474,767 (GRCm38)	missense	probably damaging	0.99
R5913:Pcdhb15	UTSW	18	37,474,654 (GRCm38)	missense	probably benign	0.07
R6350:Pcdhb15	UTSW	18	37,475,361 (GRCm38)	missense	probably damaging	1.00
R6522:Pcdhb15	UTSW	18	37,474,261 (GRCm38)	missense	probably benign	0.35
R6676:Pcdhb15	UTSW	18	37,474,807 (GRCm38)	missense	possibly damaging	0.60
R6693:Pcdhb15	UTSW	18	37,474,341 (GRCm38)	missense	probably benign	0.01
R6905:Pcdhb15	UTSW	18	37,474,695 (GRCm38)	missense	possibly damaging	0.95
R7029:Pcdhb15	UTSW	18	37,475,568 (GRCm38)	missense	possibly damaging	0.85
R7335:Pcdhb15	UTSW	18	37,474,336 (GRCm38)	missense	probably damaging	1.00
R7529:Pcdhb15	UTSW	18	37,474,473 (GRCm38)	nonsense	probably null
R7718:Pcdhb15	UTSW	18	37,475,163 (GRCm38)	missense	probably damaging	1.00
R7782:Pcdhb15	UTSW	18	37,474,735 (GRCm38)	missense	possibly damaging	0.88
R7967:Pcdhb15	UTSW	18	37,474,849 (GRCm38)	missense	probably damaging	1.00
R8170:Pcdhb15	UTSW	18	37,475,584 (GRCm38)	missense	probably damaging	1.00
R8323:Pcdhb15	UTSW	18	37,475,662 (GRCm38)	missense	probably benign	0.18
R8725:Pcdhb15	UTSW	18	37,475,681 (GRCm38)	missense	probably damaging	0.99
R8820:Pcdhb15	UTSW	18	37,473,918 (GRCm38)	missense	probably benign	0.03
R9117:Pcdhb15	UTSW	18	37,475,037 (GRCm38)	missense	probably damaging	1.00
R9280:Pcdhb15	UTSW	18	37,474,741 (GRCm38)	missense	probably damaging	1.00
R9367:Pcdhb15	UTSW	18	37,474,918 (GRCm38)	missense	possibly damaging	0.95
R9424:Pcdhb15	UTSW	18	37,474,210 (GRCm38)	missense
R9432:Pcdhb15	UTSW	18	37,475,630 (GRCm38)	missense	probably benign	0.04
R9498:Pcdhb15	UTSW	18	37,473,837 (GRCm38)	nonsense	probably null
R9544:Pcdhb15	UTSW	18	37,475,895 (GRCm38)	missense	probably benign
X0062:Pcdhb15	UTSW	18	37,476,015 (GRCm38)	nonsense	probably null
X0063:Pcdhb15	UTSW	18	37,475,084 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGTTCGTTGGAGTAAGACTCTGC -3'
(R):5'- TGGCTTCTTCTGAAATAAAGAAGGCGAT -3'

Sequencing Primer
(F):5'- CTGCTTTGTGCCTGAAGAAC -3'
(R):5'- gacacagagagaccatgtcc -3'

Posted On

2014-05-23