Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Pcdhb16'

219317

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb16

Ensembl Gene

ENSMUSG00000047910

Gene Name

protocadherin beta 16

Synonyms

Pcdhb8, PcdhbP

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37610867-37616091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37611316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 92 (D92G)

Ref Sequence

ENSEMBL: ENSMUSP00000056347 (fasta)

Gene Model

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

AlphaFold

Q91Y03

Predicted Effect

probably benign
Transcript: ENSMUST00000050034

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033

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 damaging
Transcript: ENSMUST00000051442
AA Change: D92G

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

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
AA Change: D92G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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 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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly damaging	Het

Other mutations in Pcdhb16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pcdhb16	APN	18	37,611,623 (GRCm39)	missense	possibly damaging	0.95
IGL00540:Pcdhb16	APN	18	37,612,851 (GRCm39)	missense	probably damaging	1.00
IGL01380:Pcdhb16	APN	18	37,612,498 (GRCm39)	missense	probably benign	0.30
IGL02043:Pcdhb16	APN	18	37,612,248 (GRCm39)	missense	probably benign	0.05
IGL02103:Pcdhb16	APN	18	37,613,161 (GRCm39)	missense	probably benign	0.19
IGL02151:Pcdhb16	APN	18	37,611,411 (GRCm39)	missense	possibly damaging	0.80
IGL02619:Pcdhb16	APN	18	37,611,270 (GRCm39)	nonsense	probably null
IGL02832:Pcdhb16	APN	18	37,611,527 (GRCm39)	missense	probably damaging	1.00
IGL03190:Pcdhb16	APN	18	37,612,396 (GRCm39)	missense	probably damaging	1.00
IGL03274:Pcdhb16	APN	18	37,612,285 (GRCm39)	missense	probably benign	0.04
IGL03292:Pcdhb16	APN	18	37,613,437 (GRCm39)	missense	probably damaging	0.99
BB008:Pcdhb16	UTSW	18	37,611,510 (GRCm39)	missense	possibly damaging	0.90
BB018:Pcdhb16	UTSW	18	37,611,510 (GRCm39)	missense	possibly damaging	0.90
R0076:Pcdhb16	UTSW	18	37,611,412 (GRCm39)	missense	probably damaging	1.00
R0423:Pcdhb16	UTSW	18	37,613,422 (GRCm39)	missense	probably benign	0.00
R1191:Pcdhb16	UTSW	18	37,612,926 (GRCm39)	missense	probably damaging	1.00
R1254:Pcdhb16	UTSW	18	37,612,348 (GRCm39)	missense	possibly damaging	0.67
R1417:Pcdhb16	UTSW	18	37,611,180 (GRCm39)	missense	probably benign	0.00
R1468:Pcdhb16	UTSW	18	37,611,142 (GRCm39)	missense	probably damaging	1.00
R1468:Pcdhb16	UTSW	18	37,611,142 (GRCm39)	missense	probably damaging	1.00
R1517:Pcdhb16	UTSW	18	37,611,151 (GRCm39)	missense	probably benign	0.03
R1645:Pcdhb16	UTSW	18	37,612,423 (GRCm39)	missense	probably benign	0.05
R1706:Pcdhb16	UTSW	18	37,612,705 (GRCm39)	missense	probably benign	0.26
R1770:Pcdhb16	UTSW	18	37,612,233 (GRCm39)	missense	probably damaging	1.00
R1809:Pcdhb16	UTSW	18	37,611,441 (GRCm39)	missense	probably damaging	0.99
R1946:Pcdhb16	UTSW	18	37,611,952 (GRCm39)	nonsense	probably null
R1967:Pcdhb16	UTSW	18	37,612,715 (GRCm39)	missense	probably damaging	1.00
R2220:Pcdhb16	UTSW	18	37,612,020 (GRCm39)	missense	probably benign	0.16
R2432:Pcdhb16	UTSW	18	37,612,983 (GRCm39)	missense	probably damaging	0.98
R3121:Pcdhb16	UTSW	18	37,611,271 (GRCm39)	missense	possibly damaging	0.55
R3692:Pcdhb16	UTSW	18	37,611,340 (GRCm39)	missense	probably benign	0.28
R3766:Pcdhb16	UTSW	18	37,611,249 (GRCm39)	nonsense	probably null
R3891:Pcdhb16	UTSW	18	37,612,422 (GRCm39)	missense	probably benign	0.19
R3892:Pcdhb16	UTSW	18	37,612,422 (GRCm39)	missense	probably benign	0.19
R4551:Pcdhb16	UTSW	18	37,612,887 (GRCm39)	missense	probably damaging	1.00
R4614:Pcdhb16	UTSW	18	37,613,398 (GRCm39)	missense	probably benign	0.22
R4716:Pcdhb16	UTSW	18	37,612,458 (GRCm39)	missense	probably benign	0.02
R4908:Pcdhb16	UTSW	18	37,612,894 (GRCm39)	splice site	probably null
R5185:Pcdhb16	UTSW	18	37,613,142 (GRCm39)	missense	possibly damaging	0.96
R5225:Pcdhb16	UTSW	18	37,613,011 (GRCm39)	missense	probably benign	0.02
R5422:Pcdhb16	UTSW	18	37,612,920 (GRCm39)	missense	probably damaging	1.00
R5939:Pcdhb16	UTSW	18	37,611,117 (GRCm39)	missense	probably benign
R6149:Pcdhb16	UTSW	18	37,612,208 (GRCm39)	missense	possibly damaging	0.95
R6647:Pcdhb16	UTSW	18	37,612,225 (GRCm39)	missense	possibly damaging	0.57
R7080:Pcdhb16	UTSW	18	37,611,516 (GRCm39)	nonsense	probably null
R7354:Pcdhb16	UTSW	18	37,611,177 (GRCm39)	missense	possibly damaging	0.79
R7413:Pcdhb16	UTSW	18	37,611,975 (GRCm39)	nonsense	probably null
R7459:Pcdhb16	UTSW	18	37,612,606 (GRCm39)	missense	probably benign	0.26
R7655:Pcdhb16	UTSW	18	37,612,458 (GRCm39)	missense	probably benign	0.02
R7656:Pcdhb16	UTSW	18	37,612,458 (GRCm39)	missense	probably benign	0.02
R7827:Pcdhb16	UTSW	18	37,611,904 (GRCm39)	missense	possibly damaging	0.95
R7921:Pcdhb16	UTSW	18	37,611,298 (GRCm39)	missense	probably damaging	1.00
R7931:Pcdhb16	UTSW	18	37,611,510 (GRCm39)	missense	possibly damaging	0.90
R8133:Pcdhb16	UTSW	18	37,611,185 (GRCm39)	missense	probably damaging	0.99
R8749:Pcdhb16	UTSW	18	37,612,392 (GRCm39)	missense	possibly damaging	0.66
R9468:Pcdhb16	UTSW	18	37,611,482 (GRCm39)	missense	probably damaging	0.99
R9540:Pcdhb16	UTSW	18	37,613,320 (GRCm39)	missense	probably benign	0.00
Z1176:Pcdhb16	UTSW	18	37,612,213 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAGGCGCTATTCTGTGG -3'
(R):5'- CCTACATCCATGTCCTGAGC -3'

Sequencing Primer
(F):5'- CGCTATTCTGTGGTGGAGGAAAAG -3'
(R):5'- ATGTAGCTCCAGGAAGACTGCTTTC -3'

Posted On

2014-08-25