Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Pcdhb22'

190375

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb22

Ensembl Gene

ENSMUSG00000073591

Gene Name

protocadherin beta 22

Synonyms

Pcdhb15, PcdhbV

MMRRC Submission

039742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37651402-37657532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37651553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 7 (H7L)

Ref Sequence

ENSEMBL: ENSMUSP00000141521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061405] [ENSMUST00000097609] [ENSMUST00000115661] [ENSMUST00000192409] [ENSMUST00000194544]

AlphaFold

Q91XZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000061405

SMART Domains

Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Cadherin_2	30	110	4.2e-30	PFAM
CA	153	238	1.8e-17	SMART
CA	262	343	1.54e-25	SMART
CA	367	448	1.03e-21	SMART
CA	472	558	3.41e-27	SMART
CA	588	669	1.54e-11	SMART
Pfam:Cadherin_C_2	686	769	1.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097609

SMART Domains

Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	28	110	5.8e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
Pfam:Cadherin_C_2	685	768	4.5e-28	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: ENSMUST00000192409
AA Change: H7L

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591
AA Change: H7L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	27	110	2.5e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
transmembrane domain	689	711	N/A	INTRINSIC

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,566,942 (GRCm39)	K152E	probably benign	Het
Adgrd1	T	C	5: 129,256,292 (GRCm39)	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,741,179 (GRCm39)	V95E	probably damaging	Het
Agbl5	G	A	5: 31,063,585 (GRCm39)	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,693,316 (GRCm39)	T201K	probably damaging	Het
Aox1	C	T	1: 58,116,633 (GRCm39)	A788V	probably benign	Het
Apob	T	C	12: 8,059,306 (GRCm39)	V2563A	probably damaging	Het
Atcay	G	A	10: 81,049,065 (GRCm39)	T179I	probably damaging	Het
Atf5	A	T	7: 44,462,707 (GRCm39)	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,134,659 (GRCm39)	T1205A	probably benign	Het
Atr	C	T	9: 95,753,129 (GRCm39)	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,241,453 (GRCm39)	E25G	possibly damaging	Het
Brap	T	C	5: 121,803,353 (GRCm39)		probably null	Het
C6	G	T	15: 4,820,452 (GRCm39)	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133 (GRCm39)	F180S	probably damaging	Het
Cd207	T	C	6: 83,649,818 (GRCm39)	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 179,894,789 (GRCm39)	C323F	probably damaging	Het
Cfap57	T	C	4: 118,428,901 (GRCm39)	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,948,581 (GRCm39)	Q297L	probably benign	Het
Coro7	A	T	16: 4,452,305 (GRCm39)		probably null	Het
Cpsf2	T	A	12: 101,965,801 (GRCm39)	Y589N	probably damaging	Het
Cpxm2	T	C	7: 131,661,563 (GRCm39)	Y408C	probably damaging	Het
Crocc	A	G	4: 140,753,410 (GRCm39)		probably null	Het
Cryzl1	A	C	16: 91,509,124 (GRCm39)	F59C	probably damaging	Het
Csmd2	T	C	4: 128,389,988 (GRCm39)	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,949,275 (GRCm39)	H147N	unknown	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,837,155 (GRCm39)	P966L	probably damaging	Het
Dpp9	T	A	17: 56,501,431 (GRCm39)	M594L	probably benign	Het
Dspp	C	A	5: 104,323,590 (GRCm39)	N244K	probably damaging	Het
Efcab8	T	A	2: 153,656,290 (GRCm39)		probably null	Het
Elapor2	C	T	5: 9,490,726 (GRCm39)	R579*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw17	A	G	13: 50,585,693 (GRCm39)	M299V	probably benign	Het
Fbxw7	T	A	3: 84,883,659 (GRCm39)	I530N	probably damaging	Het
Gp2	C	A	7: 119,050,808 (GRCm39)	D308Y	probably null	Het
Gpd2	G	A	2: 57,247,667 (GRCm39)	V537M	probably damaging	Het
Gpr18	T	A	14: 122,149,404 (GRCm39)	Y207F	probably damaging	Het
Grip1	A	T	10: 119,733,620 (GRCm39)	D20V	probably damaging	Het
Gzmf	A	C	14: 56,444,397 (GRCm39)	F59V	probably damaging	Het
H3c1	T	A	13: 23,945,964 (GRCm39)	I125F	probably damaging	Het
Igfn1	T	C	1: 135,883,311 (GRCm39)	I2732V	probably benign	Het
Ipo8	A	T	6: 148,684,226 (GRCm39)	D855E	probably benign	Het
Klrk1	A	T	6: 129,591,682 (GRCm39)		probably null	Het
Megf11	A	G	9: 64,602,694 (GRCm39)	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,812,495 (GRCm39)	Q12K	probably benign	Het
Mrgprf	T	C	7: 144,861,954 (GRCm39)	F172S	probably benign	Het
Mycbp2	G	A	14: 103,461,852 (GRCm39)	T1432I	probably damaging	Het
Nek11	A	C	9: 105,225,260 (GRCm39)	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,092,099 (GRCm39)	E9G	probably benign	Het
Nrxn1	T	C	17: 90,344,615 (GRCm39)	I433V	probably damaging	Het
Nup153	A	G	13: 46,847,450 (GRCm39)	C660R	probably damaging	Het
Or1o11	T	A	17: 37,757,091 (GRCm39)	Y226*	probably null	Het
Or2a25	T	C	6: 42,889,078 (GRCm39)	V207A	possibly damaging	Het
Or4z4	G	T	19: 12,076,245 (GRCm39)	P253T	probably damaging	Het
Or5h26	T	A	16: 58,988,264 (GRCm39)	M81L	probably benign	Het
P2rx7	T	A	5: 122,808,528 (GRCm39)	N303K	possibly damaging	Het
Pank4	T	C	4: 155,054,504 (GRCm39)	L159P	probably damaging	Het
Pdzd8	A	T	19: 59,289,771 (GRCm39)	I543N	probably benign	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prrc2b	C	A	2: 32,084,473 (GRCm39)	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827 (GRCm39)	C600R	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rfx6	T	A	10: 51,554,498 (GRCm39)	M113K	possibly damaging	Het
Rlf	A	T	4: 121,007,020 (GRCm39)	D653E	probably benign	Het
Rnf130	A	G	11: 49,978,213 (GRCm39)	D258G	possibly damaging	Het
Robo2	A	G	16: 73,753,411 (GRCm39)	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,533 (GRCm39)	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,313,850 (GRCm39)	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,378,925 (GRCm39)	D913E	probably benign	Het
Sfr1	G	T	19: 47,723,442 (GRCm39)	E315D	possibly damaging	Het
Smarca5	G	A	8: 81,435,849 (GRCm39)	R763*	probably null	Het
Sugct	A	C	13: 17,847,151 (GRCm39)	I44S	probably damaging	Het
Syce1l	A	G	8: 114,380,662 (GRCm39)		probably null	Het
Tbc1d8b	A	G	X: 138,634,829 (GRCm39)	I654V	probably benign	Het
Tcf23	T	A	5: 31,130,852 (GRCm39)	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,738,238 (GRCm39)		probably null	Het
Tmem158	T	C	9: 123,088,950 (GRCm39)	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,205 (GRCm39)	T332A	probably benign	Het
Trappc4	T	C	9: 44,318,508 (GRCm39)	T31A	probably benign	Het
Trim27	T	C	13: 21,372,235 (GRCm39)		probably null	Het
Ttyh2	T	A	11: 114,599,301 (GRCm39)	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,689,532 (GRCm39)	L578*	probably null	Het
Txndc11	C	A	16: 10,946,565 (GRCm39)	E83*	probably null	Het
Utp20	T	C	10: 88,585,159 (GRCm39)	K2635R	probably benign	Het
V1ra8	C	T	6: 90,180,304 (GRCm39)	T169I	probably damaging	Het
Vcl	G	A	14: 21,069,441 (GRCm39)	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,499,373 (GRCm39)	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,030,223 (GRCm39)	M683T	probably benign	Het
Xirp2	A	G	2: 67,340,215 (GRCm39)	I819V	probably benign	Het
Zfp735	T	C	11: 73,602,589 (GRCm39)	F511S	probably benign	Het
Zfp831	T	C	2: 174,487,683 (GRCm39)	V786A	probably benign	Het
Zfp992	T	A	4: 146,550,949 (GRCm39)	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,041,300 (GRCm39)	Q72P	probably damaging	Het

Other mutations in Pcdhb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pcdhb22	APN	18	37,653,185 (GRCm39)	missense	probably damaging	1.00
IGL00775:Pcdhb22	APN	18	37,652,795 (GRCm39)	missense	probably benign	0.09
IGL01414:Pcdhb22	APN	18	37,652,549 (GRCm39)	missense	probably damaging	1.00
IGL01819:Pcdhb22	APN	18	37,652,974 (GRCm39)	missense	probably damaging	1.00
IGL02232:Pcdhb22	APN	18	37,653,602 (GRCm39)	missense	probably damaging	1.00
IGL03226:Pcdhb22	APN	18	37,652,009 (GRCm39)	missense	probably damaging	1.00
chipper	UTSW	18	37,652,155 (GRCm39)	missense	probably benign	0.39
timber	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R0071:Pcdhb22	UTSW	18	37,653,131 (GRCm39)	missense	probably damaging	1.00
R0363:Pcdhb22	UTSW	18	37,652,213 (GRCm39)	missense	probably benign	0.01
R0454:Pcdhb22	UTSW	18	37,651,925 (GRCm39)	missense	probably damaging	0.99
R0624:Pcdhb22	UTSW	18	37,651,780 (GRCm39)	missense	probably benign	0.00
R0707:Pcdhb22	UTSW	18	37,651,904 (GRCm39)	missense	probably damaging	1.00
R0918:Pcdhb22	UTSW	18	37,653,067 (GRCm39)	missense	probably damaging	1.00
R1112:Pcdhb22	UTSW	18	37,652,821 (GRCm39)	missense	possibly damaging	0.61
R1299:Pcdhb22	UTSW	18	37,653,643 (GRCm39)	missense	probably damaging	0.99
R1351:Pcdhb22	UTSW	18	37,651,627 (GRCm39)	missense	probably benign	0.10
R1488:Pcdhb22	UTSW	18	37,652,941 (GRCm39)	missense	possibly damaging	0.79
R1595:Pcdhb22	UTSW	18	37,653,506 (GRCm39)	missense	probably damaging	1.00
R1725:Pcdhb22	UTSW	18	37,653,241 (GRCm39)	missense	probably benign	0.04
R1869:Pcdhb22	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R1871:Pcdhb22	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R1891:Pcdhb22	UTSW	18	37,652,357 (GRCm39)	missense	probably damaging	0.97
R4523:Pcdhb22	UTSW	18	37,653,474 (GRCm39)	missense	probably benign	0.05
R4825:Pcdhb22	UTSW	18	37,653,713 (GRCm39)	missense	possibly damaging	0.80
R4831:Pcdhb22	UTSW	18	37,653,615 (GRCm39)	missense	probably damaging	1.00
R4851:Pcdhb22	UTSW	18	37,652,087 (GRCm39)	missense	possibly damaging	0.89
R4978:Pcdhb22	UTSW	18	37,651,654 (GRCm39)	missense	probably benign	0.16
R5047:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5061:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5063:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5467:Pcdhb22	UTSW	18	37,653,188 (GRCm39)	missense	probably benign	0.02
R6005:Pcdhb22	UTSW	18	37,652,789 (GRCm39)	missense	possibly damaging	0.75
R6375:Pcdhb22	UTSW	18	37,651,357 (GRCm39)	intron	probably benign
R6418:Pcdhb22	UTSW	18	37,652,959 (GRCm39)	missense	possibly damaging	0.88
R6447:Pcdhb22	UTSW	18	37,653,269 (GRCm39)	missense	possibly damaging	0.91
R6748:Pcdhb22	UTSW	18	37,651,799 (GRCm39)	missense	probably damaging	0.99
R7195:Pcdhb22	UTSW	18	37,652,341 (GRCm39)	missense	probably damaging	1.00
R7243:Pcdhb22	UTSW	18	37,653,685 (GRCm39)	missense	probably benign	0.00
R7354:Pcdhb22	UTSW	18	37,653,311 (GRCm39)	missense	probably damaging	1.00
R7503:Pcdhb22	UTSW	18	37,652,155 (GRCm39)	missense	probably benign	0.39
R7765:Pcdhb22	UTSW	18	37,652,158 (GRCm39)	missense	probably damaging	0.99
R8201:Pcdhb22	UTSW	18	37,651,518 (GRCm39)	intron	probably benign
R8976:Pcdhb22	UTSW	18	37,651,396 (GRCm39)	intron	probably benign
R9059:Pcdhb22	UTSW	18	37,652,722 (GRCm39)	missense	probably damaging	1.00
R9072:Pcdhb22	UTSW	18	37,651,813 (GRCm39)	missense	probably damaging	1.00
R9082:Pcdhb22	UTSW	18	37,653,047 (GRCm39)	missense	probably damaging	1.00
R9299:Pcdhb22	UTSW	18	37,651,885 (GRCm39)	nonsense	probably null
R9725:Pcdhb22	UTSW	18	37,652,794 (GRCm39)	missense	probably damaging	0.99
R9796:Pcdhb22	UTSW	18	37,652,404 (GRCm39)	missense	possibly damaging	0.79
X0027:Pcdhb22	UTSW	18	37,653,904 (GRCm39)	missense	probably benign
Z1088:Pcdhb22	UTSW	18	37,652,398 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AGTGCTTCTTCAGATCCCAGGCAG -3'
(R):5'- AACGCAGTGCCAACAGGGCTATTC -3'

Sequencing Primer
(F):5'- TGGGAGCAGGCTATTAACTG -3'
(R):5'- GCCAACAGGGCTATTCTCTATG -3'

Posted On

2014-05-14