Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Pcdhb18'

506078

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb18

Ensembl Gene

ENSMUSG00000048347

Gene Name

protocadherin beta 18

Synonyms

PcdhbR, Pcdhb9

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37489465-37494505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37490484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 289 (R289Q)

Ref Sequence

ENSEMBL: ENSMUSP00000052113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y02

Predicted Effect

probably benign
Transcript: ENSMUST00000053856

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	31	112	5.8e-35	PFAM
CA	155	240	2.42e-18	SMART
CA	264	345	8.03e-24	SMART
CA	368	449	5.81e-21	SMART
CA	473	559	8.15e-25	SMART
CA	589	670	6.34e-13	SMART
Pfam:Cadherin_C_2	686	770	1.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055949
AA Change: R289Q

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: R289Q

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Cadherin_2	30	112	3.1e-34	PFAM
CA	155	240	7.97e-19	SMART
CA	264	345	6.27e-26	SMART
CA	368	449	2.63e-19	SMART
CA	473	559	7.09e-25	SMART
CA	589	670	2.87e-11	SMART
Pfam:Cadherin_C_2	687	771	7.9e-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

0.0907

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	Het

Other mutations in Pcdhb18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Pcdhb18	APN	18	37491931	missense	probably benign	0.35
IGL02651:Pcdhb18	APN	18	37491181	nonsense	probably null
IGL02721:Pcdhb18	APN	18	37490031	missense	probably benign	0.33
IGL02945:Pcdhb18	APN	18	37489995	missense	probably benign	0.34
IGL03030:Pcdhb18	APN	18	37490733	missense	probably damaging	1.00
IGL03346:Pcdhb18	APN	18	37489621	start codon destroyed	probably null	0.99
R0206:Pcdhb18	UTSW	18	37490187	missense	possibly damaging	0.80
R0208:Pcdhb18	UTSW	18	37490187	missense	possibly damaging	0.80
R0680:Pcdhb18	UTSW	18	37490294	missense	probably damaging	0.98
R1517:Pcdhb18	UTSW	18	37489620	start codon destroyed	probably null	1.00
R1519:Pcdhb18	UTSW	18	37490892	missense	probably damaging	1.00
R1597:Pcdhb18	UTSW	18	37491767	missense	probably benign	0.19
R1735:Pcdhb18	UTSW	18	37490769	missense	probably benign	0.00
R2089:Pcdhb18	UTSW	18	37490600	missense	probably damaging	0.99
R2091:Pcdhb18	UTSW	18	37490600	missense	probably damaging	0.99
R2091:Pcdhb18	UTSW	18	37490600	missense	probably damaging	0.99
R2206:Pcdhb18	UTSW	18	37491289	missense	probably damaging	0.99
R2207:Pcdhb18	UTSW	18	37491289	missense	probably damaging	0.99
R4773:Pcdhb18	UTSW	18	37490454	missense	probably damaging	1.00
R4837:Pcdhb18	UTSW	18	37489814	missense	probably damaging	1.00
R5271:Pcdhb18	UTSW	18	37491596	missense	possibly damaging	0.94
R5568:Pcdhb18	UTSW	18	37491800	missense	probably benign	0.44
R5647:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5648:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5690:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5692:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5812:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5813:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5928:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5929:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R5930:Pcdhb18	UTSW	18	37491935	missense	possibly damaging	0.63
R6209:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.05
R6602:Pcdhb18	UTSW	18	37490480	missense	probably damaging	0.99
R6699:Pcdhb18	UTSW	18	37491952	missense	probably benign	0.00
R7055:Pcdhb18	UTSW	18	37490811	missense	possibly damaging	0.64
R7197:Pcdhb18	UTSW	18	37490383	missense	probably benign	0.06
R7289:Pcdhb18	UTSW	18	37490647	missense	probably damaging	1.00
R7345:Pcdhb18	UTSW	18	37491923	missense	probably benign	0.19
R7403:Pcdhb18	UTSW	18	37491897	missense	probably benign	0.09
R7541:Pcdhb18	UTSW	18	37491609	missense	probably damaging	1.00
R7651:Pcdhb18	UTSW	18	37490993	missense	probably benign	0.00
R7670:Pcdhb18	UTSW	18	37491696	missense	probably damaging	1.00
R7673:Pcdhb18	UTSW	18	37491737	missense	probably benign	0.39
R7783:Pcdhb18	UTSW	18	37489821	missense	probably benign	0.01
R7819:Pcdhb18	UTSW	18	37491255	missense	possibly damaging	0.60
R7826:Pcdhb18	UTSW	18	37490942	missense	probably damaging	0.98
R7857:Pcdhb18	UTSW	18	37491311	missense	probably benign
R7866:Pcdhb18	UTSW	18	37490459	missense	probably damaging	0.99
R7895:Pcdhb18	UTSW	18	37490467	missense	probably benign	0.27
R8773:Pcdhb18	UTSW	18	37491509	missense	probably damaging	1.00
R8810:Pcdhb18	UTSW	18	37490321	missense	probably benign	0.00
R8891:Pcdhb18	UTSW	18	37490647	missense	probably damaging	1.00
R8938:Pcdhb18	UTSW	18	37490484	missense	probably benign	0.00
R9303:Pcdhb18	UTSW	18	37491951	missense	probably benign
R9305:Pcdhb18	UTSW	18	37491951	missense	probably benign
R9525:Pcdhb18	UTSW	18	37491834	missense	probably damaging	1.00
R9608:Pcdhb18	UTSW	18	37490641	missense	probably damaging	1.00
R9696:Pcdhb18	UTSW	18	37490553	missense	possibly damaging	0.94
X0022:Pcdhb18	UTSW	18	37490273	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTGGACATCAATGATAATGCCCC -3'
(R):5'- AACTGCCAGCACGGTTTCAG -3'

Sequencing Primer
(F):5'- CACAGTTTCCCCAAGAACTGTATG -3'
(R):5'- CGGTTTCAGGTGAGTTCTCAACAAC -3'

Posted On

2018-02-28