Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Pcdhb18'

400371

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb18

Ensembl Gene

ENSMUSG00000048347

Gene Name

protocadherin beta 18

Synonyms

PcdhbR, Pcdhb9

MMRRC Submission

042861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37489465-37494505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37491596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 660 (V660M)

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

possibly damaging
Transcript: ENSMUST00000055949
AA Change: V660M

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: V660M

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,579,847	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,895,147		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,615,530		noncoding transcript	Het
Adprh	A	T	16: 38,446,054	L242*	probably null	Het
Anapc1	G	A	2: 128,685,985	Q18*	probably null	Het
Bfar	T	C	16: 13,692,397		probably benign	Het
Bmp1	T	C	14: 70,508,128	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,623,629		probably benign	Het
Clock	A	G	5: 76,241,954	I349T	probably damaging	Het
Cox11	A	G	11: 90,643,732	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,702,838	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,187,688	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843	D48G	probably damaging	Het
Engase	G	T	11: 118,481,397	A172S	probably damaging	Het
F2	T	C	2: 91,635,121		probably benign	Het
Gcc2	T	C	10: 58,269,695	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm14548	A	T	7: 3,897,567	Y61*	probably null	Het
Gm20388	A	G	8: 122,271,133		probably benign	Het
Gm20671	T	C	5: 32,819,959	K1817R	possibly damaging	Het
Gm20939	T	A	17: 94,877,155	Y410*	probably null	Het
Gm27013	T	C	6: 130,676,915	Y528C	probably damaging	Het
Gm9992	T	C	17: 7,369,682	N149S	possibly damaging	Het
Il23r	T	C	6: 67,423,696	H550R	probably benign	Het
Iqgap1	A	T	7: 80,734,148	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,788,301	Y679F	probably damaging	Het
Megf8	A	T	7: 25,341,706	E1120V	probably damaging	Het
Mta1	A	G	12: 113,131,957	E518G	probably damaging	Het
Myo9a	A	G	9: 59,907,382	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,722,729	H66R	probably benign	Het
Ncor1	A	G	11: 62,340,545	V812A	probably damaging	Het
Ndnf	T	C	6: 65,703,666	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,705,132	T347I	probably benign	Het
Olfr1229	A	T	2: 89,282,953	F60Y	probably benign	Het
Olfr512	T	C	7: 108,714,217	L276S	probably damaging	Het
Pcdhb10	C	A	18: 37,413,169	Q433K	probably benign	Het
Pds5b	T	A	5: 150,723,353	N202K	possibly damaging	Het
Polk	T	C	13: 96,483,539	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,590,698	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,249,193	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156	M368I	probably benign	Het
Shroom3	T	C	5: 92,962,248	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,463,748	L226P	probably damaging	Het
St7l	A	T	3: 104,868,060	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329	N392I	probably benign	Het
Syngr1	T	A	15: 80,098,039	M9K	probably benign	Het
Taar2	T	C	10: 23,941,032	S157P	probably damaging	Het
Tagap1	G	T	17: 6,956,096	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,373,767	E976V	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Tnfaip2	A	G	12: 111,448,460		probably benign	Het
Ttn	C	T	2: 76,706,517	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,120,238	N15K	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zap70	T	A	1: 36,781,365	V547D	probably damaging	Het
Zfp146	G	T	7: 30,162,475	N47K	probably benign	Het
Znrf1	T	G	8: 111,609,344	M159R	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
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
R6255: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'- CATTCCAGCTACTCAAGGCC -3'
(R):5'- CAAGGTGTCCAGGAAAGTGTC -3'

Sequencing Primer
(F):5'- AGCTACTCAAGGCCACGGAG -3'
(R):5'- AAAGTGTCCCTCTGGCACG -3'

Posted On

2016-07-06