Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Pcdhb18'

503370

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb18

Ensembl Gene

ENSMUSG00000048347

Gene Name

protocadherin beta 18

Synonyms

Pcdhb9, PcdhbR

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37622524-37627558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37623537 bp (GRCm39)

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	probably damaging	Het

Other mutations in Pcdhb18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Pcdhb18	APN	18	37,624,984 (GRCm39)	missense	probably benign	0.35
IGL02651:Pcdhb18	APN	18	37,624,234 (GRCm39)	nonsense	probably null
IGL02721:Pcdhb18	APN	18	37,623,084 (GRCm39)	missense	probably benign	0.33
IGL02945:Pcdhb18	APN	18	37,623,048 (GRCm39)	missense	probably benign	0.34
IGL03030:Pcdhb18	APN	18	37,623,786 (GRCm39)	missense	probably damaging	1.00
IGL03346:Pcdhb18	APN	18	37,622,674 (GRCm39)	start codon destroyed	probably null	0.99
R0206:Pcdhb18	UTSW	18	37,623,240 (GRCm39)	missense	possibly damaging	0.80
R0208:Pcdhb18	UTSW	18	37,623,240 (GRCm39)	missense	possibly damaging	0.80
R0680:Pcdhb18	UTSW	18	37,623,347 (GRCm39)	missense	probably damaging	0.98
R1517:Pcdhb18	UTSW	18	37,622,673 (GRCm39)	start codon destroyed	probably null	1.00
R1519:Pcdhb18	UTSW	18	37,623,945 (GRCm39)	missense	probably damaging	1.00
R1597:Pcdhb18	UTSW	18	37,624,820 (GRCm39)	missense	probably benign	0.19
R1735:Pcdhb18	UTSW	18	37,623,822 (GRCm39)	missense	probably benign	0.00
R2089:Pcdhb18	UTSW	18	37,623,653 (GRCm39)	missense	probably damaging	0.99
R2091:Pcdhb18	UTSW	18	37,623,653 (GRCm39)	missense	probably damaging	0.99
R2091:Pcdhb18	UTSW	18	37,623,653 (GRCm39)	missense	probably damaging	0.99
R2206:Pcdhb18	UTSW	18	37,624,342 (GRCm39)	missense	probably damaging	0.99
R2207:Pcdhb18	UTSW	18	37,624,342 (GRCm39)	missense	probably damaging	0.99
R4773:Pcdhb18	UTSW	18	37,623,507 (GRCm39)	missense	probably damaging	1.00
R4837:Pcdhb18	UTSW	18	37,622,867 (GRCm39)	missense	probably damaging	1.00
R5271:Pcdhb18	UTSW	18	37,624,649 (GRCm39)	missense	possibly damaging	0.94
R5568:Pcdhb18	UTSW	18	37,624,853 (GRCm39)	missense	probably benign	0.44
R5647:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5648:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5690:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5692:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5812:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5813:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5928:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5929:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R5930:Pcdhb18	UTSW	18	37,624,988 (GRCm39)	missense	possibly damaging	0.63
R6255:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
R6602:Pcdhb18	UTSW	18	37,623,533 (GRCm39)	missense	probably damaging	0.99
R6699:Pcdhb18	UTSW	18	37,625,005 (GRCm39)	missense	probably benign	0.00
R7055:Pcdhb18	UTSW	18	37,623,864 (GRCm39)	missense	possibly damaging	0.64
R7197:Pcdhb18	UTSW	18	37,623,436 (GRCm39)	missense	probably benign	0.06
R7289:Pcdhb18	UTSW	18	37,623,700 (GRCm39)	missense	probably damaging	1.00
R7345:Pcdhb18	UTSW	18	37,624,976 (GRCm39)	missense	probably benign	0.19
R7403:Pcdhb18	UTSW	18	37,624,950 (GRCm39)	missense	probably benign	0.09
R7541:Pcdhb18	UTSW	18	37,624,662 (GRCm39)	missense	probably damaging	1.00
R7651:Pcdhb18	UTSW	18	37,624,046 (GRCm39)	missense	probably benign	0.00
R7670:Pcdhb18	UTSW	18	37,624,749 (GRCm39)	missense	probably damaging	1.00
R7673:Pcdhb18	UTSW	18	37,624,790 (GRCm39)	missense	probably benign	0.39
R7783:Pcdhb18	UTSW	18	37,622,874 (GRCm39)	missense	probably benign	0.01
R7819:Pcdhb18	UTSW	18	37,624,308 (GRCm39)	missense	possibly damaging	0.60
R7826:Pcdhb18	UTSW	18	37,623,995 (GRCm39)	missense	probably damaging	0.98
R7857:Pcdhb18	UTSW	18	37,624,364 (GRCm39)	missense	probably benign
R7866:Pcdhb18	UTSW	18	37,623,512 (GRCm39)	missense	probably damaging	0.99
R7895:Pcdhb18	UTSW	18	37,623,520 (GRCm39)	missense	probably benign	0.27
R8773:Pcdhb18	UTSW	18	37,624,562 (GRCm39)	missense	probably damaging	1.00
R8810:Pcdhb18	UTSW	18	37,623,374 (GRCm39)	missense	probably benign	0.00
R8891:Pcdhb18	UTSW	18	37,623,700 (GRCm39)	missense	probably damaging	1.00
R8938:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.00
R9303:Pcdhb18	UTSW	18	37,625,004 (GRCm39)	missense	probably benign
R9305:Pcdhb18	UTSW	18	37,625,004 (GRCm39)	missense	probably benign
R9525:Pcdhb18	UTSW	18	37,624,887 (GRCm39)	missense	probably damaging	1.00
R9608:Pcdhb18	UTSW	18	37,623,694 (GRCm39)	missense	probably damaging	1.00
R9696:Pcdhb18	UTSW	18	37,623,606 (GRCm39)	missense	possibly damaging	0.94
X0022:Pcdhb18	UTSW	18	37,623,326 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCACTGCACTTGATGGTGGG -3'
(R):5'- GTTCAGGGGCGTTGTCATTAAC -3'

Sequencing Primer
(F):5'- GGGACAGCCACTATACATATTCTGG -3'
(R):5'- CGTTGTCATTAACGTCTAAAACCCG -3'

Posted On

2018-02-27