Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Pcdhb18'

672391

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb18

Ensembl Gene

ENSMUSG00000048347

Gene Name

protocadherin beta 18

Synonyms

Pcdhb9, PcdhbR

MMRRC Submission

068725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37622524-37627558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37623374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 235 (I235V)

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: I235V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: I235V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,452 (GRCm39)	S1408P	probably damaging	Het
Acap3	T	C	4: 155,990,169 (GRCm39)	V783A	probably damaging	Het
Akap8	T	C	17: 32,525,504 (GRCm39)	N525S	probably damaging	Het
Aqp1	C	T	6: 55,313,606 (GRCm39)	T44M	probably damaging	Het
Arap1	T	C	7: 101,053,585 (GRCm39)	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,300,651 (GRCm39)	S743A	probably benign	Het
AW551984	G	T	9: 39,511,307 (GRCm39)	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,164,587 (GRCm39)	P802T	possibly damaging	Het
Brd8	C	A	18: 34,743,002 (GRCm39)	V288L	probably benign	Het
Carmil2	T	C	8: 106,412,947 (GRCm39)		probably null	Het
Catspere2	G	A	1: 177,905,048 (GRCm39)	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,542,737 (GRCm39)	R379Q	probably benign	Het
Cd200l1	T	C	16: 45,264,199 (GRCm39)	T120A	probably benign	Het
Cdh16	A	G	8: 105,341,136 (GRCm39)	L116P	probably damaging	Het
Cenpj	A	T	14: 56,796,076 (GRCm39)	H260Q	possibly damaging	Het
Cenpq	A	G	17: 41,244,027 (GRCm39)	V17A	possibly damaging	Het
Cep350	T	C	1: 155,803,862 (GRCm39)	K1074E	probably damaging	Het
Chil4	C	A	3: 106,109,121 (GRCm39)	C394F	probably damaging	Het
Chst9	T	C	18: 15,850,983 (GRCm39)	I28V	probably benign	Het
Clasp2	C	A	9: 113,728,649 (GRCm39)	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,158,269 (GRCm39)	M45K	probably benign	Het
Cmya5	T	A	13: 93,200,048 (GRCm39)	T3427S	possibly damaging	Het
Cnih4	A	G	1: 180,989,777 (GRCm39)	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,281,506 (GRCm39)	M529K	probably damaging	Het
Crppa	A	T	12: 36,440,481 (GRCm39)	N130Y	probably damaging	Het
Ctsr	T	A	13: 61,309,639 (GRCm39)	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 95,945,153 (GRCm39)	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,613,265 (GRCm39)	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,926,764 (GRCm39)	I226F	probably benign	Het
Efcab3	A	T	11: 104,805,721 (GRCm39)	N3076I	unknown	Het
Ehd2	A	G	7: 15,691,603 (GRCm39)	V243A	probably benign	Het
Etnk2	T	A	1: 133,306,232 (GRCm39)	Y353N	probably benign	Het
Fgg	G	T	3: 82,920,322 (GRCm39)	G367V	probably damaging	Het
Gm9772	T	C	17: 22,225,310 (GRCm39)	*61Q	probably null	Het
Grk5	T	G	19: 61,078,432 (GRCm39)	D496E	possibly damaging	Het
Hc	T	C	2: 34,909,535 (GRCm39)	N915S	probably benign	Het
Iah1	G	T	12: 21,367,388 (GRCm39)	Q31H	probably benign	Het
Insr	T	C	8: 3,219,714 (GRCm39)	D936G	probably benign	Het
Ints6	A	C	14: 62,939,902 (GRCm39)	V596G	probably benign	Het
Kcnj16	A	G	11: 110,915,677 (GRCm39)	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,706,771 (GRCm39)	I928F	probably damaging	Het
Lrrc41	C	T	4: 115,932,488 (GRCm39)		probably benign	Het
Lrrc8e	G	A	8: 4,285,070 (GRCm39)	V432I	probably benign	Het
Mamdc4	T	C	2: 25,458,501 (GRCm39)	E336G	probably benign	Het
Maml2	C	A	9: 13,532,918 (GRCm39)	Q711K		Het
Map3k14	T	C	11: 103,118,498 (GRCm39)	T563A	possibly damaging	Het
Mcu	T	A	10: 59,303,535 (GRCm39)	K101*	probably null	Het
Mettl22	T	A	16: 8,303,792 (GRCm39)	V286E	probably damaging	Het
Mon2	A	T	10: 122,845,516 (GRCm39)	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,587,851 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,170,344 (GRCm39)	L117F	probably damaging	Het
Myo1d	C	A	11: 80,565,758 (GRCm39)	V356F	probably damaging	Het
Myo1d	T	A	11: 80,567,758 (GRCm39)	I241F	probably benign	Het
Naalad2	A	T	9: 18,297,230 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,552,853 (GRCm39)	T113A	probably benign	Het
Nrap	T	A	19: 56,352,843 (GRCm39)		probably benign	Het
Or10b1	G	A	10: 78,356,284 (GRCm39)	V281M	possibly damaging	Het
Or2z2	T	C	11: 58,345,936 (GRCm39)	T280A	possibly damaging	Het
Or56b2	T	A	7: 104,337,387 (GRCm39)	I55N	probably damaging	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or5w1	T	C	2: 87,486,591 (GRCm39)	I225V	possibly damaging	Het
Or6z3	T	C	7: 6,463,763 (GRCm39)	L85P	probably damaging	Het
Osbpl3	T	C	6: 50,328,852 (GRCm39)	D117G	probably damaging	Het
Parp9	C	T	16: 35,773,981 (GRCm39)	R318*	probably null	Het
Pex16	T	G	2: 92,209,366 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,248,034 (GRCm39)	M489L	probably benign	Het
Pmepa1	C	A	2: 173,069,628 (GRCm39)	G271V	probably damaging	Het
Safb	A	G	17: 56,910,579 (GRCm39)	E659G	unknown	Het
Scn9a	T	C	2: 66,332,010 (GRCm39)	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,617,596 (GRCm39)	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,660,240 (GRCm39)	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,213,452 (GRCm39)	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,206,182 (GRCm39)	M315I	probably benign	Het
Slc9b2	A	G	3: 135,035,530 (GRCm39)	D333G	probably benign	Het
Sostdc1	A	G	12: 36,367,229 (GRCm39)	N135S	possibly damaging	Het
Spg11	T	G	2: 121,901,425 (GRCm39)	D1505A	probably damaging	Het
Spmip8	A	T	8: 96,047,883 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,869,279 (GRCm39)	N34S	probably benign	Het
Tcerg1l	C	A	7: 137,811,526 (GRCm39)	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,518,763 (GRCm39)	K311R	probably benign	Het
Trbv16	T	G	6: 41,128,972 (GRCm39)	F52C	probably damaging	Het
Ttn	T	A	2: 76,726,016 (GRCm39)	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818 (GRCm39)	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,219,082 (GRCm39)	I192T	probably benign	Het
Vmn2r67	C	T	7: 84,786,346 (GRCm39)	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,784,121 (GRCm39)	H452N	possibly 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
R6209:Pcdhb18	UTSW	18	37,623,537 (GRCm39)	missense	probably benign	0.05
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
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'- ACAAGACTCAGATGGCGGAC -3'
(R):5'- TTGCTCGAATATCCTCAGAAGC -3'

Sequencing Primer
(F):5'- GGACGGAATGGCATCCAAAACTAC -3'
(R):5'- CAAGGCCTATTGGACTGT -3'

Posted On

2021-04-30