Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Pcdhb18'

199685

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb18

Ensembl Gene

ENSMUSG00000048347

Gene Name

protocadherin beta 18

Synonyms

Pcdhb9, PcdhbR

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

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

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37622524-37627558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37623822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 384 (H384L)

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: H384L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: H384L

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: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	probably null	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
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
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'- GGGGAAATCACTCTCAAAGCCTTGC -3'
(R):5'- GCATTGTCATTGTCGTCCAGCACC -3'

Sequencing Primer
(F):5'- CAAAGCCTTGCTTGACTATGAG -3'
(R):5'- CCTGTAAGGCTTCATAGTCCAGAG -3'

Posted On

2014-05-23