Mutagenetix > Incidental Mutation

Incidental Mutation 'R7289:Pcdhb18'

566287

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb18

Ensembl Gene

ENSMUSG00000048347

Gene Name

protocadherin beta 18

Synonyms

Pcdhb9, PcdhbR

MMRRC Submission

045396-MU

Accession Numbers

Essential gene?

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

Stock #

R7289 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37622524-37627558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37623700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 343 (N343K)

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 damaging
Transcript: ENSMUST00000055949
AA Change: N343K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: N343K

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,818,550 (GRCm39)	D112N	probably damaging	Het
Abca7	T	A	10: 79,845,778 (GRCm39)	I1580K	probably damaging	Het
Aebp1	A	G	11: 5,815,059 (GRCm39)	D234G	probably damaging	Het
Agap1	T	A	1: 89,383,153 (GRCm39)	M1K	probably null	Het
Agrn	A	T	4: 156,263,389 (GRCm39)	L345H	probably damaging	Het
Amfr	A	G	8: 94,725,754 (GRCm39)	M209T	possibly damaging	Het
Angel2	G	A	1: 190,673,371 (GRCm39)	R338H	possibly damaging	Het
Ankrd27	C	T	7: 35,330,674 (GRCm39)	A866V	probably damaging	Het
Apc	G	A	18: 34,448,324 (GRCm39)	R1740Q	probably damaging	Het
Arhgap32	A	T	9: 32,168,233 (GRCm39)	S739C	possibly damaging	Het
Arhgap32	G	C	9: 32,168,234 (GRCm39)	S739T	probably benign	Het
Arhgef2	C	T	3: 88,543,192 (GRCm39)	S418L	probably benign	Het
Arhgef25	T	C	10: 127,019,641 (GRCm39)	T472A	possibly damaging	Het
Atrnl1	C	T	19: 57,638,846 (GRCm39)	S328F	probably benign	Het
Bahcc1	C	T	11: 120,171,000 (GRCm39)	A1514V	probably benign	Het
Calcoco2	C	T	11: 95,990,823 (GRCm39)	E305K	unknown	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdc42bpa	A	T	1: 179,889,362 (GRCm39)	K203*	probably null	Het
Cmc1	A	T	9: 117,904,250 (GRCm39)	I47N	possibly damaging	Het
Cntln	A	G	4: 84,964,540 (GRCm39)	E656G	possibly damaging	Het
Dcun1d3	T	C	7: 119,458,864 (GRCm39)	K57R	possibly damaging	Het
Ddx23	T	C	15: 98,546,492 (GRCm39)	E559G	probably damaging	Het
Dennd6a	G	A	14: 26,333,193 (GRCm39)	R367Q	probably damaging	Het
Desi2	A	T	1: 178,083,702 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,301,424 (GRCm39)	D2160G	unknown	Het
Efcab3	T	C	11: 104,929,184 (GRCm39)	M4838T	probably benign	Het
Epb41	A	G	4: 131,718,520 (GRCm39)		probably null	Het
Esrrb	T	A	12: 86,517,331 (GRCm39)		probably null	Het
Fabp1	C	A	6: 71,180,111 (GRCm39)	T94N	probably benign	Het
Fam120a	A	T	13: 49,045,482 (GRCm39)	C785S	probably damaging	Het
Fam243	T	C	16: 92,117,710 (GRCm39)	I193V	probably damaging	Het
Foxc1	A	G	13: 31,991,243 (GRCm39)	Y18C	probably damaging	Het
Fshr	T	C	17: 89,293,272 (GRCm39)	T469A	probably benign	Het
Gm14399	T	A	2: 174,972,204 (GRCm39)	H517L	unknown	Het
Gm39115	G	T	7: 141,689,297 (GRCm39)	Q159K	unknown	Het
Gm7347	T	A	5: 26,262,306 (GRCm39)	I72F	possibly damaging	Het
Hmcn1	A	G	1: 150,559,466 (GRCm39)	V2395A	possibly damaging	Het
Ighv5-17	T	G	12: 113,822,858 (GRCm39)	T88P	probably damaging	Het
Insm2	T	A	12: 55,647,329 (GRCm39)	Y358N	probably damaging	Het
Kazn	A	T	4: 141,844,486 (GRCm39)	L409Q		Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kcnv2	A	T	19: 27,311,084 (GRCm39)	T484S	probably damaging	Het
Kdm3b	T	C	18: 34,927,557 (GRCm39)	Y140H	probably benign	Het
Kifbp	A	C	10: 62,401,895 (GRCm39)	C261W	probably damaging	Het
Krt25	C	T	11: 99,212,098 (GRCm39)	A180T	probably benign	Het
Mmp1a	A	G	9: 7,467,294 (GRCm39)	E290G	probably damaging	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Nr3c1	T	C	18: 39,547,654 (GRCm39)	T755A	probably benign	Het
Nr3c1	A	T	18: 39,555,786 (GRCm39)	I517N	probably benign	Het
Nxpe2	A	G	9: 48,234,339 (GRCm39)		probably null	Het
Oaz1	C	A	10: 80,662,673 (GRCm39)	T27K	possibly damaging	Het
Or4p7	A	T	2: 88,222,050 (GRCm39)	H153L	probably damaging	Het
Or51f5	T	C	7: 102,424,634 (GRCm39)	I301T	probably damaging	Het
Or5t5	G	T	2: 86,617,034 (GRCm39)	C320F	probably benign	Het
Or6z3	T	A	7: 6,463,777 (GRCm39)	W90R	probably benign	Het
Or8k21	A	G	2: 86,145,369 (GRCm39)	M87T	probably benign	Het
Or8s5	A	G	15: 98,237,943 (GRCm39)	V309A	probably damaging	Het
Pafah2	A	T	4: 134,147,308 (GRCm39)	K319M	probably damaging	Het
Pask	A	T	1: 93,259,309 (GRCm39)	V236E	probably damaging	Het
Pcdh1	T	C	18: 38,322,966 (GRCm39)	T956A	probably damaging	Het
Pcsk2	A	T	2: 143,532,343 (GRCm39)	I164F	probably damaging	Het
Phf1	T	C	17: 27,154,289 (GRCm39)	Y169H	probably damaging	Het
Pkdrej	T	A	15: 85,705,301 (GRCm39)	I212F	probably benign	Het
Pnkp	T	A	7: 44,508,114 (GRCm39)	W146R	probably damaging	Het
Prkcb	A	T	7: 122,143,910 (GRCm39)	I325F	probably benign	Het
Ptpn21	C	T	12: 98,670,450 (GRCm39)	D239N	probably benign	Het
Ptprb	A	G	10: 116,164,070 (GRCm39)	T626A	probably damaging	Het
Pttg1	T	C	11: 43,311,916 (GRCm39)	N180D	probably benign	Het
Raly	G	A	2: 154,703,774 (GRCm39)	R115Q	probably damaging	Het
Rims2	A	T	15: 39,301,114 (GRCm39)	M474L	probably benign	Het
Sash1	A	T	10: 8,605,960 (GRCm39)	I810N	probably damaging	Het
Scnn1g	T	A	7: 121,337,304 (GRCm39)	L55*	probably null	Het
Sema6b	A	T	17: 56,432,573 (GRCm39)	D543E	possibly damaging	Het
Serpina11	C	T	12: 103,952,761 (GRCm39)	G5E	unknown	Het
Sesn3	A	T	9: 14,187,848 (GRCm39)	M1L	probably benign	Het
Sez6	T	A	11: 77,865,149 (GRCm39)	I632N	possibly damaging	Het
Sgo2b	A	T	8: 64,394,192 (GRCm39)	I49N	probably damaging	Het
Slc30a2	A	T	4: 134,071,524 (GRCm39)	I86F	possibly damaging	Het
Slc38a6	T	A	12: 73,333,786 (GRCm39)	W30R	probably benign	Het
Spata31g1	A	T	4: 42,972,379 (GRCm39)	T571S	probably benign	Het
Spata31g1	A	T	4: 42,973,252 (GRCm39)	I862F	possibly damaging	Het
Stk31	T	G	6: 49,415,393 (GRCm39)	V576G	probably benign	Het
Szt2	G	A	4: 118,233,075 (GRCm39)	T2297I	unknown	Het
Tmem208	T	C	8: 106,061,418 (GRCm39)	F148S	possibly damaging	Het
Tprg1l	A	G	4: 154,245,031 (GRCm39)	L19P	possibly damaging	Het
Tubg2	C	A	11: 101,050,897 (GRCm39)	N207K	probably damaging	Het
Ube2n	G	T	10: 95,377,612 (GRCm39)	K130N	probably benign	Het
Usp36	T	C	11: 118,164,355 (GRCm39)	Y384C	probably damaging	Het
Vcan	A	T	13: 89,840,852 (GRCm39)	L1564*	probably null	Het
Xkr6	A	T	14: 64,035,748 (GRCm39)	D283V	unknown	Het
Zfp654	T	C	16: 64,605,523 (GRCm39)	H352R	probably benign	Het
Zfp819	T	A	7: 43,266,506 (GRCm39)	C330S	probably damaging	Het
Zfp970	G	T	2: 177,167,086 (GRCm39)	C220F	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
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
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'- GCTTCTGAGGATATTCGAGCAAC -3'
(R):5'- GATGTTGTATTCAGCTCTGCTC -3'

Sequencing Primer
(F):5'- CTGAGGATATTCGAGCAACCTTTC -3'
(R):5'- CAGTGCTCCTTCTGTCATTAGGATG -3'

Posted On

2019-06-26