Mutagenetix > Incidental Mutation

Incidental Mutation 'R4738:Pcdhb9'

359470

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb9

Ensembl Gene

ENSMUSG00000051242

Gene Name

protocadherin beta 9

Synonyms

Pcdhb4C, PcdhbI

MMRRC Submission

041964-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37533908-37536962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37536468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 821 (C821R)

Ref Sequence

ENSEMBL: ENSMUSP00000058801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057228] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

E9Q5G2

Predicted Effect

probably benign
Transcript: ENSMUST00000057228
AA Change: C821R

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: C821R

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	65	147	2.3e-33	PFAM
CA	190	275	1.28e-17	SMART
CA	299	380	7.6e-25	SMART
CA	403	484	5.81e-21	SMART
CA	508	594	9.8e-28	SMART
CA	624	705	1.86e-10	SMART
Pfam:Cadherin_C_2	722	805	2.3e-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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,121,849 (GRCm39)	I176T	probably benign	Het
Abtb3	C	T	10: 85,463,112 (GRCm39)	Q626*	probably null	Het
Angpt2	C	T	8: 18,791,075 (GRCm39)	D74N	probably benign	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Areg	T	C	5: 91,294,583 (GRCm39)	I247T	possibly damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,556,062 (GRCm39)	S246T	probably benign	Het
Atp8b1	T	C	18: 64,678,251 (GRCm39)	R882G	probably benign	Het
Atp9a	A	G	2: 168,510,101 (GRCm39)	V444A	probably benign	Het
Babam2	T	A	5: 32,058,486 (GRCm39)	Y211N	probably damaging	Het
Ccdc127	T	G	13: 74,505,187 (GRCm39)		probably benign	Het
Cep192	A	T	18: 68,017,901 (GRCm39)	K2500*	probably null	Het
Cnot4	T	C	6: 35,028,311 (GRCm39)	N435S	probably benign	Het
Col12a1	T	C	9: 79,606,564 (GRCm39)	I620V	probably damaging	Het
Cyth4	G	A	15: 78,490,074 (GRCm39)	M62I	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dchs1	C	T	7: 105,407,880 (GRCm39)	R1984Q	probably damaging	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Disp2	A	G	2: 118,620,807 (GRCm39)	Y513C	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,415,833 (GRCm39)	M384K	probably benign	Het
Emc1	G	T	4: 139,089,513 (GRCm39)	G227V	possibly damaging	Het
Eri2	A	G	7: 119,386,955 (GRCm39)		probably null	Het
Frzb	A	G	2: 80,254,941 (GRCm39)		probably null	Het
Ganc	T	A	2: 120,283,075 (GRCm39)	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,031,729 (GRCm39)		probably benign	Het
Gm3086	A	T	12: 70,016,155 (GRCm39)		probably benign	Het
Gsdmc2	A	T	15: 63,698,650 (GRCm39)	Y315*	probably null	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Hhip	C	T	8: 80,719,199 (GRCm39)	D443N	probably damaging	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Kank2	T	C	9: 21,685,915 (GRCm39)	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,329,907 (GRCm39)	R345S	probably benign	Het
Larp7	A	G	3: 127,339,694 (GRCm39)		probably null	Het
Lgals12	A	G	19: 7,581,464 (GRCm39)	V81A	probably benign	Het
Lhx9	A	G	1: 138,760,486 (GRCm39)	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,264,456 (GRCm39)	H213L	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Neb	A	C	2: 52,077,494 (GRCm39)	S1846A	probably damaging	Het
Nr3c2	T	C	8: 77,635,936 (GRCm39)	S346P	possibly damaging	Het
Obi1	C	T	14: 104,747,819 (GRCm39)	D43N	probably damaging	Het
Or10h5	A	G	17: 33,434,784 (GRCm39)	F178S	probably benign	Het
Or1e1c	G	T	11: 73,266,176 (GRCm39)	L200F	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or5h19	T	C	16: 58,856,558 (GRCm39)	I181V	probably benign	Het
Or5p63	A	T	7: 107,811,201 (GRCm39)	N178K	probably damaging	Het
Osbpl10	A	G	9: 115,045,642 (GRCm39)	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,887,234 (GRCm39)	V210A	probably damaging	Het
Pam	A	T	1: 97,850,857 (GRCm39)	V167D	probably damaging	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Pbx4	C	T	8: 70,317,619 (GRCm39)	T201M	probably damaging	Het
Plekhg3	T	C	12: 76,623,688 (GRCm39)	I976T	probably damaging	Het
Pold1	G	A	7: 44,190,753 (GRCm39)	R304C	probably damaging	Het
Prss38	T	C	11: 59,263,771 (GRCm39)	T314A	probably benign	Het
Psph	T	C	5: 129,846,450 (GRCm39)		probably null	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,862,173 (GRCm39)	E648G	probably damaging	Het
Ralgds	A	G	2: 28,435,428 (GRCm39)	E465G	probably damaging	Het
Rfng	T	C	11: 120,674,790 (GRCm39)	T67A	probably damaging	Het
Rps6kl1	G	T	12: 85,187,161 (GRCm39)	F181L	probably benign	Het
Spata46	G	A	1: 170,139,455 (GRCm39)	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Sspo	C	T	6: 48,455,330 (GRCm39)	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,704,396 (GRCm39)	I231T	probably damaging	Het
Tff3	G	A	17: 31,346,483 (GRCm39)	P30S	probably benign	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,147,708 (GRCm39)	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,223,569 (GRCm39)	T14A	probably damaging	Het
Tspan17	T	A	13: 54,942,877 (GRCm39)	C116*	probably null	Het
Ttn	T	C	2: 76,710,890 (GRCm39)		probably benign	Het
Tyr	T	C	7: 87,141,855 (GRCm39)	Y158C	probably null	Het
U2af1l4	G	T	7: 30,262,773 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,282,939 (GRCm39)	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,129,902 (GRCm39)	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,917,183 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,977,111 (GRCm39)	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,465,229 (GRCm39)	F345I	probably benign	Het
Zswim2	T	A	2: 83,745,739 (GRCm39)	R566S	probably benign	Het

Other mutations in Pcdhb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pcdhb9	APN	18	37,536,332 (GRCm39)	missense	possibly damaging	0.59
IGL01557:Pcdhb9	APN	18	37,536,100 (GRCm39)	missense	probably damaging	1.00
IGL01716:Pcdhb9	APN	18	37,536,228 (GRCm39)	missense	probably damaging	0.99
IGL01954:Pcdhb9	APN	18	37,534,794 (GRCm39)	missense	probably damaging	1.00
IGL02063:Pcdhb9	APN	18	37,534,810 (GRCm39)	missense	probably benign	0.21
IGL03057:Pcdhb9	APN	18	37,534,330 (GRCm39)	missense	probably benign	0.00
R0140:Pcdhb9	UTSW	18	37,536,014 (GRCm39)	missense	possibly damaging	0.89
R0180:Pcdhb9	UTSW	18	37,535,307 (GRCm39)	missense	probably damaging	1.00
R0349:Pcdhb9	UTSW	18	37,535,632 (GRCm39)	missense	probably damaging	0.99
R0616:Pcdhb9	UTSW	18	37,535,028 (GRCm39)	nonsense	probably null
R0669:Pcdhb9	UTSW	18	37,535,308 (GRCm39)	missense	probably damaging	1.00
R1256:Pcdhb9	UTSW	18	37,536,169 (GRCm39)	missense	possibly damaging	0.94
R1642:Pcdhb9	UTSW	18	37,533,987 (GRCm39)	intron	probably benign
R1678:Pcdhb9	UTSW	18	37,534,682 (GRCm39)	missense	probably damaging	1.00
R1711:Pcdhb9	UTSW	18	37,536,380 (GRCm39)	nonsense	probably null
R1762:Pcdhb9	UTSW	18	37,536,136 (GRCm39)	missense	probably benign	0.00
R1823:Pcdhb9	UTSW	18	37,535,871 (GRCm39)	missense	probably benign	0.14
R1868:Pcdhb9	UTSW	18	37,535,137 (GRCm39)	missense	probably damaging	1.00
R1959:Pcdhb9	UTSW	18	37,536,369 (GRCm39)	missense	probably damaging	1.00
R2446:Pcdhb9	UTSW	18	37,536,340 (GRCm39)	missense	probably damaging	0.99
R2889:Pcdhb9	UTSW	18	37,536,276 (GRCm39)	missense	probably benign	0.06
R2890:Pcdhb9	UTSW	18	37,536,379 (GRCm39)	missense	probably benign	0.23
R3196:Pcdhb9	UTSW	18	37,534,663 (GRCm39)	missense	probably benign	0.02
R3725:Pcdhb9	UTSW	18	37,534,654 (GRCm39)	missense	possibly damaging	0.95
R3726:Pcdhb9	UTSW	18	37,534,654 (GRCm39)	missense	possibly damaging	0.95
R4179:Pcdhb9	UTSW	18	37,534,168 (GRCm39)	missense	probably benign	0.17
R4326:Pcdhb9	UTSW	18	37,534,876 (GRCm39)	missense	probably benign	0.15
R4326:Pcdhb9	UTSW	18	37,534,875 (GRCm39)	missense	probably benign	0.04
R4327:Pcdhb9	UTSW	18	37,534,876 (GRCm39)	missense	probably benign	0.15
R4327:Pcdhb9	UTSW	18	37,534,875 (GRCm39)	missense	probably benign	0.04
R4329:Pcdhb9	UTSW	18	37,534,876 (GRCm39)	missense	probably benign	0.15
R4329:Pcdhb9	UTSW	18	37,534,875 (GRCm39)	missense	probably benign	0.04
R4626:Pcdhb9	UTSW	18	37,535,302 (GRCm39)	missense	probably benign	0.01
R4888:Pcdhb9	UTSW	18	37,536,286 (GRCm39)	missense	probably benign	0.22
R5140:Pcdhb9	UTSW	18	37,534,186 (GRCm39)	missense	probably benign	0.00
R5186:Pcdhb9	UTSW	18	37,534,285 (GRCm39)	missense	probably damaging	1.00
R5502:Pcdhb9	UTSW	18	37,534,656 (GRCm39)	missense	possibly damaging	0.95
R5586:Pcdhb9	UTSW	18	37,534,167 (GRCm39)	missense	probably benign
R5601:Pcdhb9	UTSW	18	37,535,259 (GRCm39)	missense	probably damaging	1.00
R5624:Pcdhb9	UTSW	18	37,534,459 (GRCm39)	missense	probably benign
R5827:Pcdhb9	UTSW	18	37,535,011 (GRCm39)	missense	possibly damaging	0.72
R5829:Pcdhb9	UTSW	18	37,534,942 (GRCm39)	missense	probably damaging	0.97
R5837:Pcdhb9	UTSW	18	37,535,851 (GRCm39)	missense	probably damaging	1.00
R6147:Pcdhb9	UTSW	18	37,535,494 (GRCm39)	missense	possibly damaging	0.95
R6228:Pcdhb9	UTSW	18	37,535,115 (GRCm39)	missense	probably benign	0.00
R6245:Pcdhb9	UTSW	18	37,536,207 (GRCm39)	missense	probably damaging	1.00
R6304:Pcdhb9	UTSW	18	37,534,420 (GRCm39)	missense	probably damaging	0.99
R6542:Pcdhb9	UTSW	18	37,534,642 (GRCm39)	missense	probably damaging	0.99
R6904:Pcdhb9	UTSW	18	37,534,970 (GRCm39)	missense	probably benign	0.01
R7058:Pcdhb9	UTSW	18	37,536,334 (GRCm39)	missense	probably benign	0.35
R7159:Pcdhb9	UTSW	18	37,534,545 (GRCm39)	missense	possibly damaging	0.89
R7258:Pcdhb9	UTSW	18	37,535,167 (GRCm39)	missense	probably damaging	1.00
R7800:Pcdhb9	UTSW	18	37,534,602 (GRCm39)	missense	probably benign	0.01
R8027:Pcdhb9	UTSW	18	37,536,069 (GRCm39)	missense	possibly damaging	0.81
R8141:Pcdhb9	UTSW	18	37,535,361 (GRCm39)	missense	probably damaging	1.00
R8157:Pcdhb9	UTSW	18	37,536,208 (GRCm39)	missense	probably damaging	1.00
R8729:Pcdhb9	UTSW	18	37,535,639 (GRCm39)	missense	possibly damaging	0.88
R8748:Pcdhb9	UTSW	18	37,535,901 (GRCm39)	missense	probably damaging	1.00
R8833:Pcdhb9	UTSW	18	37,534,468 (GRCm39)	missense	probably benign
R9083:Pcdhb9	UTSW	18	37,535,770 (GRCm39)	missense	probably damaging	1.00
R9562:Pcdhb9	UTSW	18	37,534,665 (GRCm39)	missense	probably benign
R9779:Pcdhb9	UTSW	18	37,535,253 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTGAACACTTTCCTGGC -3'
(R):5'- TACTTGAGCTACTTGTAGTCGTGAG -3'

Sequencing Primer
(F):5'- CCACCTGGTCGATGTCAGTG -3'
(R):5'- TTCACCAAAGACACTGAACATGTAG -3'

Posted On

2015-11-11