Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Pcdhb9'

206621

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb9

Ensembl Gene

ENSMUSG00000051242

Gene Name

protocadherin beta 9

Synonyms

PcdhbI, Pcdhb4C

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37400855-37403909 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37402818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 622 (T622A)

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: T622A

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: T622A

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

Meta Mutation Damage Score

0.2335

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	Het

Other mutations in Pcdhb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pcdhb9	APN	18	37403279	missense	possibly damaging	0.59
IGL01557:Pcdhb9	APN	18	37403047	missense	probably damaging	1.00
IGL01716:Pcdhb9	APN	18	37403175	missense	probably damaging	0.99
IGL01954:Pcdhb9	APN	18	37401741	missense	probably damaging	1.00
IGL02063:Pcdhb9	APN	18	37401757	missense	probably benign	0.21
IGL03057:Pcdhb9	APN	18	37401277	missense	probably benign	0.00
R0140:Pcdhb9	UTSW	18	37402961	missense	possibly damaging	0.89
R0180:Pcdhb9	UTSW	18	37402254	missense	probably damaging	1.00
R0349:Pcdhb9	UTSW	18	37402579	missense	probably damaging	0.99
R0616:Pcdhb9	UTSW	18	37401975	nonsense	probably null
R0669:Pcdhb9	UTSW	18	37402255	missense	probably damaging	1.00
R1256:Pcdhb9	UTSW	18	37403116	missense	possibly damaging	0.94
R1642:Pcdhb9	UTSW	18	37400934	intron	probably benign
R1678:Pcdhb9	UTSW	18	37401629	missense	probably damaging	1.00
R1711:Pcdhb9	UTSW	18	37403327	nonsense	probably null
R1762:Pcdhb9	UTSW	18	37403083	missense	probably benign	0.00
R1868:Pcdhb9	UTSW	18	37402084	missense	probably damaging	1.00
R1959:Pcdhb9	UTSW	18	37403316	missense	probably damaging	1.00
R2446:Pcdhb9	UTSW	18	37403287	missense	probably damaging	0.99
R2889:Pcdhb9	UTSW	18	37403223	missense	probably benign	0.06
R2890:Pcdhb9	UTSW	18	37403326	missense	probably benign	0.23
R3196:Pcdhb9	UTSW	18	37401610	missense	probably benign	0.02
R3725:Pcdhb9	UTSW	18	37401601	missense	possibly damaging	0.95
R3726:Pcdhb9	UTSW	18	37401601	missense	possibly damaging	0.95
R4179:Pcdhb9	UTSW	18	37401115	missense	probably benign	0.17
R4326:Pcdhb9	UTSW	18	37401822	missense	probably benign	0.04
R4326:Pcdhb9	UTSW	18	37401823	missense	probably benign	0.15
R4327:Pcdhb9	UTSW	18	37401822	missense	probably benign	0.04
R4327:Pcdhb9	UTSW	18	37401823	missense	probably benign	0.15
R4329:Pcdhb9	UTSW	18	37401822	missense	probably benign	0.04
R4329:Pcdhb9	UTSW	18	37401823	missense	probably benign	0.15
R4626:Pcdhb9	UTSW	18	37402249	missense	probably benign	0.01
R4738:Pcdhb9	UTSW	18	37403415	missense	probably benign	0.33
R4888:Pcdhb9	UTSW	18	37403233	missense	probably benign	0.22
R5140:Pcdhb9	UTSW	18	37401133	missense	probably benign	0.00
R5186:Pcdhb9	UTSW	18	37401232	missense	probably damaging	1.00
R5502:Pcdhb9	UTSW	18	37401603	missense	possibly damaging	0.95
R5586:Pcdhb9	UTSW	18	37401114	missense	probably benign
R5601:Pcdhb9	UTSW	18	37402206	missense	probably damaging	1.00
R5624:Pcdhb9	UTSW	18	37401406	missense	probably benign
R5827:Pcdhb9	UTSW	18	37401958	missense	possibly damaging	0.72
R5829:Pcdhb9	UTSW	18	37401889	missense	probably damaging	0.97
R5837:Pcdhb9	UTSW	18	37402798	missense	probably damaging	1.00
R6147:Pcdhb9	UTSW	18	37402441	missense	possibly damaging	0.95
R6228:Pcdhb9	UTSW	18	37402062	missense	probably benign	0.00
R6245:Pcdhb9	UTSW	18	37403154	missense	probably damaging	1.00
R6304:Pcdhb9	UTSW	18	37401367	missense	probably damaging	0.99
R6542:Pcdhb9	UTSW	18	37401589	missense	probably damaging	0.99
R6904:Pcdhb9	UTSW	18	37401917	missense	probably benign	0.01
R7058:Pcdhb9	UTSW	18	37403281	missense	probably benign	0.35
R7159:Pcdhb9	UTSW	18	37401492	missense	possibly damaging	0.89
R7258:Pcdhb9	UTSW	18	37402114	missense	probably damaging	1.00
R7800:Pcdhb9	UTSW	18	37401549	missense	probably benign	0.01
R8027:Pcdhb9	UTSW	18	37403016	missense	possibly damaging	0.81
R8141:Pcdhb9	UTSW	18	37402308	missense	probably damaging	1.00
R8157:Pcdhb9	UTSW	18	37403155	missense	probably damaging	1.00
R8729:Pcdhb9	UTSW	18	37402586	missense	possibly damaging	0.88
R8748:Pcdhb9	UTSW	18	37402848	missense	probably damaging	1.00
R8833:Pcdhb9	UTSW	18	37401415	missense	probably benign
R9083:Pcdhb9	UTSW	18	37402717	missense	probably damaging	1.00
R9562:Pcdhb9	UTSW	18	37401612	missense	probably benign
R9779:Pcdhb9	UTSW	18	37402200	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACAATGGGCAGCTGTTTG -3'
(R):5'- TCCTTGACCACCAGCAGTAG -3'

Sequencing Primer
(F):5'- GCAGCTGTTTGCACTCAG -3'
(R):5'- ACCACCAGCAGTAGCCTGTG -3'

Posted On

2014-06-23