Mutagenetix > Incidental Mutation

Incidental Mutation 'R7271:Pcdhb4'

565325

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37308169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 177 (H177Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056712] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056712
AA Change: H177Q

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: H177Q

Domain	Start	End	E-Value	Type
CA	54	131	1.66e0	SMART
CA	155	240	1.07e-19	SMART
CA	264	344	6.03e-28	SMART
CA	367	448	2.57e-22	SMART
CA	472	558	3.36e-26	SMART
CA	588	669	3.48e-10	SMART
Pfam:Cadherin_C_2	685	768	1e-25	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: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	A	2: 118,760,683		probably null	Het
Afg1l	C	T	10: 42,415,548		probably null	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
Alpk3	A	G	7: 81,078,454	E444G	possibly damaging	Het
Amer2	T	A	14: 60,379,674	D439E	possibly damaging	Het
Ano6	A	G	15: 95,913,900	Y222C	probably damaging	Het
Atp4a	A	C	7: 30,722,519	K827Q	probably benign	Het
Atp9a	G	A	2: 168,734,127			Het
Casp7	T	A	19: 56,436,361	C171S	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdkl1	A	G	12: 69,748,811	L315S	probably benign	Het
Crybg1	G	T	10: 43,997,623	S1163*	probably null	Het
Csmd1	A	T	8: 17,027,279	W121R	probably damaging	Het
Cyyr1	A	T	16: 85,465,605	M88K	possibly damaging	Het
Dlc1	T	C	8: 36,582,800	Q587R	probably damaging	Het
Dock2	T	C	11: 34,273,750	E1128G	possibly damaging	Het
Dynap	T	A	18: 70,241,249	T69S	possibly damaging	Het
Esr1	T	C	10: 4,783,874	C225R	probably damaging	Het
Fbxo31	C	T	8: 121,578,764		probably benign	Het
Fndc11	G	A	2: 181,222,100	V233I	possibly damaging	Het
Fto	T	C	8: 91,485,190	F381S	probably damaging	Het
Gm10471	G	A	5: 26,087,995	T67I	probably benign	Het
Gtf2ird1	A	G	5: 134,404,904	L223P	probably benign	Het
Ifi214	A	T	1: 173,529,476	H20Q	probably damaging	Het
Impa2	T	A	18: 67,306,736	I101N	probably damaging	Het
Kidins220	A	T	12: 25,011,571	T854S	probably benign	Het
Lamb1	T	A	12: 31,287,424	C385S	probably damaging	Het
Lrrc8c	A	G	5: 105,607,987	S543G	probably benign	Het
Maats1	A	G	16: 38,328,346	I240T	probably damaging	Het
Manba	A	T	3: 135,542,376	Y342F	probably damaging	Het
Map3k1	T	C	13: 111,756,697	D758G	probably benign	Het
Mtor	G	T	4: 148,546,485	A2300S	possibly damaging	Het
Musk	T	A	4: 58,373,409	M793K	probably damaging	Het
Nup133	A	C	8: 123,922,414	I563S	probably benign	Het
Olfr1117-ps1	T	A	2: 87,284,381	N30K	probably benign	Het
Olfr1283	A	G	2: 111,369,348	T239A	probably damaging	Het
Olfr479	G	A	7: 108,055,216	R78Q	probably damaging	Het
Olfr935	A	T	9: 38,994,657	Y259*	probably null	Het
Pcdh12	C	A	18: 38,283,047	V342F	probably damaging	Het
Pcnx2	G	A	8: 125,886,951	A587V	probably benign	Het
Phkb	C	T	8: 86,043,789	P896S	probably damaging	Het
Prss36	A	G	7: 127,944,705	S165P	probably benign	Het
Prss43	A	G	9: 110,828,603	D190G	probably damaging	Het
Psmd14	T	C	2: 61,761,012	V53A	probably damaging	Het
Sel1l3	T	G	5: 53,116,362	H1054P	probably damaging	Het
Selenoh	T	C	2: 84,670,287	R70G	probably damaging	Het
Serpinb9d	A	G	13: 33,194,634	Q21R	probably benign	Het
Slc29a1	T	C	17: 45,588,362	E262G	probably benign	Het
Slc7a14	A	G	3: 31,224,235	L407P	probably damaging	Het
Smyd4	T	C	11: 75,390,499	V266A	possibly damaging	Het
Spata31d1a	T	A	13: 59,702,099	R738S	probably benign	Het
Srcin1	C	T	11: 97,551,889	G38S	probably damaging	Het
Stab2	A	T	10: 87,003,108		probably null	Het
Syde2	A	G	3: 146,020,276	N1308D	possibly damaging	Het
Trip11	A	T	12: 101,884,352	M1151K	probably damaging	Het
Ttll4	A	T	1: 74,688,661	I861F	possibly damaging	Het
Zfp319	G	A	8: 95,331,843		probably benign	Het
Zfp518b	T	C	5: 38,674,564	N33D	probably benign	Het
Zfp874a	T	A	13: 67,443,296	I90F	probably benign	Het
Zmiz2	G	T	11: 6,399,593	V412L	probably damaging	Het

Other mutations in Pcdhb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Pcdhb4	APN	18	37309916	missense	possibly damaging	0.68
IGL01319:Pcdhb4	APN	18	37308513	missense	probably benign
IGL01325:Pcdhb4	APN	18	37309623	missense	probably damaging	1.00
IGL01608:Pcdhb4	APN	18	37308750	missense	probably damaging	1.00
IGL01808:Pcdhb4	APN	18	37309014	missense	probably damaging	1.00
IGL01962:Pcdhb4	APN	18	37309004	missense	possibly damaging	0.90
IGL02280:Pcdhb4	APN	18	37307682	missense	probably benign	0.00
IGL02622:Pcdhb4	APN	18	37309668	missense	probably benign	0.00
IGL03025:Pcdhb4	APN	18	37309977	missense	possibly damaging	0.62
IGL03137:Pcdhb4	APN	18	37308516	missense	probably damaging	0.98
P0031:Pcdhb4	UTSW	18	37308885	missense	probably damaging	1.00
R0385:Pcdhb4	UTSW	18	37309215	missense	probably damaging	1.00
R0611:Pcdhb4	UTSW	18	37308210	missense	probably damaging	1.00
R0671:Pcdhb4	UTSW	18	37307742	missense	probably benign	0.01
R0738:Pcdhb4	UTSW	18	37308711	missense	probably damaging	1.00
R0853:Pcdhb4	UTSW	18	37309885	nonsense	probably null
R0893:Pcdhb4	UTSW	18	37309370	splice site	probably null
R1932:Pcdhb4	UTSW	18	37309541	missense	probably benign	0.33
R1945:Pcdhb4	UTSW	18	37308868	missense	probably damaging	1.00
R2194:Pcdhb4	UTSW	18	37308735	missense	probably damaging	1.00
R2273:Pcdhb4	UTSW	18	37308926	missense	probably damaging	1.00
R3807:Pcdhb4	UTSW	18	37309314	missense	probably damaging	0.98
R3815:Pcdhb4	UTSW	18	37308012	missense	probably damaging	1.00
R3816:Pcdhb4	UTSW	18	37308012	missense	probably damaging	1.00
R3974:Pcdhb4	UTSW	18	37308848	missense	possibly damaging	0.55
R4558:Pcdhb4	UTSW	18	37309964	missense	probably benign
R4606:Pcdhb4	UTSW	18	37308652	missense	probably damaging	1.00
R4615:Pcdhb4	UTSW	18	37308500	missense	probably benign	0.02
R4840:Pcdhb4	UTSW	18	37308399	missense	possibly damaging	0.60
R5240:Pcdhb4	UTSW	18	37309926	missense	possibly damaging	0.78
R5272:Pcdhb4	UTSW	18	37307766	missense	probably benign	0.04
R5586:Pcdhb4	UTSW	18	37308981	missense	probably damaging	1.00
R5683:Pcdhb4	UTSW	18	37308989	missense	probably benign	0.45
R5917:Pcdhb4	UTSW	18	37309566	missense	probably damaging	1.00
R6110:Pcdhb4	UTSW	18	37308429	missense	possibly damaging	0.80
R6383:Pcdhb4	UTSW	18	37308021	missense	probably damaging	1.00
R6877:Pcdhb4	UTSW	18	37309572	missense	probably damaging	1.00
R7036:Pcdhb4	UTSW	18	37308782	missense	possibly damaging	0.95
R7204:Pcdhb4	UTSW	18	37309239	missense	probably damaging	1.00
R7436:Pcdhb4	UTSW	18	37309275	missense	probably damaging	1.00
R7444:Pcdhb4	UTSW	18	37309452	missense	probably damaging	1.00
R7614:Pcdhb4	UTSW	18	37309549	missense	probably benign	0.40
R7650:Pcdhb4	UTSW	18	37309614	missense	probably damaging	1.00
R7664:Pcdhb4	UTSW	18	37309240	missense	probably damaging	1.00
R8080:Pcdhb4	UTSW	18	37309296	missense	probably benign	0.42
R8087:Pcdhb4	UTSW	18	37308664	missense	probably damaging	1.00
R8115:Pcdhb4	UTSW	18	37309400	missense	probably damaging	0.99
R8697:Pcdhb4	UTSW	18	37308779	missense	probably benign	0.15
R8815:Pcdhb4	UTSW	18	37309002	missense	probably damaging	1.00
R9008:Pcdhb4	UTSW	18	37307661	missense	probably benign
R9225:Pcdhb4	UTSW	18	37308642	missense	possibly damaging	0.68
R9278:Pcdhb4	UTSW	18	37308872	missense	possibly damaging	0.61
R9299:Pcdhb4	UTSW	18	37309211	missense	probably benign	0.02
R9390:Pcdhb4	UTSW	18	37309728	missense	possibly damaging	0.80
R9582:Pcdhb4	UTSW	18	37308364	missense	probably damaging	1.00
R9686:Pcdhb4	UTSW	18	37309890	missense	probably damaging	0.98
R9721:Pcdhb4	UTSW	18	37309852	missense	possibly damaging	0.70
Z1177:Pcdhb4	UTSW	18	37309913	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACCCTGTGCAGTTCTTTCAAAC -3'
(R):5'- GATTGTACAAACTGGGGAGCATTG -3'

Sequencing Primer
(F):5'- TGCTCCTAACAATCCCTG -3'
(R):5'- TACAAACTGGGGAGCATTGTCATTG -3'

Posted On

2019-06-26