Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Pcdhb4'

580585

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: 0.054) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37309275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 546 (V546A)

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

probably damaging
Transcript: ENSMUST00000056712
AA Change: V546A

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

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V546A

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

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,983,221		probably null	Het
2310034C09Rik	A	G	16: 88,759,354	Y152C	probably benign	Het
4921530L21Rik	A	T	14: 95,882,591	K261N	probably benign	Het
5830411N06Rik	A	T	7: 140,261,607	T275S	probably benign	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Akap1	A	G	11: 88,845,528	S103P	probably damaging	Het
Ampd1	T	A	3: 103,074,119		probably null	Het
Apoa1	T	A	9: 46,229,802		probably null	Het
Asb16	A	G	11: 102,272,655	D157G	possibly damaging	Het
Bank1	T	C	3: 136,055,800	N748D	possibly damaging	Het
BC034090	C	A	1: 155,226,381	G46W	probably damaging	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Ccdc73	T	A	2: 104,951,869	V190E	probably damaging	Het
Cyb561a3	A	G	19: 10,582,332	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 27,158,243	D427V	probably damaging	Het
Cyp4f14	T	C	17: 32,909,157	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,257,102	T510A	probably benign	Het
Dennd6a	G	T	14: 26,579,710	E26*	probably null	Het
Dusp10	T	C	1: 184,069,221	I395T	probably damaging	Het
Dzip3	T	A	16: 48,951,989	H439L	probably damaging	Het
Heatr5b	T	A	17: 78,768,533	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,711,796	F278L	probably benign	Het
Hspg2	T	A	4: 137,515,664	M702K	probably damaging	Het
Hydin	T	C	8: 110,583,914	F4081L	probably damaging	Het
Ido1	T	G	8: 24,586,916	T209P	probably benign	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ipo8	T	C	6: 148,789,805	Y689C	probably benign	Het
Macf1	C	T	4: 123,456,643	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,941,554	T1014A	probably benign	Het
Nek5	A	G	8: 22,108,040	F200L	probably damaging	Het
Nipal1	A	G	5: 72,667,641	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159	N80I	probably damaging	Het
Nmur1	G	A	1: 86,386,378	P389S	probably benign	Het
Olfr1037	T	C	2: 86,084,907	Y290C	probably damaging	Het
Olfr59	T	C	11: 74,288,685	L13P	possibly damaging	Het
Olfr975	G	T	9: 39,950,053	C239*	probably null	Het
Patl2	A	C	2: 122,127,525	V84G	probably benign	Het
Phf20l1	G	T	15: 66,597,750	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,339,729	N35S	probably benign	Het
Pigw	A	T	11: 84,877,963	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,200,701	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,486,796	F436L	probably damaging	Het
Plch2	T	C	4: 154,984,096	T1358A	probably benign	Het
Poll	C	T	19: 45,553,057	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553		probably null	Het
Ppp1r35	G	A	5: 137,780,017	W258*	probably null	Het
Ptpdc1	A	T	13: 48,586,666	F430I	probably benign	Het
Ptprh	T	C	7: 4,552,743	E739G	probably damaging	Het
Ramp2	T	C	11: 101,247,939	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,610,921		probably null	Het
Rbm5	A	G	9: 107,750,394		probably null	Het
Rnf39	A	T	17: 36,943,349	S88C	probably benign	Het
Rpl12	A	G	2: 32,963,824	I155V	probably benign	Het
Senp5	C	T	16: 31,976,029	E596K	unknown	Het
Serpinb9d	A	G	13: 33,195,933	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,416,316	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,226,484		probably null	Het
Spatc1	A	T	15: 76,268,368	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,368,229		probably benign	Het
Traf3ip1	A	G	1: 91,511,388	D342G	probably benign	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2j2	T	C	4: 155,957,331	V249A	probably damaging	Het
Utrn	A	C	10: 12,439,791	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,360,877	M168L	probably benign	Het
Vmn1r77	T	A	7: 12,041,767	S157T	probably benign	Het
Zfp977	A	G	7: 42,580,460	S214P	probably benign	Het
Zscan10	T	C	17: 23,610,005	L507P	possibly 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
R7271:Pcdhb4	UTSW	18	37308169	missense	possibly damaging	0.89
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'- AGTGCCACAGACTCAGACTC -3'
(R):5'- CCTTGAGCAGCTGGAATGAC -3'

Sequencing Primer
(F):5'- ACTCAGACTCGGGCTCCAATG -3'
(R):5'- ATGACAGCCAGGCATTCTG -3'

Posted On

2019-10-07