Mutagenetix > Incidental Mutation

Incidental Mutation 'R9008:Pcdhb4'

685470

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 #

R9008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37307661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 8 (M8R)

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 benign
Transcript: ENSMUST00000056712
AA Change: M8R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: M8R

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	T	G	15: 98,588,612	S88A	possibly damaging	Het
4930504O13Rik	T	A	11: 58,447,383	E61V	probably benign	Het
Abcc4	A	T	14: 118,611,750	S536R	probably damaging	Het
Acacb	G	A	5: 114,248,754		silent	Het
Acsm1	T	C	7: 119,659,102	Y473H	probably benign	Het
Adam30	T	A	3: 98,162,718	C622*	probably null	Het
Adprhl2	C	T	4: 126,316,839	V283M	probably damaging	Het
AI606181	G	T	19: 41,593,593	R67S	unknown	Het
Btbd3	A	G	2: 138,283,533	I212M	probably benign	Het
C1s1	C	T	6: 124,532,540		probably null	Het
C7	T	A	15: 5,010,927	T539S		Het
Cd5l	A	C	3: 87,368,665	D314A	probably damaging	Het
Celsr3	T	A	9: 108,828,952	V878E	possibly damaging	Het
Cfap74	T	C	4: 155,418,664	S38P		Het
Chst2	C	T	9: 95,406,294		probably benign	Het
Deaf1	T	C	7: 141,324,165	T103A	probably damaging	Het
Deup1	T	A	9: 15,599,844	D213V	probably damaging	Het
Dhrs1	A	G	14: 55,741,181		probably null	Het
Dnah7a	A	G	1: 53,662,342	V218A	possibly damaging	Het
Dock7	G	A	4: 98,945,211	Q1950*	probably null	Het
Ehf	G	A	2: 103,266,828	R283W		Het
Elovl3	A	T	19: 46,134,648	N221I	possibly damaging	Het
Gm11938	A	T	11: 99,603,140	V43E	probably damaging	Het
Gm12394	C	T	4: 42,792,546	G529S	probably benign	Het
Hmcn1	T	C	1: 150,755,044		probably benign	Het
Hnf4g	A	G	3: 3,643,036	N115S	probably benign	Het
Hnrnpr	A	T	4: 136,329,426	N246Y	probably damaging	Het
Itpka	A	G	2: 119,749,413	E211G	probably damaging	Het
Krt78	TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	15: 101,946,776		probably benign	Het
Lcorl	A	T	5: 45,774,174		probably benign	Het
Mgat5	T	C	1: 127,479,571	I658T	probably damaging	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Mov10	A	G	3: 104,800,016	Y606H	probably benign	Het
Naa38	T	G	11: 69,396,322	V76G	probably damaging	Het
Nelfe	C	A	17: 34,854,358	P290T	possibly damaging	Het
Nfil3	A	T	13: 52,967,573	Y432N	probably damaging	Het
Nipbl	T	C	15: 8,327,124	K1593E	probably damaging	Het
Nlrc3	G	C	16: 3,958,943	L56V	possibly damaging	Het
Nlrp1a	A	T	11: 71,123,909	F172I	possibly damaging	Het
Ntn4	T	A	10: 93,733,604		probably benign	Het
Nudt2	G	A	4: 41,480,288	R57Q	probably damaging	Het
Obsl1	A	C	1: 75,505,383	L281W	probably benign	Het
Olfm4	A	T	14: 80,018,167	N250I	unknown	Het
Olfr1375	G	A	11: 51,048,111	M1I	probably null	Het
Olfr165	T	A	16: 19,407,423	I198F	probably benign	Het
Olfr432	T	A	1: 174,050,847	V158E	probably damaging	Het
Olfr456	T	C	6: 42,486,969	S75G	probably damaging	Het
Olfr469	A	G	7: 107,823,421	I16T	possibly damaging	Het
Pappa	A	T	4: 65,156,189	T327S	probably damaging	Het
Phf21b	T	A	15: 84,787,362	I444F	probably damaging	Het
Pkd1l2	A	C	8: 117,042,298	V1205G	probably benign	Het
Plec	T	C	15: 76,176,032	Y3235C	probably damaging	Het
Pnmt	C	T	11: 98,388,006	T266I	possibly damaging	Het
Ppfia2	T	A	10: 106,819,359	D262E	probably benign	Het
Rabggta	A	T	14: 55,718,456	L448Q	probably damaging	Het
Rap1gds1	C	T	3: 138,955,416	R449H	probably benign	Het
Rictor	T	A	15: 6,772,129		probably benign	Het
Rttn	T	C	18: 89,009,432	F557S	probably damaging	Het
Ryr3	A	G	2: 112,635,403	C4809R	probably damaging	Het
Sacs	A	C	14: 61,204,543	D1346A	probably benign	Het
Slain1	T	A	14: 103,685,755	S261T	probably damaging	Het
Slc22a4	C	T	11: 53,990,838	W351*	probably null	Het
Smpd3	C	T	8: 106,257,426	G554S	probably benign	Het
Spag17	C	T	3: 100,027,626	S716F	possibly damaging	Het
Spg11	C	T	2: 122,069,932	M1546I	probably benign	Het
Stac3	C	T	10: 127,503,585	L117F	probably damaging	Het
Surf6	A	G	2: 26,892,524	W264R	probably damaging	Het
Taar7e	T	C	10: 24,037,912	V100A	probably damaging	Het
Tenm3	T	C	8: 48,342,653	H534R	probably damaging	Het
Tinagl1	C	A	4: 130,174,030	R57L	probably damaging	Het
Tnfrsf11a	G	A	1: 105,827,129	A309T	possibly damaging	Het
Traf6	A	G	2: 101,696,988	Y361C	possibly damaging	Het
Ttn	A	T	2: 76,946,990		probably benign	Het
Ufl1	A	T	4: 25,254,778	Y559*	probably null	Het
Upk1b	A	T	16: 38,787,208	N52K	probably damaging	Het
Uqcrb	A	G	13: 66,905,299	S5P	probably benign	Het
Use1	A	G	8: 71,367,044	Y3C	unknown	Het
Usp9y	T	A	Y: 1,434,993	I279L	possibly damaging	Het
Vmn1r142	A	G	7: 22,163,371	L222P	probably damaging	Het
Vmn1r184	A	C	7: 26,267,752	N308H	probably benign	Het
Vmn2r14	C	A	5: 109,220,027	M366I	probably benign	Het
Vmn2r73	G	T	7: 85,872,696	S145Y	probably damaging	Het
Wdfy1	A	T	1: 79,714,980	W207R	probably damaging	Het
Zbtb38	A	T	9: 96,687,047	N661K	probably benign	Het
Zkscan3	G	T	13: 21,388,213	H416Q	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
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
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'- CTGGAAGCCATTACCGAATCAG -3'
(R):5'- TGATGGACTCGTGCCTCTCTAG -3'

Sequencing Primer
(F):5'- GAAGGTAGCATTCACTTTGGATC -3'
(R):5'- GTGCCTCTCTAGCTGCCAG -3'

Posted On

2021-10-11