Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:Pcdhb4'

216629

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

039963-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37440508-37444225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37441921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 410 (R410S)

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: R410S

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

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: R410S

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

noncoding transcript
Transcript: ENSMUST00000193025

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: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,653,549 (GRCm39)	I33V	unknown	Het
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509 (GRCm39)		probably null	Het
Amotl2	T	C	9: 102,597,753 (GRCm39)	S171P	probably benign	Het
Armh4	T	A	14: 50,005,940 (GRCm39)	E585V	probably damaging	Het
Atf6	A	T	1: 170,682,710 (GRCm39)	V34E	probably benign	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bglap	A	G	3: 88,290,971 (GRCm39)	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,184,094 (GRCm39)	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Cdc14b	T	C	13: 64,367,704 (GRCm39)	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,265,567 (GRCm39)	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,621,100 (GRCm39)	G26*	probably null	Het
Cfap46	A	G	7: 139,259,819 (GRCm39)	F217S	probably damaging	Het
Col11a2	A	T	17: 34,278,142 (GRCm39)	D691V	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 26,933,405 (GRCm39)		probably benign	Het
Coq8b	GCA	GCAACA	7: 26,933,406 (GRCm39)		probably benign	Het
Dcaf5	T	C	12: 80,385,468 (GRCm39)	D886G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
Etaa1	A	G	11: 17,897,233 (GRCm39)	C295R	probably damaging	Het
Ghdc	C	T	11: 100,660,031 (GRCm39)	A239T	probably benign	Het
Grik4	T	C	9: 42,432,300 (GRCm39)	D899G	possibly damaging	Het
Hacd2	C	A	16: 34,922,354 (GRCm39)	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,345,877 (GRCm39)	L17P	unknown	Het
Herc3	T	C	6: 58,864,424 (GRCm39)	V686A	probably damaging	Het
Hyal3	T	C	9: 107,462,671 (GRCm39)	L235P	probably damaging	Het
Itgb4	C	T	11: 115,884,279 (GRCm39)	Q988*	probably null	Het
Itprid2	T	C	2: 79,492,996 (GRCm39)	V1181A	probably benign	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Lama1	T	A	17: 68,052,848 (GRCm39)	S394T	probably benign	Het
Lamp1	T	C	8: 13,222,545 (GRCm39)	V243A	probably benign	Het
Loxhd1	A	G	18: 77,492,504 (GRCm39)	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,384,453 (GRCm39)	L1148*	probably null	Het
Mill2	A	G	7: 18,575,419 (GRCm39)	H42R	probably benign	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,769,224 (GRCm39)	I1472F	probably damaging	Het
Nasp	T	C	4: 116,479,965 (GRCm39)	S36G	possibly damaging	Het
Nav2	A	G	7: 49,114,620 (GRCm39)	Y868C	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,175,199 (GRCm39)	W592*	probably null	Het
Nsg2	T	C	11: 32,005,068 (GRCm39)	V90A	probably damaging	Het
Odf4	T	C	11: 68,812,983 (GRCm39)	N225S	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or1j12	T	C	2: 36,343,043 (GRCm39)	W149R	probably damaging	Het
Or4c123	T	C	2: 89,127,128 (GRCm39)	Y162C	probably damaging	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pik3ap1	A	T	19: 41,262,776 (GRCm39)	S799T	probably benign	Het
Pitx2	A	G	3: 129,012,185 (GRCm39)	N198S	probably damaging	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Recql5	G	A	11: 115,819,123 (GRCm39)	R148*	probably null	Het
Reep3	A	G	10: 66,871,678 (GRCm39)	S97P	probably damaging	Het
Rnase12	T	A	14: 51,294,463 (GRCm39)	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Scn10a	A	T	9: 119,520,520 (GRCm39)	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,506,324 (GRCm39)	W1522R	probably damaging	Het
Senp7	A	G	16: 55,944,309 (GRCm39)	H211R	probably damaging	Het
Septin10	C	T	10: 59,016,841 (GRCm39)		probably null	Het
Serpinb6d	T	C	13: 33,851,663 (GRCm39)	V140A	possibly damaging	Het
Sned1	A	G	1: 93,198,960 (GRCm39)	E457G	probably benign	Het
Spag17	A	C	3: 99,847,298 (GRCm39)	M76L	probably benign	Het
Spata31e2	C	A	1: 26,721,395 (GRCm39)	V1262F	probably benign	Het
Spata31e3	C	T	13: 50,399,527 (GRCm39)	G933E	probably damaging	Het
Sspo	A	T	6: 48,466,707 (GRCm39)	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,412,866 (GRCm39)	D173E	possibly damaging	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Svil	T	C	18: 5,117,059 (GRCm39)	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,186,454 (GRCm39)	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474 (GRCm39)	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960 (GRCm39)	N139S	possibly damaging	Het
Trip13	T	C	13: 74,076,043 (GRCm39)	R199G	probably damaging	Het
Tshb	G	T	3: 102,684,831 (GRCm39)	Y124*	probably null	Het
Ttn	T	C	2: 76,560,366 (GRCm39)	E29345G	probably damaging	Het
Usp33	T	A	3: 152,085,223 (GRCm39)	S620T	probably benign	Het
Vipr1	G	A	9: 121,497,540 (GRCm39)	G353R	probably damaging	Het
Vipr1	G	T	9: 121,497,541 (GRCm39)	G353V	probably damaging	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,062,192 (GRCm39)	S240T	probably damaging	Het
Zfp772	A	G	7: 7,206,629 (GRCm39)	I354T	probably benign	Het
Zfp959	T	A	17: 56,204,231 (GRCm39)	Y86*	probably null	Het

Other mutations in Pcdhb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Pcdhb4	APN	18	37,442,969 (GRCm39)	missense	possibly damaging	0.68
IGL01319:Pcdhb4	APN	18	37,441,566 (GRCm39)	missense	probably benign
IGL01325:Pcdhb4	APN	18	37,442,676 (GRCm39)	missense	probably damaging	1.00
IGL01608:Pcdhb4	APN	18	37,441,803 (GRCm39)	missense	probably damaging	1.00
IGL01808:Pcdhb4	APN	18	37,442,067 (GRCm39)	missense	probably damaging	1.00
IGL01962:Pcdhb4	APN	18	37,442,057 (GRCm39)	missense	possibly damaging	0.90
IGL02280:Pcdhb4	APN	18	37,440,735 (GRCm39)	missense	probably benign	0.00
IGL02622:Pcdhb4	APN	18	37,442,721 (GRCm39)	missense	probably benign	0.00
IGL03025:Pcdhb4	APN	18	37,443,030 (GRCm39)	missense	possibly damaging	0.62
IGL03137:Pcdhb4	APN	18	37,441,569 (GRCm39)	missense	probably damaging	0.98
P0031:Pcdhb4	UTSW	18	37,441,938 (GRCm39)	missense	probably damaging	1.00
R0385:Pcdhb4	UTSW	18	37,442,268 (GRCm39)	missense	probably damaging	1.00
R0611:Pcdhb4	UTSW	18	37,441,263 (GRCm39)	missense	probably damaging	1.00
R0671:Pcdhb4	UTSW	18	37,440,795 (GRCm39)	missense	probably benign	0.01
R0738:Pcdhb4	UTSW	18	37,441,764 (GRCm39)	missense	probably damaging	1.00
R0853:Pcdhb4	UTSW	18	37,442,938 (GRCm39)	nonsense	probably null
R0893:Pcdhb4	UTSW	18	37,442,423 (GRCm39)	splice site	probably null
R1932:Pcdhb4	UTSW	18	37,442,594 (GRCm39)	missense	probably benign	0.33
R2194:Pcdhb4	UTSW	18	37,441,788 (GRCm39)	missense	probably damaging	1.00
R2273:Pcdhb4	UTSW	18	37,441,979 (GRCm39)	missense	probably damaging	1.00
R3807:Pcdhb4	UTSW	18	37,442,367 (GRCm39)	missense	probably damaging	0.98
R3815:Pcdhb4	UTSW	18	37,441,065 (GRCm39)	missense	probably damaging	1.00
R3816:Pcdhb4	UTSW	18	37,441,065 (GRCm39)	missense	probably damaging	1.00
R3974:Pcdhb4	UTSW	18	37,441,901 (GRCm39)	missense	possibly damaging	0.55
R4558:Pcdhb4	UTSW	18	37,443,017 (GRCm39)	missense	probably benign
R4606:Pcdhb4	UTSW	18	37,441,705 (GRCm39)	missense	probably damaging	1.00
R4615:Pcdhb4	UTSW	18	37,441,553 (GRCm39)	missense	probably benign	0.02
R4840:Pcdhb4	UTSW	18	37,441,452 (GRCm39)	missense	possibly damaging	0.60
R5240:Pcdhb4	UTSW	18	37,442,979 (GRCm39)	missense	possibly damaging	0.78
R5272:Pcdhb4	UTSW	18	37,440,819 (GRCm39)	missense	probably benign	0.04
R5586:Pcdhb4	UTSW	18	37,442,034 (GRCm39)	missense	probably damaging	1.00
R5683:Pcdhb4	UTSW	18	37,442,042 (GRCm39)	missense	probably benign	0.45
R5917:Pcdhb4	UTSW	18	37,442,619 (GRCm39)	missense	probably damaging	1.00
R6110:Pcdhb4	UTSW	18	37,441,482 (GRCm39)	missense	possibly damaging	0.80
R6383:Pcdhb4	UTSW	18	37,441,074 (GRCm39)	missense	probably damaging	1.00
R6877:Pcdhb4	UTSW	18	37,442,625 (GRCm39)	missense	probably damaging	1.00
R7036:Pcdhb4	UTSW	18	37,441,835 (GRCm39)	missense	possibly damaging	0.95
R7204:Pcdhb4	UTSW	18	37,442,292 (GRCm39)	missense	probably damaging	1.00
R7271:Pcdhb4	UTSW	18	37,441,222 (GRCm39)	missense	possibly damaging	0.89
R7436:Pcdhb4	UTSW	18	37,442,328 (GRCm39)	missense	probably damaging	1.00
R7444:Pcdhb4	UTSW	18	37,442,505 (GRCm39)	missense	probably damaging	1.00
R7614:Pcdhb4	UTSW	18	37,442,602 (GRCm39)	missense	probably benign	0.40
R7650:Pcdhb4	UTSW	18	37,442,667 (GRCm39)	missense	probably damaging	1.00
R7664:Pcdhb4	UTSW	18	37,442,293 (GRCm39)	missense	probably damaging	1.00
R8080:Pcdhb4	UTSW	18	37,442,349 (GRCm39)	missense	probably benign	0.42
R8087:Pcdhb4	UTSW	18	37,441,717 (GRCm39)	missense	probably damaging	1.00
R8115:Pcdhb4	UTSW	18	37,442,453 (GRCm39)	missense	probably damaging	0.99
R8697:Pcdhb4	UTSW	18	37,441,832 (GRCm39)	missense	probably benign	0.15
R8815:Pcdhb4	UTSW	18	37,442,055 (GRCm39)	missense	probably damaging	1.00
R9008:Pcdhb4	UTSW	18	37,440,714 (GRCm39)	missense	probably benign
R9225:Pcdhb4	UTSW	18	37,441,695 (GRCm39)	missense	possibly damaging	0.68
R9278:Pcdhb4	UTSW	18	37,441,925 (GRCm39)	missense	possibly damaging	0.61
R9299:Pcdhb4	UTSW	18	37,442,264 (GRCm39)	missense	probably benign	0.02
R9390:Pcdhb4	UTSW	18	37,442,781 (GRCm39)	missense	possibly damaging	0.80
R9582:Pcdhb4	UTSW	18	37,441,417 (GRCm39)	missense	probably damaging	1.00
R9686:Pcdhb4	UTSW	18	37,442,943 (GRCm39)	missense	probably damaging	0.98
R9721:Pcdhb4	UTSW	18	37,442,905 (GRCm39)	missense	possibly damaging	0.70
Z1177:Pcdhb4	UTSW	18	37,442,966 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GATAACGCCCCAGAGTTGAC -3'
(R):5'- CACTGATGGTGCCTATGTGC -3'

Sequencing Primer
(F):5'- AGAGTTGACGGTCTCTACGCTC -3'
(R):5'- TGCCTATGTGCAGGGCG -3'

Posted On

2014-08-01