Mutagenetix > Incidental Mutation

Incidental Mutation 'R7451:Pdzrn4'

577755

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, SAMCAP3L, LNX4

MMRRC Submission

045525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R7451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92294762-92669700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92667948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 700 (D700V)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035399] [ENSMUST00000169942]

AlphaFold

E9PUZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000035399
AA Change: D461V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: D461V

Domain	Start	End	E-Value	Type
Blast:PDZ	1	56	4e-24	BLAST
SCOP:d1qaua_	20	61	1e-3	SMART
PDB:1UHP\|A	21	64	9e-12	PDB
PDZ	154	229	3.01e-18	SMART
low complexity region	240	259	N/A	INTRINSIC
low complexity region	267	278	N/A	INTRINSIC
coiled coil region	394	430	N/A	INTRINSIC
low complexity region	563	577	N/A	INTRINSIC
low complexity region	696	709	N/A	INTRINSIC
low complexity region	732	741	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169942
AA Change: D700V

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: D700V

Domain	Start	End	E-Value	Type
RING	22	56	1.38e-1	SMART
low complexity region	101	124	N/A	INTRINSIC
PDZ	213	295	3.82e-20	SMART
PDZ	393	468	3.01e-18	SMART
low complexity region	479	498	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
coiled coil region	633	669	N/A	INTRINSIC
low complexity region	802	816	N/A	INTRINSIC
low complexity region	935	948	N/A	INTRINSIC
low complexity region	971	980	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,148,797 (GRCm39)	I794T	probably damaging	Het
Abcc5	T	A	16: 20,193,820 (GRCm39)	H767L	probably damaging	Het
Adgrb2	A	T	4: 129,908,350 (GRCm39)	M1031L	probably damaging	Het
Akna	T	A	4: 63,296,904 (GRCm39)	M891L	probably benign	Het
Aloxe3	C	A	11: 69,033,746 (GRCm39)	T620K	possibly damaging	Het
Amph	A	G	13: 19,261,538 (GRCm39)	Y63C	probably damaging	Het
Asprv1	A	G	6: 86,605,930 (GRCm39)	I259V	probably benign	Het
Atp7b	C	T	8: 22,504,700 (GRCm39)	W652*	probably null	Het
Atp8a2	C	T	14: 60,028,630 (GRCm39)	D946N	probably null	Het
BC024063	T	A	10: 81,944,576 (GRCm39)	N65K	probably benign	Het
Bean1	A	T	8: 104,940,628 (GRCm39)	M154L	probably benign	Het
Bltp1	G	T	3: 37,076,956 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,570,981 (GRCm39)	V2181M	unknown	Het
Cacna1g	A	G	11: 94,319,901 (GRCm39)	I1425T	probably damaging	Het
Caskin2	A	G	11: 115,702,981 (GRCm39)		probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap97d1	A	T	11: 101,882,283 (GRCm39)	N147I	possibly damaging	Het
Cfd	T	A	10: 79,727,362 (GRCm39)	V43E	probably damaging	Het
Chd9	GCCCC	GCCC	8: 91,760,418 (GRCm39)		probably null	Het
Chd9	T	A	8: 91,760,446 (GRCm39)	S2064T	probably benign	Het
Cpsf2	T	G	12: 101,967,051 (GRCm39)	V646G	possibly damaging	Het
Ctif	T	C	18: 75,652,874 (GRCm39)	D461G	possibly damaging	Het
Cyp3a41a	T	A	5: 145,636,550 (GRCm39)	E414D	probably benign	Het
Dagla	A	G	19: 10,230,719 (GRCm39)	V544A	probably damaging	Het
Dhx57	A	T	17: 80,554,542 (GRCm39)	V1228E	probably damaging	Het
Eif2b3	T	A	4: 116,909,993 (GRCm39)	L176*	probably null	Het
Fbxw26	T	A	9: 109,561,691 (GRCm39)	I168L	probably benign	Het
Flt3	T	A	5: 147,286,477 (GRCm39)	Y703F	probably damaging	Het
Frmpd1	C	T	4: 45,279,558 (GRCm39)	P761L	probably benign	Het
Gabrd	A	G	4: 155,472,916 (GRCm39)	V89A	possibly damaging	Het
Galnt14	A	T	17: 73,881,804 (GRCm39)	H98Q	probably benign	Het
Gli3	T	C	13: 15,900,876 (GRCm39)	V1421A	possibly damaging	Het
Gprin2	A	G	14: 33,917,762 (GRCm39)	S3P	probably damaging	Het
Ifi211	T	G	1: 173,727,058 (GRCm39)	D362A	probably damaging	Het
Lars1	G	T	18: 42,335,615 (GRCm39)	T1167K	probably benign	Het
Lce1b	T	C	3: 92,563,207 (GRCm39)	S109G	unknown	Het
Lrp2	T	G	2: 69,343,677 (GRCm39)	E894A	probably damaging	Het
Mamdc4	A	G	2: 25,454,473 (GRCm39)	V1081A	possibly damaging	Het
Mcub	T	C	3: 129,710,752 (GRCm39)	S227G	possibly damaging	Het
Mki67	A	G	7: 135,301,080 (GRCm39)	I1318T	probably benign	Het
Mybl2	C	T	2: 162,914,626 (GRCm39)	T248I	possibly damaging	Het
Myo9b	A	T	8: 71,804,832 (GRCm39)	H1441L	probably benign	Het
Nav2	T	A	7: 49,202,577 (GRCm39)		probably null	Het
Neb	C	T	2: 52,091,466 (GRCm39)	V5339I	probably benign	Het
Nktr	T	A	9: 121,558,722 (GRCm39)	S88T	probably damaging	Het
Nup155	C	T	15: 8,175,091 (GRCm39)	Q963*	probably null	Het
Oas1c	A	C	5: 120,940,207 (GRCm39)	L320V	possibly damaging	Het
Or10ak14	C	T	4: 118,610,884 (GRCm39)	A286T	probably benign	Het
Or10d1b	G	A	9: 39,613,423 (GRCm39)	T214I	probably damaging	Het
Or1o11	C	A	17: 37,757,196 (GRCm39)	S261R	probably damaging	Het
Or2t46	A	G	11: 58,472,516 (GRCm39)	Y282C	probably damaging	Het
Or4a81	A	G	2: 89,619,453 (GRCm39)	M81T	probably benign	Het
Or52b4i	T	C	7: 102,191,461 (GRCm39)	I106T	probably benign	Het
Pcdhga7	A	G	18: 37,849,057 (GRCm39)	S355G	possibly damaging	Het
Pde11a	C	T	2: 75,853,117 (GRCm39)	V834I	possibly damaging	Het
Pif1	C	A	9: 65,495,630 (GRCm39)	P180Q	probably benign	Het
Pkig	G	T	2: 163,563,083 (GRCm39)	E5*	probably null	Het
Pla2r1	T	A	2: 60,365,346 (GRCm39)	M75L	probably damaging	Het
Pllp	T	C	8: 95,402,871 (GRCm39)	S157G	probably damaging	Het
Ppfia1	A	T	7: 144,061,947 (GRCm39)	H566Q	probably benign	Het
Ptpn13	A	G	5: 103,674,961 (GRCm39)	D646G	probably benign	Het
Rab11fip5	T	A	6: 85,318,538 (GRCm39)	T784S	probably benign	Het
Rad51ap2	T	G	12: 11,507,982 (GRCm39)	S635A	probably benign	Het
Ranbp17	A	T	11: 33,234,114 (GRCm39)		probably null	Het
Rce1	C	T	19: 4,675,081 (GRCm39)	G111D	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rimbp2	C	T	5: 128,865,435 (GRCm39)	V631I	probably benign	Het
Scai	T	C	2: 39,015,148 (GRCm39)	T94A	probably damaging	Het
Sfmbt1	G	A	14: 30,538,768 (GRCm39)	A796T	probably benign	Het
Slc6a11	C	A	6: 114,222,644 (GRCm39)	Y546*	probably null	Het
Slc7a2	T	C	8: 41,365,686 (GRCm39)	S506P	probably damaging	Het
Synj2	T	A	17: 6,080,066 (GRCm39)	N1098K	possibly damaging	Het
Tmem177	G	A	1: 119,837,971 (GRCm39)	A236V	probably damaging	Het
Togaram1	T	A	12: 65,043,749 (GRCm39)	D1249E	probably damaging	Het
Trav17	A	T	14: 54,044,096 (GRCm39)	M1L	probably damaging	Het
Trim25	C	A	11: 88,906,563 (GRCm39)	A433D	possibly damaging	Het
Trim69	T	C	2: 121,998,508 (GRCm39)	F160S	probably benign	Het
Trio	A	T	15: 27,747,999 (GRCm39)	V1407E	probably benign	Het
Trpm7	A	T	2: 126,668,657 (GRCm39)	M753K	probably damaging	Het
Ttc12	G	T	9: 49,383,179 (GRCm39)	A75E	probably benign	Het
Uchl4	A	T	9: 64,143,013 (GRCm39)	I165L	probably benign	Het
Uvrag	A	T	7: 98,790,120 (GRCm39)	L13Q	unknown	Het
Wwc2	G	A	8: 48,317,610 (GRCm39)	R656W	not run	Het

Other mutations in Pdzrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Pdzrn4	APN	15	92,644,159 (GRCm39)	missense	probably damaging	1.00
IGL01991:Pdzrn4	APN	15	92,299,807 (GRCm39)	splice site	probably null
IGL02103:Pdzrn4	APN	15	92,667,768 (GRCm39)	missense	probably damaging	1.00
IGL02243:Pdzrn4	APN	15	92,668,577 (GRCm39)	missense	probably benign	0.30
IGL02269:Pdzrn4	APN	15	92,667,731 (GRCm39)	missense	probably damaging	1.00
IGL03005:Pdzrn4	APN	15	92,668,272 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Pdzrn4	UTSW	15	92,667,762 (GRCm39)	missense	possibly damaging	0.46
R0243:Pdzrn4	UTSW	15	92,668,200 (GRCm39)	missense	possibly damaging	0.46
R0367:Pdzrn4	UTSW	15	92,655,538 (GRCm39)	missense	possibly damaging	0.53
R0972:Pdzrn4	UTSW	15	92,655,592 (GRCm39)	missense	probably benign	0.00
R1168:Pdzrn4	UTSW	15	92,668,152 (GRCm39)	missense	probably benign	0.16
R1411:Pdzrn4	UTSW	15	92,668,894 (GRCm39)	makesense	probably null
R1466:Pdzrn4	UTSW	15	92,668,418 (GRCm39)	missense	probably benign	0.00
R1466:Pdzrn4	UTSW	15	92,668,418 (GRCm39)	missense	probably benign	0.00
R1489:Pdzrn4	UTSW	15	92,575,593 (GRCm39)	missense	probably benign
R1503:Pdzrn4	UTSW	15	92,297,685 (GRCm39)	missense	probably damaging	0.99
R1561:Pdzrn4	UTSW	15	92,575,518 (GRCm39)	missense	possibly damaging	0.84
R1584:Pdzrn4	UTSW	15	92,668,418 (GRCm39)	missense	probably benign	0.00
R1733:Pdzrn4	UTSW	15	92,299,855 (GRCm39)	missense	probably benign	0.06
R1965:Pdzrn4	UTSW	15	92,644,190 (GRCm39)	splice site	probably null
R2061:Pdzrn4	UTSW	15	92,668,041 (GRCm39)	missense	probably damaging	0.99
R3010:Pdzrn4	UTSW	15	92,667,692 (GRCm39)	missense	probably benign	0.32
R4016:Pdzrn4	UTSW	15	92,297,630 (GRCm39)	missense	probably benign
R4032:Pdzrn4	UTSW	15	92,667,414 (GRCm39)	missense	probably damaging	1.00
R4110:Pdzrn4	UTSW	15	92,668,745 (GRCm39)	missense	probably benign	0.26
R4180:Pdzrn4	UTSW	15	92,299,898 (GRCm39)	missense	possibly damaging	0.93
R4539:Pdzrn4	UTSW	15	92,668,470 (GRCm39)	missense	probably damaging	1.00
R4617:Pdzrn4	UTSW	15	92,667,723 (GRCm39)	missense	probably damaging	1.00
R4734:Pdzrn4	UTSW	15	92,668,133 (GRCm39)	nonsense	probably null
R4900:Pdzrn4	UTSW	15	92,668,638 (GRCm39)	missense	probably damaging	1.00
R5422:Pdzrn4	UTSW	15	92,575,502 (GRCm39)	missense	probably benign	0.01
R5444:Pdzrn4	UTSW	15	92,668,806 (GRCm39)	missense	probably damaging	1.00
R5772:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R5775:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R5935:Pdzrn4	UTSW	15	92,295,255 (GRCm39)	missense	probably benign	0.01
R6192:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6210:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6258:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6259:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6391:Pdzrn4	UTSW	15	92,578,418 (GRCm39)	missense	probably damaging	0.99
R6613:Pdzrn4	UTSW	15	92,575,455 (GRCm39)	missense	probably damaging	0.99
R7046:Pdzrn4	UTSW	15	92,668,303 (GRCm39)	nonsense	probably null
R7096:Pdzrn4	UTSW	15	92,295,384 (GRCm39)	missense	probably benign	0.00
R8075:Pdzrn4	UTSW	15	92,575,605 (GRCm39)	missense	probably damaging	0.99
R8125:Pdzrn4	UTSW	15	92,641,476 (GRCm39)	missense	probably damaging	1.00
R8324:Pdzrn4	UTSW	15	92,668,818 (GRCm39)	missense	probably damaging	1.00
R9332:Pdzrn4	UTSW	15	92,295,216 (GRCm39)	missense	probably benign
R9555:Pdzrn4	UTSW	15	92,297,703 (GRCm39)	missense	probably damaging	1.00
R9558:Pdzrn4	UTSW	15	92,299,877 (GRCm39)	missense	possibly damaging	0.46
R9622:Pdzrn4	UTSW	15	92,294,949 (GRCm39)	missense	probably benign
R9763:Pdzrn4	UTSW	15	92,668,376 (GRCm39)	missense	probably damaging	1.00
R9796:Pdzrn4	UTSW	15	92,578,353 (GRCm39)	missense	possibly damaging	0.93
X0018:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0020:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0021:Pdzrn4	UTSW	15	92,575,590 (GRCm39)	missense	probably damaging	1.00
X0026:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0027:Pdzrn4	UTSW	15	92,578,393 (GRCm39)	missense	possibly damaging	0.92
X0027:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0065:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
Z1176:Pdzrn4	UTSW	15	92,294,838 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TACTCAAGCAGTACCATCGAGTG -3'
(R):5'- GATGGGCTGTCATCATGCTTC -3'

Sequencing Primer
(F):5'- GCAGTACCATCGAGTGCAATCG -3'
(R):5'- CATGCTTCTCAGATTTTTCTTATTGG -3'

Posted On

2019-10-07