Mutagenetix > Incidental Mutation

Incidental Mutation 'R7961:Pramel34'

650106

Institutional Source

Beutler Lab

Gene Symbol

Pramel34

Ensembl Gene

ENSMUSG00000070686

Gene Name

PRAME like 34

Synonyms

C87414

MMRRC Submission

046005-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7961 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

93783041-93819368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93784543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 307 (D307G)

Ref Sequence

ENSEMBL: ENSMUSP00000124780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076321] [ENSMUST00000159578] [ENSMUST00000160382] [ENSMUST00000162964]

AlphaFold

E9PWI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076321
AA Change: D110G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686
AA Change: D110G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	67	191	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159578

Predicted Effect

probably benign
Transcript: ENSMUST00000160382

Predicted Effect

probably damaging
Transcript: ENSMUST00000162964
AA Change: D307G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: D307G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	199	388	1e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,330,903 (GRCm39)	R288W	probably damaging	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Ciart	A	G	3: 95,788,629 (GRCm39)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,069,121 (GRCm39)	A192T	probably benign	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,588,272 (GRCm39)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Engase	A	G	11: 118,377,686 (GRCm39)	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,609,883 (GRCm39)	H374Y	probably damaging	Het
Icam5	T	C	9: 20,950,051 (GRCm39)	V870A	possibly damaging	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krt71	T	C	15: 101,643,877 (GRCm39)	I454V	probably damaging	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Mia2	T	A	12: 59,206,425 (GRCm39)		probably null	Het
Neurod4	A	T	10: 130,106,356 (GRCm39)	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,510,628 (GRCm39)		probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Nubpl	T	A	12: 52,228,080 (GRCm39)	L168*	probably null	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or4c35	A	G	2: 89,808,131 (GRCm39)	Q3R	probably benign	Het
Or4k48	G	A	2: 111,476,282 (GRCm39)	S20F	probably damaging	Het
Or5d41	C	A	2: 88,055,033 (GRCm39)	M114I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Polm	T	C	11: 5,780,155 (GRCm39)	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Pspc1	G	A	14: 57,009,304 (GRCm39)	Q177*	probably null	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,430,510 (GRCm39)	T292A	probably damaging	Het
Smad3	G	A	9: 63,557,564 (GRCm39)	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Usp25	A	G	16: 76,856,150 (GRCm39)	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	probably benign	Het
Zfp60	G	A	7: 27,447,881 (GRCm39)	G183D	probably benign	Het

Other mutations in Pramel34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Pramel34	APN	5	93,784,336 (GRCm39)	missense	probably damaging	1.00
IGL01642:Pramel34	APN	5	93,784,154 (GRCm39)	missense	possibly damaging	0.84
IGL02735:Pramel34	APN	5	93,786,503 (GRCm39)	missense	possibly damaging	0.94
PIT4466001:Pramel34	UTSW	5	93,784,147 (GRCm39)	missense	probably damaging	1.00
R1830:Pramel34	UTSW	5	93,785,545 (GRCm39)	missense	probably benign	0.03
R2071:Pramel34	UTSW	5	93,784,375 (GRCm39)	missense	probably damaging	1.00
R4404:Pramel34	UTSW	5	93,785,572 (GRCm39)	missense	possibly damaging	0.81
R4606:Pramel34	UTSW	5	93,784,461 (GRCm39)	missense	probably damaging	0.96
R4672:Pramel34	UTSW	5	93,784,182 (GRCm39)	missense	probably damaging	0.99
R5056:Pramel34	UTSW	5	93,786,784 (GRCm39)	start gained	probably benign
R5118:Pramel34	UTSW	5	93,785,656 (GRCm39)	missense	probably benign	0.03
R5288:Pramel34	UTSW	5	93,785,607 (GRCm39)	missense	possibly damaging	0.86
R5441:Pramel34	UTSW	5	93,784,456 (GRCm39)	missense	possibly damaging	0.84
R6190:Pramel34	UTSW	5	93,785,937 (GRCm39)	missense	probably benign	0.14
R6513:Pramel34	UTSW	5	93,785,391 (GRCm39)	splice site	probably null
R7464:Pramel34	UTSW	5	93,784,099 (GRCm39)	missense	probably damaging	1.00
R7941:Pramel34	UTSW	5	93,785,887 (GRCm39)	missense	probably benign	0.04
R8130:Pramel34	UTSW	5	93,784,597 (GRCm39)	missense	probably damaging	1.00
R8389:Pramel34	UTSW	5	93,785,587 (GRCm39)	missense	probably benign	0.10
R8725:Pramel34	UTSW	5	93,784,316 (GRCm39)	missense	probably damaging	1.00
R8742:Pramel34	UTSW	5	93,785,935 (GRCm39)	missense	probably damaging	0.96
R8812:Pramel34	UTSW	5	93,785,660 (GRCm39)	missense	possibly damaging	0.84
R8849:Pramel34	UTSW	5	93,784,197 (GRCm39)	missense	probably benign	0.01
R8930:Pramel34	UTSW	5	93,785,944 (GRCm39)	missense	probably benign	0.39
R8932:Pramel34	UTSW	5	93,785,944 (GRCm39)	missense	probably benign	0.39
R8976:Pramel34	UTSW	5	93,785,977 (GRCm39)	missense	probably damaging	0.99
R9201:Pramel34	UTSW	5	93,785,937 (GRCm39)	missense	probably benign	0.14
R9229:Pramel34	UTSW	5	93,784,089 (GRCm39)	nonsense	probably null
R9287:Pramel34	UTSW	5	93,785,969 (GRCm39)	missense	possibly damaging	0.77
R9347:Pramel34	UTSW	5	93,786,697 (GRCm39)	missense	probably damaging	0.96
R9536:Pramel34	UTSW	5	93,784,289 (GRCm39)	missense	probably damaging	1.00
RF006:Pramel34	UTSW	5	93,784,562 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGATCTGGGAGTCCTTCATCC -3'
(R):5'- TTGGCATGAATGAGCAGATCC -3'

Sequencing Primer
(F):5'- GATCTGGGAGTCCTTCATCCTACAC -3'
(R):5'- TGAGCAGATCCAATAGTAAGCATC -3'

Posted On

2020-09-15