Mutagenetix > Incidental Mutation

Incidental Mutation 'R9411:Pramel31'

711796

Institutional Source

Beutler Lab

Gene Symbol

Pramel31

Ensembl Gene

ENSMUSG00000070619

Gene Name

PRAME like 31

Synonyms

Gm13119

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144084534-144090989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144089997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 346 (I346V)

Ref Sequence

ENSEMBL: ENSMUSP00000092103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094526]

AlphaFold

B1ARV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094526
AA Change: I346V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: I346V

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	3e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,919,919 (GRCm39)	A285T	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg7	T	A	6: 114,690,289 (GRCm39)	M650K	probably benign	Het
B020011L13Rik	G	A	1: 117,729,246 (GRCm39)	G251E	probably benign	Het
Bhlha9	T	C	11: 76,564,018 (GRCm39)	V215A	probably benign	Het
Bmal1	C	A	7: 112,907,837 (GRCm39)	S513*	probably null	Het
C2cd3	T	C	7: 100,065,704 (GRCm39)	V452A		Het
Cd55	G	A	1: 130,368,114 (GRCm39)	H370Y	probably benign	Het
Col6a1	A	G	10: 76,547,487 (GRCm39)	V662A	unknown	Het
Crocc	A	G	4: 140,749,577 (GRCm39)		probably null	Het
Cspg4b	T	A	13: 113,504,767 (GRCm39)	N1965K		Het
Dnah1	C	T	14: 31,018,256 (GRCm39)	V1421M	probably damaging	Het
Eid3	T	G	10: 82,703,652 (GRCm39)	I371S	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Garem1	C	T	18: 21,369,057 (GRCm39)		probably null	Het
Gcn1	C	T	5: 115,733,098 (GRCm39)	T1045M	possibly damaging	Het
Ggt6	T	A	11: 72,326,560 (GRCm39)	L39H	probably damaging	Het
Glrb	T	C	3: 80,767,610 (GRCm39)		probably null	Het
Gpr171	T	A	3: 59,005,311 (GRCm39)	K155*	probably null	Het
Has2	T	A	15: 56,531,306 (GRCm39)	T470S	possibly damaging	Het
Ighv1-34	C	T	12: 114,815,070 (GRCm39)	V31M	probably damaging	Het
Kdm2a	A	T	19: 4,412,835 (GRCm39)	N50K	probably damaging	Het
Mfsd9	C	T	1: 40,829,692 (GRCm39)	V30M	probably damaging	Het
Msra	A	G	14: 64,471,331 (GRCm39)	I126T	probably benign	Het
Nkd2	G	A	13: 73,969,330 (GRCm39)	L379F	probably benign	Het
Nr2f2	A	C	7: 70,007,525 (GRCm39)	V319G		Het
Ntng2	A	T	2: 29,138,048 (GRCm39)	L2Q	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcnt	T	C	10: 76,258,896 (GRCm39)	E523G	probably damaging	Het
Pllp	C	T	8: 95,402,868 (GRCm39)	A158T	probably benign	Het
Plxna4	A	G	6: 32,159,682 (GRCm39)	S1431P	probably damaging	Het
Pramel16	A	T	4: 143,676,215 (GRCm39)	F296L	probably damaging	Het
Prpf40a	T	C	2: 53,029,200 (GRCm39)	D951G	unknown	Het
Retn	G	A	8: 3,707,378 (GRCm39)	A113T	probably benign	Het
Rexo1	G	T	10: 80,397,248 (GRCm39)	R3S		Het
Rras	T	A	7: 44,669,979 (GRCm39)	I137N	possibly damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Sntb2	A	G	8: 107,737,931 (GRCm39)	D493G	probably damaging	Het
Socs5	T	C	17: 87,442,521 (GRCm39)	I487T	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Suco	T	A	1: 161,666,356 (GRCm39)	I515F	probably damaging	Het
Syn2	T	C	6: 115,231,152 (GRCm39)	V269A	possibly damaging	Het
Tmbim6	T	C	15: 99,304,501 (GRCm39)	L186P	probably damaging	Het
Tmem234	T	C	4: 129,495,988 (GRCm39)	Y57H	probably damaging	Het
Tnik	C	A	3: 28,684,754 (GRCm39)	P861T	probably damaging	Het
Tns1	A	G	1: 73,992,662 (GRCm39)	L45P	probably damaging	Het
Veph1	T	A	3: 65,995,238 (GRCm39)	D671V	possibly damaging	Het
Vwc2l	A	T	1: 70,767,980 (GRCm39)	I15F	probably benign	Het
Zdbf2	A	T	1: 63,343,288 (GRCm39)	N556Y	probably damaging	Het
Zfp202	T	A	9: 40,118,878 (GRCm39)	V97D	probably damaging	Het
Zfp800	T	C	6: 28,243,430 (GRCm39)	I512V	possibly damaging	Het
Zkscan2	T	C	7: 123,084,405 (GRCm39)	D573G	probably damaging	Het

Other mutations in Pramel31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Pramel31	APN	4	144,089,100 (GRCm39)	missense	possibly damaging	0.91
IGL00485:Pramel31	APN	4	144,090,012 (GRCm39)	missense	probably damaging	0.99
IGL01025:Pramel31	APN	4	144,089,947 (GRCm39)	missense	probably damaging	1.00
IGL01102:Pramel31	APN	4	144,090,195 (GRCm39)	missense	probably benign	0.08
IGL01631:Pramel31	APN	4	144,089,015 (GRCm39)	missense	probably benign	0.12
IGL02228:Pramel31	APN	4	144,089,231 (GRCm39)	missense	probably damaging	1.00
IGL02708:Pramel31	APN	4	144,089,983 (GRCm39)	missense	probably damaging	1.00
IGL02827:Pramel31	APN	4	144,090,331 (GRCm39)	missense	probably damaging	1.00
IGL03398:Pramel31	APN	4	144,090,061 (GRCm39)	missense	probably damaging	1.00
R0403:Pramel31	UTSW	4	144,089,216 (GRCm39)	missense	probably benign	0.00
R0627:Pramel31	UTSW	4	144,089,416 (GRCm39)	missense	probably benign	0.03
R0632:Pramel31	UTSW	4	144,090,352 (GRCm39)	missense	probably damaging	1.00
R1783:Pramel31	UTSW	4	144,088,295 (GRCm39)	missense	probably benign	0.01
R1895:Pramel31	UTSW	4	144,088,435 (GRCm39)	missense	probably benign	0.11
R1946:Pramel31	UTSW	4	144,088,435 (GRCm39)	missense	probably benign	0.11
R2263:Pramel31	UTSW	4	144,090,111 (GRCm39)	missense	probably benign	0.00
R2389:Pramel31	UTSW	4	144,089,983 (GRCm39)	missense	probably damaging	1.00
R2435:Pramel31	UTSW	4	144,089,473 (GRCm39)	missense	possibly damaging	0.75
R3013:Pramel31	UTSW	4	144,089,025 (GRCm39)	missense	probably damaging	0.98
R3021:Pramel31	UTSW	4	144,088,369 (GRCm39)	missense	probably damaging	0.99
R3106:Pramel31	UTSW	4	144,088,246 (GRCm39)	missense	probably benign	0.04
R5237:Pramel31	UTSW	4	144,089,041 (GRCm39)	nonsense	probably null
R5411:Pramel31	UTSW	4	144,088,207 (GRCm39)	start codon destroyed	probably null	1.00
R5532:Pramel31	UTSW	4	144,090,061 (GRCm39)	missense	probably damaging	1.00
R6229:Pramel31	UTSW	4	144,090,199 (GRCm39)	missense	probably benign	0.03
R6277:Pramel31	UTSW	4	144,090,223 (GRCm39)	missense	probably damaging	1.00
R6625:Pramel31	UTSW	4	144,090,369 (GRCm39)	missense	probably damaging	1.00
R6717:Pramel31	UTSW	4	144,089,227 (GRCm39)	missense	probably benign	0.00
R7103:Pramel31	UTSW	4	144,090,297 (GRCm39)	missense	probably benign	0.00
R7207:Pramel31	UTSW	4	144,088,473 (GRCm39)	missense	probably benign	0.08
R8934:Pramel31	UTSW	4	144,090,345 (GRCm39)	missense	possibly damaging	0.54
R9325:Pramel31	UTSW	4	144,089,093 (GRCm39)	missense	probably benign
Z1177:Pramel31	UTSW	4	144,089,543 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGTGGTGACAGTGACTCACG -3'
(R):5'- GTGATGCAGAAGGTTCATTAGG -3'

Sequencing Primer
(F):5'- TGACAGTGACTCACGACATG -3'
(R):5'- TTCATTAGGACAGACGTGGAGATGTC -3'

Posted On

2022-05-16